March 16th, 2021
March 16th, 2021
In the midst of World War II, a young sailor returned to the United States for temporary leave. The sailor met an intriguing young woman aboard an evening train ride. The two strangers conversed, recited some poetry, and booked a hotel room on W57th NYC. The WWII sailor was gone before dawn, only to be rediscovered years later through a DNA test. After WWII, around 800,000 Americans were left to question their biological origin. John (name changed for anonymity) discovered his father’s story through Ancestry.com. John concludes that “The need to know one’s birth parent is a natural force.” In a quest to learn from about his father, John started a serious study of WWII and even went on to write several books on U.S. WWII history. The above story illustrates our subconscious desire to know where we belong within the human family. This curiosity causes many adoptees to seek contact with their biological family. However, fears and expectations associated with contacting a biological family member may impede your efforts to continue the search. With the proper information and correct mindset, you can determine how you want to approach the new information and connections from a DNA test. This guide outlines a step-by-step approach to navigating the process of purchasing a DNA test to contacting your DNA matches. We’ve compiled information from some of the top experts in DNA testing, genealogy and psychology to help you find the best practices. Check out our mindfulness workbook download for additional resources in making smooth contact with your biological relative. Topics Choose the right DNA test Review your matches Prepare mentally before reaching out Consider best practices for contact Set boundaries and build relationships Step 1: Choose the right DNA test Popular DNA testing companies such as 23andMe, AncestryDNA, and FamilyTreeDNA offer a relative finder feature that allows you to connect with DNA matches. This feature is always optional and requires users to opt-in for their own safety. Choosing a DNA testing company with a large database will improve your chances of finding close family connections. Below you will find three of the top DNA testing companies that offer a relative finder feature. If you have already taken a DNA test, you can improve your chances of finding relatives by signing up for GEDmatch. AncestryDNA AncestryDNA has the largest DNA database and currently ranks #1 for DNA testing companies on BestCompany.com. As a popular genealogy research site, Ancestry.com also has the advantage in the number of family tree networks. Users can connect and message other family members through the Ancestry platform. The site will also tell you how close you are related to your DNA matches. Matches can be viewed through the desktop or mobile app version. Learn more about AncestryDNA’s testing options with our expert review. 23andMe 23andMe offers a competitive DNA relative tool. Customers can directly message family members through the 23andMe app or online portal. The app also shows a map of your family tree of family members who are your third cousins or closer. You can compare your DNA results to family members to find similarities and differences in your DNA makeup. 23andMe allows you to set your own privacy options. A 23andMe spokesperson says, “23andMe's DNA Relatives tool helps people find and connect with participating genetic relatives. This feature is completely optional, meaning customers must actively choose to participate. We are increasingly hearing stories of families discovering and reuniting with newfound relatives through the tool.” Learn more about 23andMe’s testing options with our expert review. FamilyTreeDNA FamilyTreeDNA (ftDNA) provides a database of over two million users. The database is significantly smaller than AncestryDNA and 23andMe; however, the family finder test is less expensive than other DNA companies. ftDNA provides users with DNA matching services that outline matches through the maternal and paternal sides. FamilyTreeDNA also provides a chromosome browser tool that allows users to pinpoint which DNA segments they have in common with their matches. Users can contact relatives through the online platform. Learn more about FamilyTreeDNA’s testing options with our expert review. GEDmatch Gedmatch is a free DNA upload site that allows you to connect with DNA matches who have used different DNA testing services. The interface is not as user friendly as other DNA testing sites. However, the free service makes it possible to expand your family tree and potentially find other living relatives. Learn more about Gedmatch’s DNA matching service with our expert review. Step 2: Review your matches Once you have received your DNA test results, you can start looking through your relative matches. The results will specify your percentage of DNA match with a given user. You may see this metric expressed as a Centimorgan. A centimorgan is a unit measurement of genetic linkage that indicates how closely related you are to any given individual. These metrics will help determine if you have found immediate or distant relatives. A result of 30–65 cMs suggests a high likelihood of sharing a common ancestor. After you have reviewed your matches, make a list of individuals who seem close enough to contact. You don’t have to decide yet which ones you will eventually contact. Just make a list so you can keep track of your new connections. Take some time to think about who you are most interested in connecting with. You can circle these names as "high priority" connections. Step 3: Prepare mentally before reaching out Reaching out to a biological family member can be anxiety-inducing for you and the person you are reaching out to. If you were placed for adoption at a young age, your biological parents may have a completely different life now. Contacting them could bring up an array of new emotions. That doesn’t mean you shouldn’t reach out. You just need to be mentally prepared for the possible outcomes. Conduct preliminary research on the new connection Social media and search engines have made it a lot easier to uncover information about a relative. You may consider conducting preliminary research to better understand the situation. Looking an individual up on social media may tell you if they are married, divorced, have more children, etc. You may not be able to find as much information on a member of the older generation if they are not involved in social media. You can also look to see who else is related to this common relative. For example, you might find that you have a half-sibling of your biological father. They might have pictures posted with him or give you more information before directly contacting him. Reflect on your thoughts and feelings Preparing mentally includes facing your fears and worries. You can recognize your thoughts and feelings by using mindfulness. Mindfulness is the practice of acknowledging your thoughts and feelings without passing judgment on them. Mindfulness can be effective in helping your pinpoint your feelings and reframe your thought patterns. Creating a list of your values may also help you determine why you are holding in stress. Heather Monroe, integrative psychotherapist, LCSW, and founder of Monroe Wellness, offers advice on how to calm our minds and bodies. Heather Monore Psychology Expert Expert Tip "When reaching out to a newly discovered family member, it’s easy to let our fears and worries take control of the narrative. First, we need to be mindful of our experience. How is it making us feel in our body, and what types of thoughts are passing through our mind? As we practice mindfulness, we begin to calm our mind and body, and we start to have a clearer picture of the situation.” Check out our mini mindfulness exercise workbook that can help you work through your thoughts and feelings. The guide includes some thought-provoking questions and breathing exercises to lower stress. Download the guide here. Seek moral support from a professional, family member, or friend Consider seeking outside moral support before reaching out. Find someone you trust who can offer moral support as you build new connections. This could be a therapist, friend, sibling, etc. Depending on how close the relationship is, you may encounter a lot of unexpected emotions. A friend, family member, or professional can become a great sounding board as your work through some of the unknowns. They can also help you make decisions on appropriate responses and relationship boundaries. Step 4: Consider best practices for contact The digital age has made it much easier to contact people through quick forms of communication. Many DNA testing sites allow you to message through the platform. Depending on the person, you may have access to other personal contact info such as telephone number, email, or mailing address. Narrowing down the best communication method takes some thought. Here are some questions to consider before deciding the contact method: What is the age of the person you are reaching out to? What kind of contact information is listed on the DNA testing site? Which contact method provides sufficient time for the person to respond? Evaluate your options such as email, online platform messaging, phone, or text An email or hand-written letter is one of the best ways to initially contact a close relative. A written message gives your biological family member time to process the situation and think through an appropriate response. Brianne at Watershed DNA recommends sending a certified letter to ensure the message is received. She includes some helpful tips for choosing the best contact medium. "Plan on giving this individual an appropriate timeline to craft his or her response too. They may need some extra time to process and evaluate how they want to move forward. Calling or showing up on a doorstep is highly discouraged because it puts both individuals in an uncomfortable position. Set yourself up for success by starting small and lowering your expectations." Once you initially reach out and receive a response, you will have more information on his or her level of interest to guide your future decisions. You can then arrange a future in-person meeting as the relationship naturally progresses. If the DNA match is distant, you could send a quick message over the DNA platform depending on which test you choose. Craft your message The next step is to decide what exactly you are going to say. Your initial message should be warm and inviting. Including too much emotion or unrealistic requests could create a poor first impression. You likely have a lot of questions for this person, but relationships need time to progress naturally. Avoid divulging too much personal information before you verify the person's identity. Once you have a drafted a message, let a family member or friend read it over. This may help you feel more confident in your message and desired action. Brianne from DNA Watershed offers some additional advice on crafting the ideal message. Brianne Kirkpatrick DNA Testing Expert Expert Tip "Provide in the letter multiple ways for the recipient to respond because one person might feel more comfortable with texting while another one would prefer the phone. As you progress in communicating, things will naturally change. You can be clear about what you are hoping for and what you are not trying to get from them, but don’t feel the need to tell your whole life story in the initial letter, by the way. Keep it two pages or shorter." Step 5: Set boundaries and build relationships The overall goal of contacting a DNA match is to learn more about yourself and build a productive relationship. However, not all relationships will progress in the same way. You may click with a half-sibling but wait months to hear back from a biological parent. Don’t get discouraged. You can build appropriate expectations to safeguard your emotional wellbeing. Build realistic expectations while awaiting a response The truth is not everyone receives a quick response back. Some never hear back from their DNA match. This can cause a lot of hurt and unexpected emotions. You need to be prepared for all possible outcomes. Try to focus your time on other healthy relationships and connections. Find gratitude for the people placed in your life and how they have supported you. Avoid becoming emotionally dependent on the expectation that your connection will fill a gap in your family structure. Letting the relationship progress naturally will help you identify realistic expectations for your new relationship. Kirkpatrick's work with DNA matches has led to some other helpful mindsets. She has seen how new connections can bring up feelings of grief for both individuals. She warns against giving up too early. “Don’t confuse 'no response' in the short term as no response forever. I have worked with many of the 'discovered' biological fathers and family members, and it is accurate to say that what they are going through upon discovering a DNA relative they never knew about is a shock and for some, it triggers the start of a grief or trauma process. Do not think of hearing back in terms of hours or days. Think of it in terms of months or years. There is a lot going on behind the scenes inside families that you do not see as an outsider.” Think about who else may be impacted by your new connection Every family situation is different. If you have other siblings or children, you need to think about how this new