Frequently Asked Questions

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A gene is a specific instruction stored in your body that helps determine how you grow, develop, and function. Genes are made of DNA and act like recipes that tell your cells how to make proteins. These proteins do much of the work in your body, including shaping physical traits like eye color, influencing how organs function, and helping your body respond to illness.

Each gene has a particular job. Some genes affect visible traits, such as hair texture or skin pigmentation, while others influence less obvious processes like how your body breaks down food, fights infection, or repairs cells. Small differences in genes—called genetic variations—help explain why people look different from one another and why some people are more likely to develop certain health conditions than others.

You inherit your genes from your biological parents, receiving roughly half from each. This shared genetic information is why family members often resemble one another and may share similar health patterns. While most genes work the same way in everyone, certain variations can increase or decrease the likelihood of developing specific diseases.

In addition to health, genes also carry information about ancestry and family history, helping scientists understand how people are related and how populations have changed over time. Together, genes shape both our individual characteristics and our shared human diversity.

Humans have roughly 20,000 to 25,000 genes in our DNA that help build and regulate the body. Of these, a small number are considered medically actionable. A medically actionable gene is one where, if a harmful change (variant) is found, doctors and genetic counselors can take steps—such as screening, preventive care, or other interventions—that may reduce your risk of serious health problems.

The American College of Medical Genetics and Genomics (ACMG) is a professional organization that develops guidelines for how genetic information is used in healthcare. One of ACMG’s key contributions is a regularly updated list of genes that are considered medically actionable in certain types of genetic testing. This list is focused on genes where identifying a harmful variant could lead to changes in medical care that help prevent or reduce serious harm. Over time, the list has evolved: it started with fewer than 60 genes and has been expanded as evidence and clinical knowledge have grown. The most recent recommended list now includes around 80–85 genes that laboratories may report when significant variants are found during clinical genomic sequencing which informs genetic testing, screening, and counseling.

Because the ACMG list changes as science advances and more is learned about how genes affect health, it is reviewed and updated regularly. If a pathogenic or likely pathogenic variant is found in one of these actionable genes, it can provide an opportunity for early intervention, tailored screening, preventive care, or other medical decisions that could reduce the chance of severe disease.

Getting a genetic test can help you find out whether you carry any of these medically actionable gene variants. That information can be used to work with your healthcare team to develop a plan that fits your health needs—whether that means increased monitoring, risk‑reducing strategies, lifestyle changes, or other options to support your long‑term health.

Yes, genes have names. Scientists give genes specific names so they can clearly identify them, study what they do, and understand how changes in them are connected to health conditions.

For example, the gene TCF7L2, which stands for Transcription Factor 7-Like 2, has been strongly linked to an increased risk of Type 2 Diabetes, particularly in BIPOC populations. Another well-known set of genes are BRCA1 (Breast Cancer 1) and BRCA2 (Breast Cancer 2), which are associated with a higher risk of breast and ovarian cancer. The CFTR gene, meaning Cystic Fibrosis Transmembrane Conductance Regulator, is linked to cystic fibrosis, a condition that affects the lungs and digestive system. The LDLR gene, or Low-Density Lipoprotein Receptor, is associated with familial hypercholesterolemia, a genetic condition that leads to high cholesterol and increases the risk of heart disease.

Naming genes allows researchers and healthcare providers to communicate clearly, track how genes function, and better understand how genetic differences influence health. This knowledge supports genetic testing, improves early diagnosis, and guides more personalized prevention and treatment strategies. It is especially important for advancing health equity, as clearer gene identification and understanding help address long-standing gaps in genetic research and genetic healthcare for historically underserved populations.

