Genetic Testing: Understanding DNA Tests & Hereditary Disease Screening

What Is Genetic Testing and How Does It Work?

Genetic testing is a type of medical test that analyzes your DNA (deoxyribonucleic acid) to identify changes in genes, chromosomes, or proteins. These tests can reveal inherited conditions, predict disease risk, guide treatment decisions, and provide information about your ancestry. The testing process involves collecting a biological sample, extracting and analyzing DNA in specialized laboratories, and interpreting the results through comparison with reference databases.

Your DNA contains the genetic instructions that determine how your body develops and functions. It is organized into approximately 20,000-25,000 genes, which are segments of DNA that code for specific proteins. These proteins carry out essential functions in your cells and throughout your body. When changes (called mutations or variants) occur in your genes, they can alter how proteins function, potentially leading to disease or increased disease risk.

The human genome - your complete set of genetic instructions - consists of about 3 billion base pairs of DNA organized into 23 pairs of chromosomes. Modern genetic testing technologies can examine anything from a single gene to your entire genome, depending on the clinical question being asked. The level of detail in testing has increased dramatically over the past two decades, with costs decreasing from billions of dollars to sequence the first human genome to just a few hundred dollars for comprehensive testing today.

Genetic testing differs from other medical tests in several important ways. Unlike blood glucose or cholesterol levels that fluctuate over time, your DNA sequence remains constant throughout your life (with rare exceptions in certain tissues). This means a genetic test result obtained at any age will generally remain valid indefinitely. Additionally, genetic information is shared among biological relatives, so results may have implications not just for you but for your parents, siblings, children, and extended family members.

The process of genetic testing typically begins with a clinical consultation where a healthcare provider or genetic counselor reviews your personal and family medical history. This assessment helps determine whether testing is appropriate and which specific tests would provide the most useful information. Not everyone benefits from genetic testing, and the decision to test should be made carefully after considering the potential benefits, limitations, and psychological impact of learning about your genetic risks.

The Science Behind DNA Analysis

At the molecular level, genetic testing relies on sophisticated laboratory techniques to read and interpret your DNA sequence. DNA is composed of four chemical bases - adenine (A), thymine (T), guanine (G), and cytosine (C) - arranged in specific sequences that encode genetic information. The order of these bases determines the instructions for making proteins and regulating biological processes.

Modern DNA sequencing technology uses various methods to determine the exact order of bases in your DNA. Next-generation sequencing (NGS) can read millions of DNA fragments simultaneously, making comprehensive genetic analysis practical and affordable. Other techniques like polymerase chain reaction (PCR) can amplify specific DNA regions for detailed analysis, while microarray technology can scan the genome for known variants across thousands of locations at once.

Types of Genetic Changes Detected

Genetic tests can identify several types of DNA changes. Point mutations involve single base changes (like A becoming G) that may alter protein function. Insertions and deletions involve extra or missing DNA bases. Larger structural changes can affect entire sections of chromosomes. Copy number variations involve having too many or too few copies of specific DNA segments. Each type of change may have different implications for health, ranging from no effect to significant disease risk.

What Are the Different Types of Genetic Tests?

There are several categories of genetic tests, each designed for specific purposes: diagnostic testing confirms a suspected genetic condition, predictive testing identifies future disease risk, carrier testing determines if you carry genes for inherited conditions, prenatal testing screens for genetic abnormalities during pregnancy, pharmacogenomic testing guides medication selection, and ancestry testing explores your genetic heritage. The choice of test depends on your specific clinical situation and the questions you want answered.

Understanding the different types of genetic tests helps you and your healthcare provider choose the most appropriate testing strategy. Each type of test serves a distinct purpose and provides different kinds of information. Some tests are performed in response to symptoms or family history, while others are offered as routine screening to apparently healthy individuals. The landscape of genetic testing continues to expand as technology advances and our understanding of genetics deepens.

The choice between different testing approaches involves trade-offs between comprehensiveness, cost, turnaround time, and interpretability. More comprehensive tests that examine larger portions of the genome may identify more variants but also generate more results of uncertain significance. Targeted tests focusing on specific genes or variants may be more straightforward to interpret but could miss relevant findings outside the tested regions.

Diagnostic Genetic Testing

Diagnostic testing is performed when you have signs or symptoms suggesting a genetic condition. For example, if you develop cancer at an unusually young age, diagnostic testing might be ordered to determine if an inherited genetic mutation contributed to your cancer. Similarly, children with developmental delays or unusual physical features may undergo diagnostic genetic testing to identify underlying genetic causes. A positive diagnostic test result can confirm a diagnosis, guide treatment decisions, and inform family members about their potential risks.