connection could affect their lives. This new connection may bring up a new social matrix that could cause conflicts in your current relationships. For example, if you are an adoptee with a family and kids, a biological parent may be interested in meeting their grandchildren. You need to be aware of their life choices and how they could influence your family. Here are some questions to consider: Is this new connection a good influence on my other family members? Do they have my best interests in mind? Will I be able to create healthy boundaries with my new connection? Do they respect the new life I have built? Slowly build your relationship with safe boundaries As you start building a relationship, be cautious as you open up and rely on this individual. This person may be a biological father, mother, sibling, etc., but the title does not earn them automatic family privileges. Openly communicate about your boundaries and expectations. Create a safe environment for discussing difficult topics such as why they decided to place you for adoption or other big life decisions. Because these conversations can spark deep emotion, Kirkpatrick advises individuals to use caution when assigning labels. You don't want to rush into any relationship without fully understanding who a person is and what his or her intentions are. “Set boundaries — meaning don’t rush into assigning a personal label like Dad or Mom or son or daughter until your relationship is a bit more established and both agree it is the best next-step to take. The intensity at the start of a reunion can be misunderstood to be intimacy and an immediate bond. So, slow it down! Read all that you can about healthy relationships, communication, boundary setting, and practice building your capacity for patience in whatever way you can.” Bonus: Mindfulness Guide Looking for a resource to help you emotionally prepare for contacting a DNA match? Check out our mindfulness guide that includes breathing exercises and journaling questions. Click the button below to download and use the PDF guide. 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While ancestry DNA testing is more and more of a household topic, the genetics field with the most potential to impact our daily lives in the near future is much murkier. Before you spend any money on an at-home, or direct-to-consumer (DTC) health-related DNA test, there are lots of things you should consider. In this article, we are going to cover key things you should understand before you fork over your saliva for another round of digital-only results that at first glance — and probably second, third, and fourth glance — can cause confusion and undue stress. Here are 12 things to consider before taking an at-home health DNA test: 1. How are at-home DNA tests meant to be used? "Most DTC DNA tests are intended for entertainment, not for medical management," advises Ellen Matloff, President and CEO of My Gene Counsel. "But if you stumble across information that places you at higher risk for a genetic condition, it is worth discussing with a genetic counselor and your doctor to evaluate the best next steps." 2. Do you have a family history of disease? As an expert, Matloff advises consumers, "If you have a personal and/or family history of a disease and you are trying to figure out your risk of developing that disease, I would not recommend a consumer DNA test. Speak to a certified genetic counselor, by phone or in person, and figure out the best and most accurate test for your situation." This applies to both carrier screening and genetic health predisposition testing. With a known family history, if you want to look into inherited health risks for cancers and other conditions, you can still order a test from home; however, you will likely need to look into a different tier of DNA testing, with pre-test genetic counseling. Most tests that you can order online require people with a family history to have pre-test counseling either from a physician or genetic counselor that okays your order and makes sure that it is the right test for you, so that you know the risks, what to do about them, and you don't waste stress and money on a test that doesn't benefit you. If you have a family history, here's what you should know: Physician approval tests may reject you, so you would just be refunded and referred to a medical specialist. Pre-test counseling is recommended. Targeted screening is likely more informative (instead of just looking for a few things related to lots of diseases, you can get all of the info (as suggested by a doctor) about one health risk or genetic disorder. You can use DTC as a tool, but if you aren't a doctor, you might be lost. 3. Do you want a medical diagnosis or just a low-priced first opinion? However, Dr. Charlie Murphy reinforces, if you want to take a test for medical reasons, "it is always advisable to do so through your doctor." At-home testing can help indicate things, but it is often not considered diagnostic due to test limitations. For example, DTC testing company 23andMe is FDA approved, but if you want to know your BRCA status, you should go to the doctor. Why? Consider how extensive the test is. Matloff advises, "If you want to take a consumer DNA test for fun, be sure you understand the risks (privacy, unintended family results, potentially incomplete or inaccurate health information) before you spit and send." There are more than 1,000 known variants between BRCA1 and BRCA2 that are known to increase cancer risk. Out of 1,000 variants, 23andMe only tests for three, which are prevalent only for people with Ashkenazi Jewish descent. According to 23andMe, only about one in 40 people with Ashkenazi heritage has one of the three variants its report tests for. In contrast, when the general population is considered, one in 400 people have a known BRCA variant, when a full panel is considered. Additionally, when it comes to carrier screening, test panels and technologies have a huge effect on what you can learn from a DNA test. 4. What is your ethnicity? Ethnicity and genetic health analysis have a complicated relationship. Your ethnic background makes some tests more or less relevant. Here are a few examples: Certain genetic diseases are often more prevalent in people of certain ethnicities. Most genome studies have been focused on people with European ancestry. DNA tests often focus on the most common SNPs, or genetic variants that indicate either genetic carrier status or health risk. These aren't always relevant for every test-taker. Creating targeted health test panels for specific ethnicities doesn't always solve the problem because our self-reported ethnicity is reductive, especially when we have diverse backgrounds. 5. What state do you live in? Depending on where you live, you may not be legally allowed to participate in consumer-access DNA health screening. This is true in varying degrees, for people that live in New York, Maryland, or Rhode Island. However, there are exceptions on a test-by-test basis. 6. Can you handle the stress? Learning about your health risks, or your risk of passing on a disease to any children can be stressful. Do you really want to learn about it from a computer screen that you can't ask questions to? Carrier screening is a great example of this. Dr. Barnish explains, "Finding out if an individual is a carrier of a genetic disease can lead to serious anxiety, required testing of partners, testing of other family members and concerns when conceiving. Many parents, that both screened positive for the faulty gene, would have to opt to go down the route of genetic screening of embryos and IVF route when conceiving, costing them time, anxiety and lots of money. For people that cannot invest in this way, then they may choose to never conceive given the risk. Given, not all genetic diseases would leave people in this situation. Given this, a DTC test should always have some medical professional support or advice prior to taking the analysis and afterwards to support with the results and subsequent advice." 7. Would you want to learn about risk for a disease that isn't curable? Just like the stress that may come learning you are a genetic disease carrier, and have the possibility of passing it on to your children, testing for genetic health risks might be stressful, even when you properly understand the results. A national survey found that 74 percent of people would be interested in learning about genetic health risks for diseases with no known cure. In fact, 78 percent said they were most interested in learning their risks for developing Alzheimer's disease. Would you feel the same? While genetic health risk does NOT mean that you will get the condition, many people may feel worried to know the risk exists. In fact, 23andMe offers a privacy setting for health customers, where results for certain disease risks can be excluded from your results. 8. Is aftercare included in the price of your test? Follow-up is key to personally benefiting from the burgeoning DNA health information market. Before you order a test, you need to know whether you will be provided with a genetic consultation by your testing service, whether the cost is included in the price of the test, or whether you need to seek out advice on your own. 9. Can your doctor help interpret your results? The vast amount of health data that you can learn from a DNA test is crazy, but what happens when you bring your results to your physician for help? Physician reactions may vary, but it seems like there is room for improvement. Only about 30 percent of people who take a health-related DNA test share the results with their healthcare provider. One of the issues is that doctors might not be well-trained in providing actionable advice or help with understanding a DNA test's results. In fact, 85 percent of physicians say that they don't feel comfortable answering genetics questions. However, as the idea of a health-based DNA test becomes more and more common, this attitude won't be around for long. For example, a 23andMe study "found that doctors’ understanding and perceptions of DTC genetic testing changed significantly after testing,” says one of the paper's co-authors, Esther Kim, PharmD. Before testing, 25 percent said they were comfortable discussing genetics and genetic health risks. After testing, 60 percent of respondents felt more confident. As genetic health testing becomes more commonplace over the next few years, this should improve vastly. However, at this point, not all medical professionals are on the same page yet about providing genetic advice. 11. How will your data be protected? Most Americans feel positive about the importance of genetic research. In fact, a survey from the American Society of Human Genetics (ASHG) shows that 43 percent strongly agree that it's important to improving the health of their family. In addition to that, another 34 percent somewhat agree. Most DTC DNA testing companies offer consumers the opportunity to participate in genetic research. While most people agree that genetic research is important, data privacy is also a high priority. The ASHG survey also strongly indicates that people want to know exactly how their data is used. When deciding whether or not to participate, 66 percent of respondents said that research participation consent and data privacy would factor into their choice. You likely feel the same. Be sure to read through any and all privacy information provided by a DTC DNA service before you submit your sample. You need to know exactly how your DNA will be stored and shared, and what options you have in the way of research participation, account deletion, and what actually happens to your DNA sample. 12. If my test results are negative, am I in the clear? Scientists only finished mapping the human genome in 2003. We know what the encoded proteins are supposed to do. We know what things are supposed to look like normally, but we don't understand most of the possible mutations mean, whether they are benign or pathogenic, and the extent of their influence. Due to this, no genetic health test is completely conclusive. It's important that we don't let negative test results foster a false sense of security. Each DNA test has its own limitations. This is true for both genetic health risks and carrier screening. Researchers go to work every day to advance what we know about genetics and health. There is much we do not know. In addition to the unknown, there are still further limitations to this type of test and its results. Genetic health testing limitations are due to the technology and analysis used to turn your genetic code into answers. This is especially true when it comes to non-clinical testing. Each company has its own testing panel, but what they have in common is that they aren't complete. Here are two examples: Genetic Health Risks Carrier Screening If you take a DNA test from AncestryDNA and you get information back that you do not have any BRCA variants, you might feel great. What you should know is that there are a million variants and this test only says that you are negative for the ones it covers. If you take a DNA test from 23andMe and you get results saying that you are negative as a cystic fibrosis carrier, this means that you don't have any of the pathogenic carrier status variants, or mutations, included in the test. However, the test doesn't cover all known pathogenic variants. While expanded screening for less-common variants related to both health risks and carrier screening are available clinically, they still can't rule out all possibilities because we don't know the significance of all possible variants. It's important to keep these limitations in mind both when deciding whether to take a test, and when going over your test results. Read More: What Are the Benefits and Risks of Direct-to-Consumer Genetic Testing? (NIH/U.S. National Library of Medicine) Results of At-Home Genetic Tests for Health Can Be Hard to Interpret (NPR) The Limitations of At-Home Genetic Tests (Cancer Treatment Centers of America) Should You Get a Home Genetic Test? (Harvard Men's Health Watch) Should You Get At-Home Genetic Testing? Know the Facts First (University of Michigan Health Management) At-Home Genetic Tests Miss Many Mutations Linked to Cancer, Especially in Ethnic Minorities (breastcancer.org)