A genetic test is a medical test that looks at DNA, genes, or chromosomes (which are bundles that organize DNA and genes inside cells) to understand genetic health. DNA is the set of instructions that carries information passed down through families. Genes are small sections of DNA that influence traits and can affect the risk for certain health conditions. By analyzing your genes and DNA, and other genetic health information, genetic tests can help identify inherited conditions or show an increased risk for developing certain health conditions, such as some cancers and diabetes, even before symptoms appear. There are different types of genetic tests used for different purposes. Some are used to diagnose genetic conditions, others estimate future health risks, and some are used for screening or family planning. Genetic testing is a valuable tool that provides insights about how to prevent disease and promote optimal genetic health, especially for BIPOC communities, who have historically been underserved and underrepresented in human genetic research and genetic healthcare. Access to genetic testing can help close gaps in diagnosis, improve early detection, and support more personalized and equitable healthcare decisions. Genetic testing can be done through a healthcare provider or at home using approved test kits. The test usually uses a small sample of blood or saliva, which is sent to a laboratory for analysis. Results are often available within a few weeks.

Genetic tests include predictive, carrier, pharmacogenomic, and prenatal tests. They can be used in people who show signs or symptoms of a disease, as well as in those who do not have any symptoms but want to understand their health risks or family planning options. These tests can confirm or rule out a suspected inherited condition and provide insights about your likelihood of developing a condition or passing it on to your children. Prenatal tests, for example, are genetic tests that can be done before a child is born or at other times during the lifecycle. It’s important to remember that genetic tests are not available for every gene or every condition. However, as research advances, scientists are discovering new genes and learning more about how they impact health. Your genetic test results can help you make informed decisions about your health and guide your choices for managing risks for diseases and disorders.

Genetic test results can be classified in several ways:

• Pathogenic: a genetic change that is known to cause disease.
• Likely pathogenic: a change that probably causes disease.
• Variant of uncertain significance (VUS): a change where there is not enough evidence to know if it is harmful or harmless. These results may change as more research becomes available. VUS findings are not considered actionable, so medical decisions should be guided by your personal and family health history.

It is recommended that you meet with a licensed genetic counselor, referred by your doctor, to understand what your results mean and what steps to take next. Somewhat different from genetic testing, is genetic screening which is usually done in people who do not show signs or symptoms of a disease. These tests estimate whether your risk of having or developing a condition is higher or lower than average, based on your family history and ancestry. A positive screening result means your risk is higher than average, while a negative result means your risk is lower than average. It’s important to remember that a positive screening result does not mean you have the condition; screenings provide estimates, not definitive answers. However, they can guide your next steps in healthcare, such as whether a more detailed genetic test is recommended.

• Diagnostic testing to determine if you have a suspected disease or disorder like breast cancer, ovarian cancer, Type 2 Diabetes, or Huntington's disease.
• Pre-symptomatic or predictive testing to determine if you have family history of a genetic disease or disorder and want to get a test before you have any symptoms to tell you if you're at risk for developing a condition. 
• Carrier testing to determine if you belong to a genetic disease risk ethnic group, like being Black, known to be high-risk for developing certain diseases or disorders, like Type 2 Diabetes or sickle cell anemia, or if you have a family history of a genetic disease or disorder. This type of test can detect genes associated with a variation of diseases as well as tell you if you and your partner are carriers for the same conditions.
• Pharmacogenomic testing to determine which of your genes affect the way you metabolize medicine. This means that if you have a particular health condition or disease, this type of genetic test can help you understand what medication and dosage is most effective and beneficial for you.
• Prenatal testing to detect, in pregnant individuals, some types of abnormalities in your unborn baby's genes, like down syndrome.
• Pediatric genetic testing or newborn screening to determine if your newborn is at risk for developing a certain genetic disease or abnormality that causes a specific disease condition, like congenital hypothyroidism.
• Preimplantation testing if you want to understand genetic abnormalities and you are attempting to conceive a child. A result from this type of genetic test is that your embryos that do not have abnormalities can be implanted into your uterus with the hope of achieving a healthy pregnancy.