Predictive and Presymptomatic Testing

Predictive testing identifies genetic variants associated with conditions that may develop in the future. This type of testing is particularly relevant for conditions like Huntington's disease, where a specific genetic mutation virtually guarantees disease development, or BRCA1/BRCA2 testing, where mutations significantly increase breast and ovarian cancer risk but don't guarantee disease. The decision to pursue predictive testing is deeply personal, as learning about future disease risk can have profound psychological and practical implications.

Carrier Testing

Carrier testing determines whether you carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. Carriers typically don't have symptoms themselves but can pass the mutation to their children. If both parents are carriers of the same recessive condition (like cystic fibrosis or sickle cell disease), each pregnancy has a 25% chance of resulting in an affected child. Carrier testing is often offered before or during pregnancy to help couples understand their reproductive risks.

Prenatal and Preimplantation Testing

Prenatal genetic testing examines fetal DNA during pregnancy to detect chromosomal abnormalities or inherited conditions. Non-invasive prenatal testing (NIPT) analyzes cell-free fetal DNA circulating in the mother's blood, while amniocentesis and chorionic villus sampling provide fetal cells for more detailed analysis. Preimplantation genetic testing examines embryos created through in vitro fertilization before transfer to the uterus, allowing couples to select embryos without specific genetic conditions.

Pharmacogenomic Testing

Pharmacogenomic testing examines genetic variants that affect how your body processes medications. These tests can predict whether you'll respond well to certain drugs, experience adverse effects, or need dose adjustments. For example, variants in genes encoding drug-metabolizing enzymes can make you a "poor metabolizer" (drugs stay active longer, increasing side effect risk) or "ultra-rapid metabolizer" (drugs clear too quickly, reducing effectiveness). This information helps physicians personalize medication choices and dosing.

Who Should Consider Genetic Testing?

Genetic testing may be recommended if you have a personal or family history of certain conditions (cancer, heart disease, neurological disorders), belong to ethnic groups with higher risk for specific genetic conditions, are planning a pregnancy, have symptoms suggesting a genetic disorder, or are considering treatments that depend on genetic markers. A healthcare provider can help determine if testing is appropriate for your situation and which tests would provide the most useful information.

Not everyone needs genetic testing, and the decision to test should be based on careful consideration of your individual circumstances. Genetic testing is most valuable when results will inform meaningful health decisions - whether that means initiating enhanced screening, making lifestyle changes, considering preventive interventions, or simply gaining peace of mind. Testing without clear potential benefits may create unnecessary anxiety or provide information you're not prepared to act upon.

The field of genetic medicine is evolving rapidly, and recommendations for who should be tested continue to expand as we learn more about genetic contributions to disease. What was once considered testing only for rare genetic disorders now includes screening for relatively common conditions that can be prevented or managed when identified early. Understanding your genetic risks early in life provides the greatest opportunity for prevention and early intervention.

Family History Indicators

A strong family history of certain conditions is one of the most important indicators for genetic testing. Warning signs that suggest a possible hereditary condition include: multiple family members with the same type of cancer, cancer diagnosed at unusually young ages (before 50), individuals with multiple primary cancers, rare cancers or bilateral cancers (affecting paired organs like both breasts), family members with heart disease or sudden cardiac death before age 50, and neurological conditions affecting multiple generations.

When evaluating family history, it's important to consider both sides of your family and to gather detailed information about relatives' diagnoses, ages at diagnosis, and causes of death. Some families have incomplete information about medical history, particularly for older generations or estranged relatives. In these cases, genetic counselors can help assess risk based on available information and may recommend testing even with incomplete family data.

Ethnic Background Considerations

Certain genetic conditions are more common in specific ethnic groups due to founder effects (when small populations carry specific genetic variants) or other population genetics factors. For example, individuals of Ashkenazi Jewish descent have higher rates of BRCA1/BRCA2 mutations and Tay-Sachs disease. People of African descent have higher rates of sickle cell trait. Mediterranean and Southeast Asian populations have higher rates of thalassemia. Understanding your ethnic background can help guide appropriate screening recommendations.

Pre-Pregnancy and Prenatal Situations

Genetic testing is often offered to individuals or couples planning pregnancy. Expanded carrier screening can test for dozens to hundreds of recessive conditions simultaneously, identifying carriers who might have affected children. This information allows couples to make informed reproductive decisions, which might include natural conception with awareness of risks, preimplantation genetic testing with IVF, use of donor gametes, adoption, or deciding not to have biological children. The American College of Obstetricians and Gynecologists recommends offering carrier screening to all pregnant women regardless of ethnicity.