Imagine this: You go to the doctor for help with depression. She prescribes you an antidepressant. Weeks pass and you can't tell if it is making a difference. You get a four-week follow-up appointment and your medication dose gets adjusted or your prescriber gives you a different medicine, and you get to wait several more weeks to see if it's working. In the meantime, you have to put up with side effects like headaches, blurred vision, nausea, bad breath, bathroom troubles, and trouble sleeping — all for a medication that you don't know is even going to help you. If this sounds familiar, you are not alone. Millions of Americans are living with depression. We don't yet fully understand what causes depression. Due to that, treating depression isn't easy and it's certainly not quick. Over 12 percent of Americans take antidepressants — for 30 percent of them, meds don't work. When a person is prescribed a medication to treat depression, it is a process of trial and error. About half of patients with moderate to severe depression do not respond to their first medicine. You don't always get it right on the first try. For people looking for relief, this can be a huge problem. They are left feeling hopeless and alone. Life would be so much easier if your clinician could get it right on the first try. What if you could just take a simple test to figure out what medications would work best? Fortunately, there an up-and-coming medical answer on the horizon — the field of pharmacogenomic testing. If you haven't used this type of test yet, it's likely that you will in the near future. In this article, we will be explaining pharmacogenomic (PGx) testing, its potential benefits and limitations, as well as different routes for accessing it. What is pharmacogenomic testing? Pharmacogenomic (PGx) testing combines two fields of study: pharmacology and genomics, to provide people with the medications and medication doses that they are best suited for, based on their genome found using DNA testing. This emerging field of genetic testing offers many benefits to patients with more than just depression. PGx testing can provide helpful insights for all types of medications, whether treatment has already been started or not: If you are already taking medication, a PGx test can help you better understand why you are having side effects. If you haven't started taking medication yet, a PGx test can help inform your doctor which medications would be most beneficial to you, with the lowest risk for negative side effects. Before we dive further into the topic, let's clear up a few key terms that are often used in connection with this topic. Pharmacogenomics, pharmacogenetics, and more key terms Many different related terms are often used to refer to PGx. Some are synonymous, others are adjacent, and still others occupy a confusing in-between space where they sometimes mean the same thing, but not always. To better understand the topic, we are going to define a few useful key terms. These definitions come from the National Institute of General Medical Sciences Glossary: Genetic code — "The instructions in a gene that tell the cell how to make a specific protein." Pharmacodynamics (PD) — "The study of how drugs act at target sites, called receptors, on organs and tissues in the body." Pharmacogenetics (PG or PGt)— "The study of how people's genes affect their bodies’ responses to medicines, often one gene at a time." Pharmacogenomics (PGx) — "The study of how people's genes affect their bodies’ responses to medicines, often encompassing the entire genome." Pharmacokinetics (PK) — "The study of the level of a drug and its breakdown products in the blood over time." Precision medicine — "An emerging approach for disease prevention and treatment that takes into account individual differences in lifestyle, environment, and biology." Side effect — "The effect of a drug, other than the desired effect, sometimes in an organ other than the target organ." Note: The term pharmacogenetics is often used interchangeably with PGx; however, Pharmacogenomics Knowledgebase (PharmGKB) explains, "In general, pharmacogenetics usually refers to how variation in one single gene influences the response to a single drug. Pharmacogenomics is a broader term, which studies how all of the genes (the genome) can influence responses to drugs." In this article, we will be using them synonymously. Why is PGx testing important? As we mentioned, PGx DNA testing has the potential to help more than just people with depression. It can help people who take all sorts of prescription drugs because drugs don't work the same for everyone who takes them. A UK drug executive made waves in the early 2000s by estimating that 90 percent of prescription medications work for less than half of people. This is where the study of pharmacogenomics has the potential to changes lives — by reducing trial and error treatment and helping to develop more specialized medicines. Benefit #1: Moving away from trial-and-error The main goal of pharmacogenomic testing is to contribute to the field of tailored, personalized treatment. Known as precision medicine, this field aims to "target the right treatments to the right patients at the right time, "according to the FDA. Issam Zineh, Director of the Office of Clinical Pharmacology (OCP), explains, "Personalized medicine aims to streamline clinical decision making by using biological information available through a genetic test or biomarker, and then saying, 'based on this profile, I think you're more likely to respond to Drug A or Drug B, or less likely to have an adverse reaction with Drug C.' The idea is to get patients on the right medication and to get them on it sooner." PGx information can help make sure that people are prescribed a medication that will help treat their symptoms as soon as possible. Genetic information can also help to avoid many adverse drug reactions (which bring more than 1 million people a year to the ER), and provide better dosing guidelines, to help patients avoid side effects. Starting a proper treatment plan earlier and steering clear of negative side effects and severe drug reactions will help to improve patient health. It will also help to save time and money, let alone stress and pain. Benefit #2: Developing better drugs Studying the relationship between genetic variations and medication can help to revolutionize the pharmaceutical industry. Where before, the goal was to make drugs that worked for the largest about of people, with the fewest negative side effects, this data can help to identify subsets of people that will do better or worse on a prospective medication. This means that new drugs can be developed that work better for individual groups. So, in addition to bettering our understanding of existing medications, PGx study can aid the creation and marketing of more effective, tailored drugs. How do genes affect medication responses? It's easier to understand how each person's DNA can make our medication experiences different if we need to have a basic knowledge of a drug's journey through our bodies, and the factors that affect this journey, both internal and external. In this section, we are going to explain how your genes can change drug responses from two perspectives: pharmacokinetics ( a drug's movement/pathway through the body) and pharmacodynamics (how drugs interact with their target sites in the body). A drug's journey through your body Once a medicine enters your body, its life is broken up into four steps: 1. Absorption — This stage starts when a drug enters your body and lasts until it's in your bloodstream. Drugs enter the body in several different ways, but to explain this stage, we are going to explain using the most common example: orally. Once you swallow a pill, it gets absorbed in the tissues of your GI tract. From there, it travels through a special blood vessel to your liver. 2. Distribution — From your liver, the drug disperses into tissues and intercellular fluids, where it can bind to receptors. Drug molecules can disconnect from receptors and enter the bloodstream. In this stage, you can feel the side effects of your meds when, during its flow through your bloodstream, organs other than the intended destination are affected by it. 3. Metabolism — Once the medication has been distributed throughout the body and reached its target, its time to go. The drug molecules traveling through the bloodstream can undergo changes in a process called metabolism. This happens in your liver and other tissues. 4. Excretion — Once your liver enzymes break down the medication, it is inactive. It gets excreted from your body in the normal course of waste elimination. Your genes can interfere with the way that a drug is supposed to interact at each stage of the process. For example, if your genes block a drug from being absorbed, it can't move on to distribution, and you may need to try another medication or a different administration method. Most issues related to drug processing happen during step 3 — metabolism. If your genes make you code more enzymes than the average person, you will metabolize certain medications much more quickly. In this circumstance, you may do better on a different dosage or a different drug that is metabolized by different liver enzymes. Helpful resources: Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine Check out this helpful youtube video from Ted-Ed: How does your body process medicine? How does PGx testing work? A PGx test looks for genetic variations that would cause you to process a medication than the average person. DNA testing focuses either on a panel of medications related to diseases, targeted medication panel, or known variants and their influence. It's really just down to how the genetic testing company organizes the information. PGx testing angles: targeting genes, drugs, and diseases More than 400 FDA-approved medications include pharmacogenomic drug labelling information. In general, this information includes different actions to take based on biomarkers. It's a newer practice, but doctors have begun to use PGx testing in a few circumstances. To get a better idea of the role that your genes play in your body's reaction to medications, let's examine some examples. Here are three different examples of drug-gene relationships, with three different angles: Gene function — starting from what we know about gene function, applying it to different medications that treat multiple diseases Medication function — starting from a disease-specific medication and finding out what genes and genetic variants that affect its ability to function optimally Disease-targeted needs — starting from a disease for which you need to be treated, and testing for genes known to affect disease-targeted meds, to find which meds will work best Cytochrome P450 and known variants: Targeting insightful genes Variations in the Cytochrome P450 (CYP450) family of genes are a great example of how genes affect medication response. The CYP450 family contains genes responsible for coding enzymes that affect drug metabolism — how quickly your body processes drugs. In fact, 70 to 80 percent of the enzymes that affect drug metabolism rates are cytochrome P450 enzymes. Included in the cytochrome P450 enzyme family is CYP2D6, a gene related to the processing of many antipsychotic and antidepressant meds, among others. This gene is known to affect up to 25 percent of commonly prescribed medicines, including the following: Antidepressants — Amitriptyline (Elavil), Clomipramine (Anafranil), Desipramine (Norpramin, Pertofrane), Doxepin (Sinequan), Fluoxetine (Prozac, Sarafem), Fluvoxamine (Luvox), Imipramine (Tofranil), Maprotiline (Ludiomil), Nortriptyline (Pamelor), Paroxetine (Paxil, Pexeva), Trimipramine (Surmontil), Venlafaxine (Effexor) Antipsychotics — Aripiprazole (Abilify), Haloperidol (Haldol), Olanzapine (Zyprexa), Perphenazine (Trilafon), Risperidone (Risperdal), Thioridazine (Mellaril) Pain meds — Codeine, hydrocodone, oxycodone, tramadol Depending on your genetic variants, you can be classified as one of the following: Poor metabolizer — You break down related medications slowly. Doctors can use this information to give you different doses. Intermediate metabolizer — Your enzymes are working, but not as well as normal metabolizers. Normal metabolizer — Your CYP2D6 enzymes are coded as normal. Standard prescribing and dosing recommendations should work best for you. Ultra-rapid metabolizer — Based on your genetic variants, your CYP2D6 enzymes are very active, which causes you to break down related medications really quickly. You may need increased dosages or drugs unrelated to this gene for best results. Indeterminate — The test wasn't able to predict your enzyme activity, so standard drug selection and dosing are recommended. Read more: Mayo Clinic — Cytochrome P450 (CYP450) tests Abacavir (Ziagen): Targeting genes based on a specific drug Abacavir, brand name Ziagen, is an antiretroviral medication for HIV patients. In clinical trials, some patients developed a hypersensitivity reaction, with symptoms like headache, fever, rash, nausea, and more. When people stop taking the drug, symptoms go away. However, if they start taking it again, a "rapid, severe, and even life-threatening recurrence" can occur. Now, before people are prescribed this medication, the FDA's drug label recommends they be screened for a genetic variation called HLA-B*5701. If tested positive, genetic screening helps you avoid the toxic and possibly life-threatening reaction. Heart disease: Testing for multiple variants that affect the treatment of one disease Cardiovascular disease (CVD) is the leading cause of death in the United States. The term actually refers to several heart conditions that affect your heart's ability to function properly. One example, coronary artery disease, happens when blockages decrease blood flow to your heart muscle, so it doesn't get the oxygen it needs. When you have heart problems, in addition to lifestyle recommendations, your doctor will likely prescribe medications to help treat your symptoms. Examples include the following: Angiotensin-converting enzyme (ACE) inhibitors, like benazepril (Lotensin), ramipril (Altace), and captopril, are prescribed to help help with high blood pressure by widening your blood vessels Anticoagulants, like enoxaparin (Lovenox), heparin, and warfarin (Coumadin), are prescribed to help prevent heart attack, stroke, and other issues. They prevent blood clots from forming, so that a blockage doesn't shut off blood flow to your heart. Beta-blockers, like metoprolol (Lopressor), labetalol (Trandate), and propranolol (Inderal), are often prescribed to help prevent heart attacks. They work by blocking chemicals that stimulate your heart, so it can beat more slowly. These are just a few of the different categories of drugs that are used to manage heart disease and its symptoms. Because they target different things, it's common for doctors to prescribe multiple medications for people that have CVD. Pharmacogenomic testing has the potential to help improve the way that your cardiovascular disease is treated. People react in different ways to CVD treatments. Your genes can give us clues to the way that your drugs are absorbed, distributed in your body and how quickly they are metabolized. Currently, CVD drugs with clinically actionable genomics-based FDA label recommendations are Warfarin and Clopidogrel. Warfarin dose adjustments are based on variants of CYP2C9 and VKORC1 and Clopidogrel recommendations are based on CYP2C19. Read more: Opportunities and Challenges in Cardiovascular Pharmacogenomics Where can you get PGx testing?: Access routes, examples, and recommendations You can access PGx testing from your doctor or by ordering online. Tests that study relationships between genes and drugs have lots of names, including the following: Pharmacogenomic (PGx) test Pharmacogenetic (PG or PGt) test Genetic pharmacology test Medication response test Drug response test Personalized medication test Either way, PGx test results are meant to be shared with your doctor, to help get the best medication or dosage for you. Clinical PGx testing If you are interested in learning about medications that work best for your or your dependents, and you have a current clinical reason, your first step should be your doctor. Your doctor can order clinical PGx testing at an accredited lab, if indeed it is recommended for your circumstance. In general, blood samples are used for these in-lab tests, although cheek swab samples are also used. When you take a clinically prescribed test, a big benefit is that insurance might cover the cost, depending on your coverage. One example of clinical PGx testing is provided by Cincinnati Children's Hospital's Genetic Pharmacology Service. The hospital offers tests panels focused a couple different things: The Psychiatry Pharmacogenetics Expanded Panel looks for genetic variations that are related to over 20 common psychiatric medications. The Opioid CYP2D6 Pharmacogenetics Panel looks for genetic clues to how your body processes common opioids (codeine, tramadol, hydrocodone, and oxycodone). In addition to these panels, there is another that looks for warfarin predisposition in CYP2C9 and VKORC1, as well as targeted genotyping for specific genes, including CYP2C19, CYP2C9, CYP2D6, CYP2D6 / CYP2C19, TPMT. Physician-prescribed or referred PGx testing On the other hand, many genetic testing companies work with physicians to provide low-cost (lower-than-clinical cost) DNA testing services for health purposes, including genetic health risks, carrier screening, and pharmacogenomics. In these cases, your doctor can prescribe a test, which you order online, based on your doctor's referral. Sometimes, a doctor will partner with a DNA testing company to offer in-office purchases for a DNA kit that a patient does on their own at home. Availability depends on your doctor. At-home and direct-to-consumer (DTC) PGx testing If you want to take charge and proactively learn about your predisposition for certain medication responses, it's becoming more and more common to be able to order these tests online, provide a sample at home, mail it back to the lab, and receive your results online, which can be shared with your doctor. However, there are four different general groups of at-home tests and analysis that you should be aware of. Each has its own hoops to jump through, as well as test limitations, based on regulatory approval, lab location and accreditation, physician-involvement, and more. Though the individual platforms and sellers of at-home DNA kits for PGx testing vary, at-home tests do not produce clinical results. They also often take longer than in-lab bloodwork or saliva sample tests, because of shipping and wait times typical for consumer DNA testing. Additionally, even when shared with your doctor, you may be required to take follow-up clinical testing to verify the test results. That's why it's best to ask your doctor first. PGx testing via DTC online ordering While the FDA has approved one company, 23andMe to provide DTC PGx testing, this service is not currently available, unless prescribed by a physician. Despite this, on Hong Kong-based genetics company offers an easy-to-order DTC test: #1 CircleDNA The Circle Premium DNA Test ($629) includes lots of health information and lifetime access to the platform. It also includes drug response information about 103 FDA-approved medications. The test includes two 30-minute phone consultations with Circle's trained staff to help you understand and benefit from the results, but doesn't require a physician to sign off on your order before it is approved. PGx testing via online ordering (with independent or on-staff physician order approval) #1 Color Genomics Color offers medication response analysis with the Color Standard service (only available through employer programs or from healthcare providers, as well as in the Color Extended test ($249). Color tests can be ordered by your own physician or, when you place an online order, it is reviewed by an independent physician. Included in the cost of testing is a one-on-one genetic counseling session to help understand your options. The test includes 14 genes associated with common meds: CYP2C19, CYP2D6, CYP1A2, CYP2C9, CYP3A4, CYP3A5, CYP4F2, DPYD, F5, IFNL3, NUDTI15, SLCO1B1, TPMT, and VKORC1. #2 ONEOME ONEOME offers a RightMed ($349), co-developed with Mayo Clinic. Itests for specific variants in 27 genes. This test isn't a DTC test because physician ordering is included. A 30-minute genetic consultation is included to help understand your results. Pay with a credit card, HSA card, or PayPal This test offers gene-based results. It doesn't include information regarding specific drugs. This means that you do need to rely on follow-up to better understand your results and what they mean. #3 Helix Helix offers the Mayo Clinic GeneGuide test ($149), which among much other health information, including carrier status and disease risk, also includes four medication response reports, with information about Ibuprofen and Omeprazole. Includes physician ordering and genetic counseling. Not available for people in New York. PGx testing via online ordering (requires physician approval to activate) #1 GnomeDX Rather than physician review at the time of order, with this DNA testing company, anyone can go to the website to order a DNA kit. From there, you need to go to the doctor who prescribes your test: CardiacDX, PsychDX, PainDX, or Complete DX. CardiacDX ($250) covers inherited heart disease risk assessment as well as genes that relate to 40+ medications PsychDX ($250) is recommended for people that have already been diagnosed with depression, anxiety, ADHD, bipolar disorder, epilepsy, and similar conditions. It covers 12 genes related to 92 mental health drugs PainDX ($250) tests for genetic variations in seven genes that affect your reaction to more than 34 medications CompleteDX ($250) doesn't include any disease risk assessment (CardiacDX), but it does cover genes related to 150 medications of various types — heart, pscyh, diabetes, pain, GI, and more PGx information from analysis platforms Some testing companies focus on providing an online platform focused on providing health information (including drug response details) first, and genetic testing second. Here are a couple of examples: #1 Pharmazam The Pharmazam PGx test ($499), which provides information on all prescription drugs (more than 130,000) and most over the counter meds. This isn't a DTC test. You can request the test online, but a Pharmazam doctor places your order. Additionally, your results are reviewed by medical staff before you get them. For this test, you need to download the app and update your personal health information. In addition to genetic information, the app also reports interactions with other drugs, illnesses, allergies, foods, and lifestyle. #2 SelfDecode Whether you order a SelfDecode DNA test or you upload your raw DNA from another source, you can get access to more than 70 categories of health reporting, including pharmacogenomics. This DNA analysis platform requires an annual subscription ($59) or lifetime membership ($199). 6 Key PGx Takeaways Now that we have covered the PGx basics and explained how to get a test, if you are interested, there are a few key points to share with you before you take a DNA test. Here are four key points that you should know before you take a PGx test. 1. PGx is relatively new and interpretation of test results are evolving Professor Peter Gregersen, MD, from the Institute of Molecular Medicine at the Feinstein Institutes for Medical Research shares this advice, "The data on pharmacogenetics is still in a relatively early stage of interpretation, although some can be useful." The issue for most consumers is understanding what actually constitutes useful information. Research is ongoing and, just as we don't yet understand all of the genetic components that relate to disease, we don't yet understand all the ways that your genes (and the proteins they encode) will affect or derail a medication's prescribed course through your body. If you are looking for a current reason why your medications aren't effective, your first stop should always be your physician or prescriber. They can let you know whether a PGx test would be helpful in your circumstances. 2. PGx is just one part of the puzzle It is important to know that your genetic variants are just one of many things that affect how your body responds to drugs. The Merck Manual on drug response shares the following factors: Genetic makeup Age Body size Use of other drugs and dietary supplements (such as medicinal herbs) Consumption of food (including beverages) Presence of diseases (such as kidney or liver disease) Storage of the drug (whether the drug was stored too long or in the wrong environment) Development of tolerance and resistance It's important to understand that PGx test results can provide helpful information, but there is much more at play than your genes. Those results aren't actionable until all of the other factors are taken into account. One company, PHARMAZAM, is trying to help people partially overcome this hurdle. Its platform lets you input your personal health and lifestyle information, including diseases and all of the drugs you are taking. From there, you can take a DNA test to add the genetic drug-response factors (that we know of) to the equation. 