There are many benefits to getting a genetic test or undergoing genetic screening, and both can give you useful information about your health and your family’s health. One of the most important benefits is learning about your carrier status—whether you carry genes for certain health conditions that you could pass on to your children. For example, knowing about your genetic health information  is especially valuable if you are a woman planning a pregnancy, because it gives you time to explore family planning options with confidence and support. Knowing your carrier status can help you and your partner make informed decisions, whether you choose preimplantation genetic diagnosis (testing embryos created through in vitro fertilization before pregnancy), using donor eggs or sperm, adoption, or planning for the possibility of a child with an inherited condition. It can also help some couples avoid passing on certain serious genetic conditions. Genetic testing and screening also have benefits beyond reproductive planning:

• Early awareness of health risks: Some genetic tests can show if you are at increased risk for certain conditions before symptoms appear. This early knowledge can allow you and your doctor to take steps to prevent or delay disease, such as more frequent monitoring, lifestyle changes, or preventive treatments.
• Personalized health care: Genetic information can help guide medical decisions that are tailored specifically to you. For example, it can influence the types of screening you get, how often you get them, and even which medications might work best for you.
• Reducing uncertainty: Whether results are positive or negative, genetic testing can give you a sense of clarity and peace of mind. A negative result might reduce unnecessary worry and testing, while a positive result can help you and your doctors plan more proactive care.
• Supporting family health: Because genes are shared with biological relatives, genetic results can be useful for other family members too. Your results may help siblings, children, and other relatives understand their own risks and make informed health choices.
• Options during pregnancy: Genetic screening can also be part of prenatal testing, which can help identify genetic conditions in a fetus. Some types of screening are non-invasive and can reduce the need for more invasive tests.

In summary, genetic testing and screening can help you make informed decisions about your reproductive options, plan personalized healthcare, develop interventions, prepare emotionally and medically for future decisions, and offer valuable information for you and your entire family’s health.

Some people carry genes that can increase the risk of certain health conditions, disorders, or diseases. This happens because we can inherit specific genes from our parents. For example, the BRCA1 and BRCA2 genes are linked to higher risks of breast and ovarian cancer. A genetic test can analyze your DNA in a lab to see if you carry changes in these genes. Test results can be positive (meaning a gene change is present), negative (no significant change found), or inconclusive (uncertain significance). In scientific terms, these are called pathogenic or likely pathogenic, not pathogenic, or of unknown significance. Genetic testing helps explain your carrier status (your likelihood of having a gene linked to disease) and can also provide information about potential risks for family members. Working with a board-certified genetic counselor can help you understand your results and make informed decisions about your health. Counseling can guide you through options for prevention, monitoring, or lifestyle changes, depending on your results.

It’s important to know that not everyone carries BRCA1 or BRCA2 genes. Studies show that about 5–10% of people inherit these gene changes from their parents. Even so, genetic testing is a valuable tool for understanding your personal and family risk, especially as part of routine genetic wellness screenings. It provides actionable information that can help you make proactive choices about your health, whether or not you ultimately need counseling.

Genetic counseling is a conversation with a trained professional that helps individuals understand which genetic test is most appropriate to order, what the test can and cannot tell them, and how to navigate affordability and insurance coverage. Counseling can take place before or after genetic testing and may be conducted in person, by phone, or via video. The goal is to provide clear, practical information that supports informed decision-making without unnecessary worry.

Genetic counselors are an integral part of the healthcare team, working alongside providers to recommend appropriate, evidence-based genetic testing, interpret results, and explain their medical and familial implications. Genetic counselors focus on getting patients the right test at the right time, reducing unnecessary testing, shortening the path to a clear diagnosis, and supporting informed treatment decisions—benefits that also lead to meaningful cost savings across private and public health insurance programs.

For most individuals, genetic testing does not

 identify a serious health condition. In cancer-related genetic testing, approximately 5–10% of people may have a genetic change associated with increased risk. For broader health screening, the American College of Medical Genetics and Genomics (ACMG)—the professional organization that sets standards for clinical genetic testing—recommends evaluating specific medically important genes. About 2–3% of healthy individuals carry a change in one of these genes, and the likelihood that it will actually result in disease is generally around 7%.

