Health Risk Screening 101: DNA Testing Essentials You Ought to Know

Anne-Marie Hays

Last Updated: March 17th, 2021

Doctor showing patient information on a laptop

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:

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


Breast, ovarian, and other cancers

Celiac Disease

Gluten-related auto-immune issues


Heart muscle problems

Familial Hypercholesterolemia

High LDL cholesterol and heart problems

G6PD Deficiency


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


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, 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.


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.


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 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 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.


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:




Average Risk


Optional annual mammograms

Average Risk


Annual mammograms

Average Risk


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):




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)


Clinical breast exam every 6–12 months
Annual breast MRI (preferred) or mammogram

High Risk (Confirmed BRCA 1 or 2 mutation)


Clinical breast exam every 6–12 months
Annual MRI and mammogram

High Risk (First-degree relative with a BRCA 1 or 2 mutation)


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."

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