3. PGx testing isn't yet routine In 2015, President Obama gave precision medicine a shout out in the State of the Union address, announcing the new Precision Medicine Initiative. The group's mission statement is as follows: "To enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized care." Drug response DNA testing isn't currently a standardized clinically accepted practice, but it's expected to be a normal practice by 2023. While PGx tests are not yet a part of routine medical care, "Nevertheless, they are likely to be quite useful in certain cases," advises Gregersen, "so it is not a bad idea to have this information available to you." The future goal is to have DNA info on file so that when you need a medicine, your doctor can guide your treatment, without needing to order additional testing and wait for results. However, we are nowhere near this point. Unfortunately, you may run into issues when requesting this type of test from your doctor. Survey results show that only 28 percent of genetic counselors feel comfortable ordering PGx tests. Worse than that, the survey also shows that only 13 percent of physicians report feeling comfortable doing it. If doctors and genetic counselors aren't comfortable ordering a PGx test, how will they be with helping to interpret and provide actionable advice? "There is no harm in getting this info and having it available for your physician or pharmacist to interpret," says Gregersen. "But beware, not all physicians and pharmacists are knowledgeable about this, and there is still lack of agreement on interpretations and their utility, which is why these tests are not routinely part of medical care yet." 4. PGx test limitations, both general and test-specific There are many limitations to the field and practice of PGx testing, including big and small issues. According to the Mayo Clinic, current PGx testing limitations include the following: "One single pharmacogenomic test cannot be used to determine how you will respond to all medications. You may need more than one pharmacogenomic test if you are taking more than one medication. Pharmacogenomic tests are not available for all medications. Because pharmacogenomic tests are available only for certain medications, your health care provider determines if you need to have a pharmacogenomic test prior to beginning a specific treatment. There are currently no pharmacogenomic tests for aspirin and many over-the-counter pain relievers." In addition to these industry-wide limitations, each PGx test itself has its own limitations. For example, the ONEOME test includes this disclaimer: "The test does not detect all known and unknown variations in the gene(s) tested, nor does absence of a detectable variant (designated as *1 for genes encoding drug metabolizing enzymes) rule out the presence of other, non-detected variants." — and that's not even the whole disclaimer. It goes on and on. When you join an online health decoding platform or buy a DNA test, even those that include physician approval as part of the ordering process, are sure to state that test results are for educational purposes only, are subject to interpretation, and are not a substitute for medical advice. Additionally, each test is different. You need to make sure that genes relevant to your current situation are being studied. The extensiveness of a test depends on the number of known variants it is looking for, as well as the type of technology that is being utilized to look for them. For example, a simple microarray test will hunt for and record known variants, while a test that uses sequencing will record the whole gene in question, to show not only the most common variants, but even uncommon ones. Finally, with at-home DNA testing, Dr. Gregeresen advises, "Again, anything that you act on should be confirmed in a clinical approval lab." 5. PGx test results don't tell you which medication(s) are best for you When you take a PGx test, you won't just get a result that says 'Drug A is always the drug one for you.' It's actually kind of the opposite. Results will explain how your genes affect your body's processing of drugs related to that gene. With interpretation, you can see drugs that may not be effective for you, drugs that you may need higher or lower doses of, or even those that you try to avoid for your own safety. It doesn't work the other way around. 6. PGx test results don't make you a doctor Pharmacology is complex. Taking a PGx test will provide you with detailed information, but it doesn't make you all-knowing. Don't change your medications or doses, or stop taking current medications without talking to a doctor. This is one of the biggest concerns when it comes to DTC-marketed PGx tests. While drug-gene relationships can be helpful, you need to understand that your prescriber takes into account environmental interactions, your size and weight, and other possible drug interactions that affect a medication's efficacy and its side effects. Theirs is an educated, objective, integrative approach. If you stop taking your medication or change your dosage on your own, without a green light from your prescriber, you put your own health at risk, in more ways than you may understand.
Feel like you missed the boat on DNA tests? You're likely not alone. To many of us, the subject of genetics went from a vague memory of my sixth-grade bio teacher talking about monks, pea pods, and hemophilia (which had something to do with Anastasia, but nothing about a rumor in St. Petersburg), to an everyday subject that people everywhere seemed to be familiar with. It feels like DNA testing suddenly went from a long-forgotten science test to a pop-culture staple — with shout-outs in Top 40 song lyrics, celebrities learning about their genetic ethnicity on TV and posting their results on social media, and every political pundit on news networks — fake and not — sharing their opinion on a certain U.S. Senator's DNA test. Since the human genome mapping was completed in April 2003, personal genetic data has become more and more accessible to everyday Americans. This is largely due to the easy, at-home DNA kits that DTC companies use to collect DNA samples. Just check out the popularity of the search term on Google: In fact, by 2021, an estimated 100 million people will have taken a direct-to-consumer DNA test. While physician-directed diagnostic genetic testing definitely still has its place, direct-to-consumer DNA testing offers people a slew of different insights, all with a simple cheek swab or saliva sample. If you live in the United States, there is no doubt that you are aware of DNA tests, but are you interested? Do you wonder what people are really getting out of the whole thing? What benefit do people actually gain from taking a DNA test? Why should I take (and pay for) a DNA test? We've got you covered: In this article, we are going to share eight big reasons why you might want to consider taking a DNA test. If you have a hard time seeing the appeal of what some may consider invasive and possibly risky, here are a few reasons why other people find them so interesting: 1. If you are curious about your roots Let's start at the root of it all. The first successful direct-to-consumer (DTC) DNA tests on the market focused on providing people with information about their genetic ancestry. But, did you know that you can learn different things from testing fundamentally different parts of your DNA? Recent generations: Autosomal DNA tests Autosomal DNA testing offers information about your ancestors within approximately the last ten generations. Rather than names and dates, which, for many people can be much harder to learn about, due to the need for a paper trail, and correctly recorded information in the first place, from your DNA, you can learn about your family's cultural and geographic origins. An autosomal ancestry test provides people with an ethnicity estimate. Based on your DNA, inherited from mother and father combined, your results estimate which parts of the world your ancestors came from. With all that has changed in the world within the last several hundred years — vast immigration, political changes, famines, wars, and more — it can be a comfort to many people to help establish or clarify some kind of ethnic identity. A long time ago: mtDNA and YDNA tests Not only can you learn things about your family within the last ten generations, but if you haven't noticed, humanity has been around for a long time. This is where your sex chromosomes can help to trace back, at least one line of your direct ancestry for millennia. Sex chromosome DNA testing is broken into two groups: Mitochondrial DNA (mtDNA) testing follows your mother's family line, tracing a DNA sequence that has been inherited directly from your mother, her mother, her mother, and so on, for thousands of years Y Chromosome (YDNA) testing follows your father's family line. This traces a directly inherited YDNA sequence that has been passed down, unchanged, from father to son for many generations Susan Roth, from U.K.-based testing company Living DNA, explains about ancient ancestry testing, "Living DNA also tests your motherline (mtDNA) if you are female, and both your motherline and fatherline (y-DNA) if male. This DNA allows us to determine your haplogroup which reveals your ancestors' paths out of Africa." Note: Some companies combine both recent and distant ancestry DNA analysis into one ancestry DNA test product (ie, Living DNA, 23andMe), while others focus just one one type of testing, either autosomal or sex-chromosome testing kits. 2. If you are interested in own well-being Roth explains that DNA testing offers consumers the ability to "Understand the role genetics plays with your lifestyle choices and how you can optimize your well-being." There are lots of options available if you are looking for a genetics testing company that will provide suggestions to help improve your well-being. You will often see different DNA kits offering traits reports bundled together in different packages. Roth explains that the genetic markers tested in this type of analysis affect a wide range of things, from weight management and digestion to strength, stamina, and nutrition. "You will discover how genetically your body breaks down different vitamins, food types and the exercise program that can support you." 3. If you want to improve your sleep "As someone who writes about sleep for a living, I was super-curious to take an at-home DNA test and see what, if anything, it could tell me about my sleep," says Christina Heiser, the sleep health blog manager at Saatva. "I did 23AndMe and found out that I'm less likely than the average person to get deep sleep. When I learned that, I decided to take a few steps to improve my sleep quality, including wearing blue light-blocking glasses when using my phone or laptop before bed and trying to eat dinner at least three hours before going to sleep." 4. If you want to find biological family "You might want to buy a DNA test kit if you've used an egg donor or sperm donor to help create your family," suggests Stephanie Smith from Pacific Palisades, California. "I have five children and three are not biologically related to me. I've used DNA kits to hopefully connect my children to their half-siblings, if they exist. We aren't interested in finding the donor or the donor's family per se, but we are highly interested in connecting our children to other children who share their DNA. Our egg donor has made at least four donations and each time the eggs she produced were shared with multiple families, including international families. How many half siblings my kids have is unknown, but I'm very excited to connect with those other families, both the kids and the parents who are raising them." Finding biological relatives draws millions of consumers to the DNA testing industry each year. Depending on the test provider, a common feature of autosomal testing is the ability to match you with people that you share significant DNA in common with. Basic offerings include a listing of how many centimorgans of DNA you share and a relationship estimate. Most databases will sort by the amount of shared data and estimate how closely you are related to other DNA samples in the database. Depending on the story and the family, searching for biological relatives can provide unexpected, or shocking results. However, as Smith mentions, she is not necessarily interested in contacting the children's biological father, but in knowing any half brothers and sisters out there in the world. 5. If you want to contribute to ongoing research You might want to buy a DNA kit if "you want to contribute to science and medicine," suggests Dr. David Koepsell J.D, Ph.D, Founder of EncypGen. While DNA testing services use customers' data for research or share de-identified data to third parties, like pharmaceuticals, you have a few options. If you participate in DTC genetic testing, you can opt-in to participate in research, which can go to things like The Ancestry Human Diversity Project or 23andMe's new Type 2 Diabetes Risk Test. Additionally, Koepsell adds, "since most testing companies make most of their money selling your data to researchers doing basic research on the human genome; and if you choose any number of new online marketplaces (like EncrypGen, Nebula Genomics, or LunaDNA) you could even sell that data yourself and make the money you spent on the test back!" 6. If you want a tailored workout suggestion "You might want to buy a DNA test kit if you want to save time and find the best workout based on your DNA, or if you currently workout and are not seeing results," suggests Franklin Antoian, one of the country's top 50 trainers and founder of iBodyFit.com. Antoian also works for FitnessGenes, a website helping people to do just that: find the workout that is most effective for their own body. Just how will DNA data analysis help to find that key workout? "FitnessGenes DNA test results will let you know the ideal amount of reps, sets, resistance and rest time to use during your workouts," explains Antoian. "Your results will also recommend the amount of workouts that you should perform per week." Personalized fitness insights are also offered through DNA testing companies like Orig3n, Vitagene, and Helix. 