Genetic counselors help patients understand which results are clinically meaningful, what next steps—if any—are recommended, and how personal and family medical history informs risk. As part of the healthcare team, they work with providers to support evidence-based care planning and long-term health management for patients and their families.

Human genetic research studies how differences in DNA affect health, disease risk, and how people respond to medical care. It’s important because it helps identify who may be at risk for inherited conditions, improves diagnosis, supports early detection, and guides more effective, personalized treatment. Genetic research is especially important for BIPOC patients because most past studies focused on people of European ancestry. Without diverse participation, tests and guidelines may not fully reflect BIPOC needs, leading to misdiagnoses or less effective care. Including BIPOC populations helps discover gene changes that are more common or unique in these communities, improving health outcomes and equity. BIPOC providers also play a key role. More BIPOC scientists, doctors, and genetic counselors ensure research addresses underserved communities, interprets results accurately, and builds trust with patients. In short, human genetic research benefits everyone, and when it includes diverse populations and providers, it helps reduce health disparities and ensures advances in genetics are shared fairly.

During a routine genetic wellness screening, your medical provider—such as your primary care doctor or a specialist—focuses on evaluating your overall health. For example, if high blood pressure is identified, your provider may check your blood pressure and order a blood test. That sample is sent to a laboratory for genetic analysis to look for health risks that may be influenced by your DNA.

Once the results are available, your medical provider reviews them and, when appropriate, connects you with a genetic counselor. This transition is intentional and supportive. While your provider manages diagnosis and treatment, the genetic counselor specializes in explaining what your genetic results mean for you—clearly, thoughtfully, and in the context of your personal and family history.

If your results suggest an increased risk for conditions such as heart disease, your provider can use this information to guide your care. This may include prescribing medications that are better suited to you based on your genetic makeup. This personalized approach, known as pharmacogenomics, helps ensure treatments are effective and tailored specifically to you. Together, your medical provider and genetic counselor work as a team, each with a distinct role, to support informed, personalized health decisions and long-term wellness.

You can do one or several things immediately. First, relax and take a deep breath. You are not going to die anytime soon just because of your genetic makeup. Next, get a genetic test to determine your disease susceptibility (also known as your disease risk). Visit our national online Genetic Health Directory today (from our homepage) to get started on your path to precision health. 

Navigate to our national online Genetic Health Directory at the top of this page from the drop-down to get started. There, you can navigate the Directory to connect with a local genetic healthcare provider or genetic counselor of your preference. You can search by zip code, city, state, insurance carrier, language, and genetic health service. Our Directory is updated as new provider listings are added, so be sure to visit often. Access to the Directory requires a membership subscription.

In the United States, the genetic healthcare workforce is made up of several distinct but highly collaborative roles. Based on the most recent national workforce data (2025), this workforce includes:

• Approximately 6,500-6,900 certified genetic counselors,
• About 1,200-1,240 medical geneticists, who are physicians and licensed healthcare providers with specialized training in genetics, and
• An estimated 9,000+ broader genetics-focused health professionals, including nurses, dietitians, laboratory specialists, and physician assistants whose work involves genetics.

Genetic counselors are uniquely trained and certified to interpret genetic test results, assess family health histories, and guide patients through complex genetic information and decision-making. Medical geneticists are medical doctors with advanced training in genetics who diagnose and manage genetic conditions and frequently collaborate with genetic counselors to deliver comprehensive, coordinated care. In addition to these specialists, other healthcare providers—such as OB/GYNs, oncologists, primary care providers, and other physicians—play a vital role on a patient’s healthcare team. These providers often order genetic tests and provide condition-specific care as part of their broader clinical responsibilities. However, they are not trained or certified in comprehensive genetic counseling, which requires specialized education and focused expertise.

Together, this multidisciplinary workforce supports patients across the genetic healthcare journey, combining specialized genetic knowledge with broader medical care to ensure informed testing, accurate interpretation, and appropriate follow-up and treatment.