7. If you're interested in longevity A DNA test might be a good tool for you, "If you're interested in longevity," says John O'Connor, Founder of Gene Food, Inc., a provider of personalized, DNA-based diet and nutrition plans. "For example, heart disease is the number one killer of both men and women in the United States. Many of those deaths are entirely unexpected and sudden." Genetic tests can help you focus on the health risks that you are more predisposed to. While O'Connor advises, "Regular lab tests and doctor visits are the first line of prevention," there's more to the story. "Thanks to advances in genetics research, DNA testing can help identify individuals who are at a greater risk for heart disease." "Celebrity trainer Bob Harper, of The Biggest Loser, suffered an unexpected heart attack in his fifties at what appeared to be the peak of his physical health. Lab testing revealed he carried a genetic marker linked to an especially dangerous type of 'bad cholesterol' called Lp(a). Most doctors in America do not test for Lp(a), but the predisposition towards higher Lp(a) levels shows up on genetic tests. When done early enough, genetic screening can put people on notice that they need to be even more vigilant in prioritizing cardiovascular health. Heart disease develops over the course of a lifetime, so knowing genetic predispositions as soon as possible can be a powerful tool for staying in good health well into your eighties and nineties." You can learn about your genetic health risks from a variety of testing services. Some, like Color, AncestryHealth, and Invitae, even include genetic counseling services to help understand your results. However, if you have a family history of disease, or you are concerned about a specific health condition, you should consider talking to your doctor or a genetic counselor before paying for any of the available at-home tests, which may not be the most beneficial to your needs. 8. If you want to know what supplements to take You might want to buy a DNA test, if "You want to ensure that you are taking the correct vitamins and minerals for your body," says Dr. Daniel Wallerstorfer, PhD, cofounder of Rootine, a company that custom-made daily vitamins tailored to your DNA, blood levels, and lifestyle. "A DNA test can tell you which nutrients are harmful, which may have no effect, which form of a vitamin you should take, and the best dosage for your body." While everyone needs essential vitamins and minerals to be healthy, not everyone's bodies are the same. Due to searchable mutations in your genetic code, there are many cases where your genetic predisposition to vitamin uptake can be important. For example, Rootine tests 52 genetic variants with a proven impact on individual nutrient requirements. The selected variants are chosen based on research. In fact, says Wallerstorfer, these are based on DNA evidence from over 500 research reports. You might wonder, what kind of things you can really learn about your individual nutritional needs from a DNA profile. Dr. W shares a few examples where understanding your genes can help: The APOA1 gene impacts the way your body handles Omega 3 fatty acids. If you have a certain variation on your gene, taking additional Omega 3 can worsen cholesterol levels (vs. having the beneficial impact everyone believes). Vitamin D is a critical vitamin in the body, and the VDR gene is responsible for activating the vitamin. If you have a certain variation on the VDR gene, your gene doesn't function as well as it could, causing you to need 2x the average amount of Vitamin D. Depending on the type of MTHFR gene mutation that you have, you should either take methylfolate or a higher dosage of folic acid. CoEnzyme Q10 is a powerful antioxidant used in many beauty regimens. If you have a variation on the NQ01 gene, your body cannot use CoQ10, which means it will simply go to waste.
Are you among the millions of Americans who have taken a DNA test? What were you interested in learning about? For 36 percent of Americans, the opportunity to learn about their personal health and family health history is a big motivation. While best known for providing people with information about their ancestry, direct-to-consumer (DTC) genetic testing companies have piqued public interest in what we can learn from our genome, adding data about the inheritance of physical traits, wellness suggestions, and recently available health tests. When you order DTC genetic testing, various types of health-related insights are available. Your test results come back separated in report categories, based on distinctive fields of genetic research. Genetic health risk testing Carrier status screening Pharmacogenetic analysis Wellness reporting However, to everyday consumers, the distinctions between these health and well-being reports, can be a bit hazy. In this article, we will be focusing on health risk testing, which can be a difficult concept to grasp at first glance. Genetic risk screening results can be quite informative, but first, you need to know what it actually involves and have an idea of its scope, scale, and limitations. If you want to proactively learn what your DNA has to say about your lifetime health risks, this article is for you. In this guide, you'll learn: What health risk testing is Health conditions studied Benefits of participating Limitations that you need to know about Where you can get a genetic health test 6 ways to make the most of your results Ok. Let's get started. What is genetic health risk testing? In a nutshell, genetic health risk (GHR) testing uses clues in your DNA to predict your likelihood of developing specific diseases within your lifetime. Tests look for distinct inherited gene mutations that are known to increase your risk. If you do have a pathogenic (bad) mutation, this is referred to as genetic risk, a disease susceptibility, or a genetic predisposition toward a certain disease — commonly heart conditions and cancers that have a genetic component. Components of risk Health risk testing covers inherently complex diseases that have a known hereditary component. A genetic risk alone does not mean a diagnosis is in your future; however, combined with other factors, we get a bigger picture of your overall risk. According to the FDA, "GHR tests are intended to provide genetic risk information to consumers, but these tests do not determine a person's overall risk of developing a disease or condition. In addition to the presence of certain genetic variants, there are many factors that contribute to the development of a health condition, including environmental, other genetic, and lifestyle factors." To better understand disease risk, let's first cover the part your genes play in determining risk. Genetic variants Nearly all diseases have a genetic component. Health risk screening looks for specific genetic variations (variants) that, according to scientific research, indicate that you have a genetic predisposition to certain diseases, or a predisposition to a secondary disease risk factor, like high cholesterol. Understanding the scope of genetic predisposition can be a little tricky. The National Institutes of Health explains it like this: "A genetic predisposition results from specific genetic variations that are often inherited from a parent. These genetic changes contribute to the development of a disease but do not directly cause it. Some people with a predisposing genetic variation will never get the disease while others will, even within the same family." To be clear: you don't directly "inherit" cancer. However, you can inherit one or many genetic variants, also referred to as a genetic or cancer susceptibility variants which indicate that you are more likely than the average person to develop cancer within your lifetime. Genetic variants involved in health risk screening come in many different forms: Many genes can affect one specific condition. For example, familial hypercholesterolemia is linked to pathogenic mutations in four genes: APOB, LDLR, LDLRAP1, or PCSK9. Some mutations carry more weight and have a greater effect on your overall calculated risk for a condition, while others, though still indicative, have just a slight impact. Many gene variants are known to contribute to increased risk for multiple conditions. For example, a variant for familial hypercholesterolemia risk means that you are predisposed to have higher cholesterol, which increases the risk of early-onset coronary artery disease. In addition to the genetic factors that we do know about, there are likely still undiscovered genetic components. Not all genetic disease factors are known. So, while we can look for specific known genetic variants that have been recorded and researched, it is important to note that (currently) unknown genetic factors are likely at play. Lifestyle and environmental factors The insights offered by genetic health risk testing are important, but they don't tell the whole story when it comes to multifactorial conditions. Just because you are predisposed to a serious health condition, doesn't mean that you will develop it. One to two percent of Americans have a genetic variant linked to a considerably elevated risk of a serious (but preventable) disease. Many other factors besides your DNA influence whether you eventually get sick. These additional risk factors are common, everyday things that you have the power to adjust, like diet, exercise, alcohol use, smoking, and many others. What health conditions can you learn about with risk screening? As opposed to genetic carrier testing, genetic health risk testing covers conditions that have many factors, genetic and otherwise. When interpreting your DNA, scientists are looking for mutations at specific locations on your DNA, where research has confirmed a positive correlation with the development of specific diseases. You'll notice that we said a positive correlation. This isn't like going to the doctor for a diagnostic test, which indicates you have strep, and the doctor prescribes medicine to fix it. DNA testing for specific known gene variants doesn't provide a binary yes/no answer — except in the case of genetic carrier screening, which examines conditions like cystic fibrosis or sickle cell disease, that are caused by mutations in just one gene. Common panel variants Most health DNA tests cover genetic variants related to many common conditions, including hereditary cancers and heart conditions. To get an idea of what you can learn from a health risk assessment, here are some conditions that are commonly examined: Genetic Variants Looked For Associated with a Genetic Risk For Age-Related Macular Degeneration Adult-onset vision loss Alpha-1 Antitrypsin Deficiency Lung and liver disease BRCA1/BRCA2 Breast, ovarian, and other cancers Celiac Disease Gluten-related auto-immune issues Cardiomyopathy Heart muscle problems Familial Hypercholesterolemia High LDL cholesterol and heart problems G6PD Deficiency Anemia Hereditary Amyloidosis Nerve and heart damage Hereditary Hemochromatosis Too much iron in your blood — can lead to organ damage Hereditary Thrombophilia Potentially dangerous blood clots Late-Onset Alzheimer’s Disease Dementia Lynch syndrome Colon and uterine cancer MUTYH-Associated Polyposis Colorectal cancer Parkinson’s Disease Impaired movement Type 2 Diabetes Blood sugar regulation problems Panel breadth Clinical and DTC DNA health risk tests operate using different strategies. Let's use cancer risk testing as an example. According to cancer.gov, a clinical genetic cancer predisposition test looks for variants associated with inherited cancer susceptibility syndromes that indicate high to moderate increased risk. On the other hand, DTC cancer risk tests look for variants that only have minor individual risk increase. While differences between clinical risk analysis and DTC testing are expected, consumers should also know that the scope of your test analysis varies based on the company that is performing your test. For example, there are thousands of known BRCA variants. Let's compare how thorough the BRCA testing panels tests are for the following companies: AncestryHealth looks for 27 variants 23andMe looks for 3 variants Color and Invitae sequence both full BRCA1 and BRCA2 genes and looks for all mutations What are the benefits of at-home genetic risk screening? Being able to order a health risk test from the comfort of your own home is a newer development. The global direct-to-consumer (DTC) DNA health testing services market is expected to increase by 25.6 percent from $99 million in 2017 to $310 million in 2022. The advent of easy-to-order proactive screening should both raise awareness about common (and uncommon) medical conditions and empower consumers to take control of their health. In fact, a recent Stanford Medicine Report suggests, "This market growth reflects a desire for on-demand care at more affordable prices. … [T]he increased demand for at-home testing demonstrates that patients are deliberately choosing to be more actively engaged and empowered by taking greater ownership of their health." When we are better informed about our individual health risks, multiple benefits arise. Increased awareness The United States has nearly 200 health awareness days, weeks, and months each year — think Movember for prostate cancer awareness, and pink ribbons for breast cancer awareness. In general, public awareness campaigns attempt to educate people about the dangers, warning signs, and screening guidelines for conditions like cancer and Parkinson's disease. Once a person gets their DNA health results back, they can learn about their individual disease risks — and, as humans, we have a tendency to better remember things that directly apply to ourselves. Hence — awareness raised. Additionally, for people who have already taken a DNA test to learn about their roots, access to health testing is simple. As existing customers with DNA testing companies like 23andMe and Ancestry, customers have the option to upgrade their results to add health information for a small fee, rather than having to take a new test. Risk modification If 39.3 percent of men and women will be diagnosed with cancer (heritable or not) in their lifetime, no matter what, how does a risk analysis help anyone? Dr. Andy DeMarco from Connected Health in Wexford, Pennsylvania helps us understand: "These reports show whether you are at a higher risk or predisposition to certain diseases. This is not always a serious life or death condition. For example, these reports can simply show you have a predisposition to higher cholesterol. Knowing this, you can make the decision to take preventative measures such as medication or lifestyle changes." It's all about preventative measures. According to The Cancer Atlas, half of global cancer deaths are caused by potentially modifiable risk factors. Once you know what things you are predisposed to, you can reduce your risk of developing one of these conditions in the future. "Understanding risk can be very useful to individuals and is often a good incentive to alter and adapt their lifestyle to include better health behaviors," asserts Dr. Michael Barnish, Head of Genetics and Nutrition for REVIV Global. Knowing more about your body's susceptibility to disease can provide a personal wakeup call to nudge people towards living a healthier life. The potentially modifiable risk factors we alluded to earlier are the risk factors that you have control over. Healthy habits reduce the risk of developing medical conditions that are dependent upon your lifestyle. According to the American Cancer Society, you have the power to reduce your risk in several ways: Smoking Alcohol Diet Physical activity Excess body weight and obesity Helpful DNA health risk reports will explain what gene variant they are testing for, what condition(s) it is related to, and what lifestyle or environmental factors you can work on to decrease your overall risk. Let's take type 2 diabetes for example. This condition increases the risk of heart disease and other conditions that damage your organs. About 40 percent of people in the United States will develop type 2 diabetes in their lifetime; however, 23andMe explains, "Healthy living can lower the chances of developing type 2 diabetes. It's possible to delay or even prevent the disease by being active, eating healthy foods, and maintaining a healthy weight." Earlier disease detection Taking the opportunity to improve your health is a huge benefit, but it isn't the only proactive step you can take with your newfound disease risk knowledge. You can also talk to your doctor about increased and earlier disease screening. An adjusted screening regimen can help find cancer earlier. Early diagnosis is key to survival for many of the health conditions analyzed. There are many barriers to early diagnosis, including social stigma, fears, and poor awareness. If low-cost genetic screening is made more commonplace, more people will participate and learn their specific health risks. Making disease risks more commonplace can lead to decreased social stigma and earlier discussions with medical providers. Ongoing research potential Easier access to genetic health testing can benefit the general public as well as individual test-takers. The potential benefits of easily accessible genetic health are limitless. Personal genetic health screening is one way to add more research dollars to the genetics industry. From here, what's next? Stanford Medicine's 2017 Health Trends Report shares this perspective: "Experts expect it won’t be long before health data [from various sources, including genetic screening] allows doctors to build more accurate patient profiles and predictive models to more effectively anticipate, diagnose and treat disease. Another outcome of increased monitoring will be more data on healthy people (rather than exclusively on the sick) allowing for earlier detection of disease. Emerging technologies make it possible to routinely evaluate risks for each individual patient based on their genomics. Currently, this is reserved for select cases, but as genetic testing technology becomes more common and affordable, experts predict testing will become routine for all patients." What are the limitations of DNA health risk testing? Among the most important things consumers need to understand is that these complex conditions are still shrouded in mystery, even to the experts. Dr. Peter Gregersen is a professor at the Institute of Molecular Medicine at the Feinstein Institutes for Medical Research and has over two decades of experience in the field of genetics. According to Dr. Gregersen, getting actionable data is a big hurdle. "[T]here are a lot of common illnesses such as diabetes, rheumatoid arthritis, heart disease, and liver disease, that have very complex genetic components," he explains. With hundreds to thousands of genetic components contributing to one illness, he adds, "Each one confers very little specific risk. Definitely not actionable [on its own]." Inexact risk scoring GHR testing doesn't provide a simple binary answer because a DNA test alone cannot tell the future, when it comes to complex diseases. However, it can help to provide an educated guess. If a yes/no answer isn't available, how are your risks measured and turned into actionable results? Dr. Gregerson advises, "There are efforts going on to combine these many risks to get to a point where you could say something useful — these are called polygenic risk scores." However, the trouble is that the science behind polygenic risk scoring is still evolving. It's not concrete. He explains, "they are not at the point where we really know what to say to people with a high score." Predictive isn't the same as diagnostic Understanding the difference between risk and diagnosis can be confusing, especially when health risk screening is provided as a DTC product. Dr. Barnish warns that "anxiety and poor understanding of risk versus diagnosis can mean that people find themselves worrying, or will feel the need for [unwarranted] medical interventions." Genetic predisposition screening is predictive, not diagnostic. As Dr. Barnish puts it, this "is where genetic testing seeps from the medical diagnostic side of things into lifestyle genetics." It is meant for proactive, personal educational use. Rather than diagnosing a condition, looking for your individualized health risks is informative, but not a definitive diagnosis. "Understanding someone’s risk to a disease is not diagnostic, it is just predictive," says Barnish, "using statistics and the scientific data held on the genes and their disease associations to determine to what extent someone is born with an underlying genetic risk. This means that if you have a high genetic predisposition for a disease, this does not mean you will necessarily develop the disease." If you have specific symptoms or a family history of disease, you should contact your medical provider, rather than take a non-clinical DNA test that you found online. Additionally, a personal or family history of disease likely increases your risk in certain areas, and if the health risk screening that you take doesn't include a family medical history or a physician consultation, you might not even be taking a test that benefits you. Not a crystal ball Health risk screening isn't a crystal ball. It can't see the future. But it can help to predict it. What your test results will do is say whether you are more likely to develop a certain health condition, compared to other people. To recap, there are many reasons why GHR screening is not the end-all-be-all solution we want it to be. It definitely has limitations, including the following: We can only test for known variants — we don't know them all Not everyone who tests positive for a known mutation will get sick People who don't have a known mutation can still get sick Your environment and lifestyle are also factors, which GHR doesn't account for For the most part, getting a diagnosis requires a doctor's medical analysis of your symptoms and physician-ordered clinical testing to confirm what is causing your symptoms A genetic health risk test can't even say whether you currently have the condition Diagnostic testing, for the most part, is reactive, not proactive — tests are ordered by your doctor for a specific purpose Diagnostic testing regularly requires drawing a blood sample in a medical-grade facility, with chain of custody rules in place, not an at-home saliva sample Where can you get genetic health risk screening? If you are interested in getting proactive genetic health screening performed, there are several different avenues used to purchase health risk DNA testing. These include both online purchases, as well as physician-ordered testing. Clinical genetic testing If you have current symptoms, you need to visit the doctor. Ordering a DNA test won't cut it. While a GHR assessment will be able to help you better understand your lifetime risk of developing a specific multifactorial disease or health condition; it won't be able to tell you if you even have the disease currently. GHR tests do not replace visits to the doctor. DTC and physician-ordered at-home tests alike make this distinction. Risk assessments are for healthy, asymptomatic people interested in learning more about their genes and tailored preventative measures they can take to reduce their risk. Additionally, people with a family history of disease may benefit from a different type of testing or more in-depth genetic panel screening. Talk to your doctor or a genetic counselor about your concerns, your circumstances and what you want to learn. Direct-to-consumer DNA testing In the United States, the Food and Drug Administration is in charge of regulating direct-to-consumer testing GHR testing: "Companies that offer DTC GHR tests are required to obtain FDA clearance prior to offering their first test. Companies may then offer most additional DTC GHR tests without FDA premarket review, provided they meet specific requirements that are described in the regulation for this type of test and are not for specific higher risk uses." Direct-to-consumer health testing hit a snag in 2013, when the FDA sent a warning letter to trailblazer 23andMe, warning the company to start marketing health-related DNA tests without FDA approval. 23andMe, the first DTC company in the United States to market such tests worked with regulators for two years to get approval. It began marketing and selling its health DNA tests in 2015, and is the only FDA-approved DTC DNA testing company. 23andMe As part of the company's Health + Ancestry Service ($199), consumers can order an at-home DNA kit to learn about their carrier status on 40+ conditions, as well as health risks for 10+ conditions, including a new Type 2 Diabetes report, produced from 23andMe research, which tests over 1,000 genetic variants related to the disease. No genetic counseling is included in your order. 24Genetics This Spanish DNA testing company offers a Health DNA Test ($199), which looks for 40+ genetic health risks and 100+ genetic carrier statuses. This test is not FDA-approved. No genetic counseling is offered. Online physician-ordered testing Several U.S.-based DNA testing companies offer services where consumers place an order online, which is reviewed by a physician. If approved, the physician officially orders the test. Because a physician reviews and orders your DNA kit, the service doesn't have to be FDA-approved. Here are a few examples where you can order a doctor-approved test online: AncestryDNA AncestryDNA is a well known direct-to-consumer DNA option. However, its new health-related service, AncestryHealth ($149), is not a DTC product. Each test includes a fee for an independent physician to review and approve your order, as well as genetic counseling after you get your results. Risk analysis for six health conditions is offered, including certain cancers and heart conditions. If you have a high risk score, you will get free access to educational webinars. This test isn't FDA approved or available in Rhode Island, New York, or New Jersey. This is just Ancestry's first foray into health testing and has an upgraded NGS-based AncestryHealth Plus subscription service coming soon. Helix Helix offers a DNA app store of sorts where people can buy a DNA kit and provide a sample at home, but tests are offered by a third party. One example is the Mayo Clinic Gene Guide. Health-related test prices include a fee for an actual doctor to review your case and place the official order for you. The following are examples of health risk tests you can get from Helix: GenePrism: Actionable Insights by PerkinElmer Genomics ($299) offers health risk testing of 59 genes that are related to 30+ health conditions, including heart, cancer, connective tissue, and metabolism disorders. Physician ordering and genetic counseling are included. This test isn't available in New York. Mayo Clinic Gene Guide ($149) offers information to users about a variety of health information, including carrier screening, pharmacogenomics, health traits, and disease risk. However, only four conditions are covered in the risk category: Age-related macular degeneration, coronary artery disease, atrial fibrillation, coronary artery disease, and venous thromboembolism. The cost includes physician ordering and genetic counseling services. It's not available for people who live in New York. Prostate Cancer Genetic Risk Score by NorthShore University HealthSystem ($199) is validated for men with African American, East Asian, and White European ancestry. It provides a genetic risk score based on dozens of single nucleotide polymorphisms (SNPs) that have been shown to increase prostate cancer risk. This price of this test includes independent physician review and genetic counseling services. This service is not available for residents of Maryland, New Jersey, New York, Pennsylvania, or Rhode Island. Invitae As a non-DTC option, Invitae offers healthy adults proactive genetic screening that you can order online. An independent physician reviews your order and genetic counseling is included in your full price. Additionally, if you have personal or family history of disease, you can still order the test online, but you have to do a pre-test consultation with either a doctor or a geneticist to make sure that you are participating in the proper test. A decision tree helps you to decide which test is best, or whether you should contact a physician to get actual diagnostic testing. The following proactive health screening options (for healthy adults) are available with Invitae: Invitae Cancer Screen ($250) covers 61 genes related to several hereditary cancers, including the following: Breast cancer Colorectal cancer Cutaneous melanoma Gastric cancer Ovarian cancer Pancreatic cancer Prostate cancer Renal cell cancer Thyroid cancer Uterine cancer Invitae Cardio Screen ($250) covers 77 genes associated with the following hereditary heart conditions: Aortopathies Arrhythmias Cardiomyopathies High blood pressure and cholesterol Thrombophilia Invitae Genetic Health Screen ($350) covers 147 genes, including everything in both the Cardio and Cancer Screen, as well as genetic variations that are linked to the following conditions: Alpha-1 antitrypsin deficiency Hereditary hemochromatosis Wilson disease Malignant hyperthermia susceptibility Ornithine transcarbamylase deficiency The majority of GHR tests that you can order online are truly meant for healthy people that want to proactively learn about their risks and don't have a significant family history. People with a higher level of risk, such as those with family history, need to consult with a genetic counselor or a doctor before online ordering is approved. This means that they can get advice about the testing that will truly be beneficial for them, rather than wasting time and money on less-specialized analysis. 6 tips for making the most of your health risk analysis Of healthy adults that participate in proactive genetic health risk testing, 16.5 percent or roughly one in six people will learn about a clinically actionable variant indicating increased risk for cancer or heart disease. Whether learning about an increased health risk leaves you feeling worried, confused, or just ambivalent, here are several suggestions to help you get the most out of your DNA test results: 1. Know how to interpret your test's results One of the biggest keys to actually benefiting from your DNA health risk test lays in making sure that you understand the results. This is a common concern, especially for DTC testing. Each DNA testing company is different. How your health risk results are presented can vary. They even offer different levels of analysis or real-life advice based on the genetic variations found. On the genetic variant level, the CDC offers these three types of DNA results: Positive — Your results show a gene variant associated with a disease Negative — Your results do not show a variant known to cause disease (see #2 for more) Uncertain — Your results may show an unknown genetic variant or a variant of uncertain significance (could be disease-causing or benign). Not sure. On top of that, depending on the company you test with, you may be assigned a risk score, either by percentage, or a scale from low to high. Be sure to read your results key or scoring rubric before you view your results. 2. Don't put too much stake in a negative result Just because your health risk screening doesn't say you have an increased risk for a disease, doesn't mean that you are in the clear. For example, the American Cancer Society says, one in three people will still develop cancer in their lifetime and "Only about 5 percent to 10 percent of all cancers result directly from gene defects (called mutations) inherited from a parent." Negative results pose an interesting issue, especially with targeted screening. As Michal F. Murray, et al advise in an article published in the National Academy of Medicine's Perspectives, "Adequate education and resources must also be in place for those who test negative, because it is critical for participants to understand the limitations of a negative result within a targeted screening approach. For example, negative BRCA1/2 or Lynch syndrome testing does not exclude the possibility of other hereditary cancer syndromes." Remember, the FDA warns about DTC tests, "Some genetic health risk tests do not report all known genetic variants that might contribute to an increased risk of disease. Even if you receive a negative result for a genetic health risk test, you should continue with regular preventative care, such as annual checkups and screenings recommended by your health care provider." Along with regular checkups, you should still report any worrying health symptoms to your doctor. Additionally, if you still have any genetic concerns based on what you know of your family history, get advice from a medical professional or a certified genetic counselor before paying for additional testing. 3. Get some follow-up "[W]hat can be achieved with [health risk] analysis is determined by whether there is a detailed follow-up report or consultation," advises Dr. Barnish. While your genetic risk may be set in stone, your overall risk is not. Complex diseases like these are highly influenced by external risk factors, environmental, and therefore risk can be lowered to counteract a high genetic risk, or to maintain a low genetic risk," explains Barnish. "This genetic information, coupled with preventative advice, again built on scientific reference, can make this sort of analysis empowering and even life-changing." To turn those results into a healthier you, getting real professional advice to combine that info with your current health state, your family history, and more lifestyle factors helps to show a snapshot rather than a puzzle piece. They can help you to understand how the different gene reports tie together. While some companies offer follow-up consultations with a genetic counselor, not all do. "Generally, this type of DTC analysis is not led by a medical professional," says Dr. Michael Barnish, Head of Genetics and Nutrition for REVIV Global. Without proper guidance, he says, "the risk can be misunderstood, misinterpreted, or irrelevant without the preventative discussions." Risk management Managing your risks, based on your genetic health predispositions can take many forms, based on your diet. Here are a couple of examples, from DNA testing company progenity: If you have a risk for colorectal cancer, action steps include earlier and more frequent colonoscopy screening, taking preventative medication, and the possibility of risk-reducing surgery. If you have a hereditary risk for breast or ovarian cancer, action steps may include starting mammogram screening at an earlier age, getting mammograms more frequently, getting advanced breast MRI screening, taking preventative medication (for hormone-receptor-positive breast cancer tamoxifen or birth control pills), and even possibly having prophylactic surgery to reduce your risk. While some risk factors you don't have control over, like your genetics or the ozone layer, there are several that you can control. It doesn't necessarily mean taking drastic measures. One example of using this to your benefit can be seen with the BRCA2 carrier gene. Matloff explains, "female BRCA2 carriers would qualify for breast surveillance (mammograms and breast MRIs) at younger ages, and with greater frequency." Knowing your risks provides an opportunity to take measures to prevent the development of disease. Creating an action plan to modifying your risk behaviors is one way that your doctor or genetic counselor can help to provide constructive methods to manage your lifetime disease risk, even with a known genetic variant. Read More: Check out the World Cancer Research Fund's Cancer Risk Matrix Earlier and increased screening While you can't 100 percent prevent ever getting a heart condition or cancer, you can adjust the frequency of diagnostic health screening, where needed. Earlier and more frequent screening leads to earlier detection, which increases survival rates. Let's use breast cancer as an example. Cancer can grow inside your body for years before symptoms arise. So, people with a higher risk can benefit from an adapted breast cancer screening plan. For example, the American Cancer Society provides the following general breast cancer screening guidelines for women: Risk Age Recommendation Average Risk 40–44 Optional annual mammograms Average Risk 45–54 Annual mammograms Average Risk 55+ Mammograms annually or every other year When you know about a genetic predisposition, your risk can change, with different screening recommendations, based on the pathogenic variants you carry. As an example, here's how a BRCA 1 or 2 mutation can change your advised screening regimen, according to the National Comprehensive Cancer Network (NCCN): Risk Age Recommendation High Risk (Confirmed BRCA 1 or 2 mutation) Under 25 Clinical breast exam every 6–12 months High Risk (Confirmed BRCA 1 or 2 mutation) 25–29 Clinical breast exam every 6–12 months Annual breast MRI (preferred) or mammogram High Risk (Confirmed BRCA 1 or 2 mutation) 30+ Clinical breast exam every 6–12 months Annual MRI and mammogram High Risk (First-degree relative with a BRCA 1 or 2 mutation) 30+ Clinical breast exam every 6–12 months Talk to your doctor about genetic testing before adding annual MRI screening 4. Confirmational testing DTC DNA tests are for fun. If you need to go to the doctor, you should do it before shelling out $100+ and waiting 6–8 weeks for results. However, if you have gotten your DNA test results back and they indicate a genetic predisposition to one of the covered health risks, Ellen Matloff MS, CGC, CEO, My Gene Counsel advises, "[I]f you receive information back from a DTC DNA test (for example, you carry a pathogenic mutation in BRCA2)," she says, "this information is important enough that you should see a certified genetic counselor and discuss repeating the test with a new DNA sample and through a medical-grade laboratory." Clinical confirmation is needed to rule out false-positive results and provide targeted, more detailed risk analysis. After your new results are back, she adds, "your genetic counselor will work with you and your physician to help make positive changes for your health." 5. Use your raw data Up to 62 percent of consumers who have taken a DTC DNA test use third-party applications to interpret the raw data and health information not included in companies’ reports. If you have taken an autosomal DNA test, whether for health or ancestry, and you are interested in further analyzing your DNA for health risks, and more, you can download your raw data file and upload it to one of many third-party analysis sites, including the following: Promethease SelfDecode Genetic Genie DNA.Land Livewello 6. Talk to family Each risk score is a personal risk score, just for the test-taker. While these hereditary diseases, by definition, "run in families", that doesn't mean that everyone will have the inherited variant. Despite this, positive predisposition results can affect your whole family. Here are a few examples: If you test positive for a pathogenic or likely pathogenic variant, your first-degree relatives (parents, siblings, and kids) have up to a 50 percent risk of having the same variant. Compared to all breast cancer cases, inherited BRCA 1 mutations influence just a small percentage of people. But, if you have one, your lifetime cancer risk is 72 percent. Knowing that a first-degree relative has a known mutation is enough evidence to start breast cancer screening early, according to the NCCN. (see screening above) Final advice So, should you take a genetic health risk test? We asked Ellen T. Matloff, MS, CGC, CEO, My Gene Counsel for advice: "If you have a personal and/or family history of a disease and you are trying to figure out your risk of developing that disease, I would not recommend a consumer DNA test. Speak to a certified genetic counselor, by phone or in person, and figure out the best and most accurate test for your situation. If you want to take a consumer DNA test for fun, be sure you understand the risks (privacy, unintended family results, potentially incomplete or inaccurate health information) before you spit and send."