How Is Genetic Testing Performed?

The genetic testing process involves several steps: an initial consultation to discuss your history and determine appropriate tests, informed consent documentation, sample collection (usually blood or saliva), laboratory analysis using specialized techniques, result interpretation by genetic specialists, and a follow-up consultation to discuss findings. The entire process typically takes 2-12 weeks from sample collection to results, depending on the complexity of the test ordered.

Understanding what to expect during genetic testing can help reduce anxiety and ensure you're prepared for each step of the process. While the laboratory work happens behind the scenes, the consultations before and after testing are crucial for ensuring you understand what you're being tested for, what results might mean, and how to use the information to benefit your health. Most people find that working with a genetic counselor significantly enhances their testing experience.

The testing process has become increasingly streamlined over the years, with many tests now available through simple blood draws or saliva samples that can be collected at local laboratories or even at home. However, the interpretation of results remains complex and requires expertise in medical genetics. Self-ordering tests without medical guidance may lead to misunderstanding of results or inappropriate medical decisions.

Pre-Test Consultation and Counseling

Before genetic testing, you'll typically meet with a genetic counselor or other healthcare provider specializing in genetics. During this consultation, the counselor will take a detailed personal and family medical history, often creating a family tree (pedigree) that visualizes health conditions across multiple generations. This information helps assess your risk for hereditary conditions and determine which genetic tests are most appropriate.

The pre-test consultation also covers the benefits, limitations, and potential implications of testing. You'll discuss what the test can and cannot detect, the possibility of uncertain results, how results might affect your medical care, potential psychological impacts, implications for family members, and privacy considerations. This discussion ensures you can make an informed decision about whether to proceed with testing.

Sample Collection Methods

Most genetic tests require a biological sample from which DNA can be extracted. Blood samples are the most common, typically involving a standard blood draw from a vein in your arm. Saliva samples have become increasingly popular due to their convenience - you simply spit into a collection tube. Some tests may use cheek swabs (buccal swabs) that collect cells from inside your mouth. For certain specialized tests, tissue samples or other specimen types may be needed.

Sample collection is generally quick and straightforward. Blood draws take only a few minutes and can be performed at most laboratories or medical facilities. Saliva collection kits can often be completed at home and mailed to the laboratory. There's usually no special preparation required, though some tests may have specific instructions to follow.

Laboratory Analysis

Once your sample reaches the laboratory, technicians extract DNA from the cells and prepare it for analysis. The specific analytical techniques depend on the type of test ordered. DNA sequencing reads the actual sequence of bases in targeted genes or across the entire genome. Microarray analysis compares your DNA to reference samples to detect known variants or chromosomal abnormalities. PCR-based methods amplify and analyze specific DNA regions.

Clinical genetic testing laboratories must meet rigorous quality standards. In the United States, laboratories performing clinical genetic tests must be certified under the Clinical Laboratory Improvement Amendments (CLIA) and may also seek accreditation from organizations like the College of American Pathologists. These standards ensure accurate, reliable results through validated methods, quality controls, and proficiency testing.

Receiving and Understanding Results

Results are typically delivered through a follow-up appointment with your healthcare provider or genetic counselor. This format allows for personalized explanation of what your results mean and their implications for your health. Written reports are also provided for your records and to share with other healthcare providers. Never should you receive significant genetic test results through an automated system without the opportunity for professional counseling.

What Do Genetic Test Results Mean?

Genetic test results typically fall into three categories: positive (a pathogenic variant was found), negative (no pathogenic variants detected), or variant of uncertain significance (VUS - a change was found but its clinical meaning is unclear). A positive result doesn't mean you will definitely develop a condition - it indicates increased risk. A negative result doesn't guarantee you won't develop the condition, as other factors also contribute to disease. Genetic counselors help interpret results in context of your overall health picture.

Interpreting genetic test results requires understanding the nuances of genetic risk and the limitations of current scientific knowledge. Unlike a pregnancy test that gives a clear yes or no answer, genetic tests often reveal probabilistic information that must be considered alongside other factors. The same genetic variant may have different implications for different individuals depending on their personal and family history, lifestyle factors, and other genetic variations.

It's also important to understand that our knowledge of genetics continues to evolve. Variants that are classified as uncertain significance today may be reclassified as pathogenic or benign in the future as more research is conducted. Some testing laboratories offer programs that notify patients and providers when variant classifications change, ensuring that results remain up-to-date.

Positive Results

A positive genetic test result means that a disease-causing (pathogenic) variant was identified in the gene(s) tested. This finding confirms that you carry a genetic change associated with increased risk for a particular condition. The implications of a positive result depend heavily on which gene is affected and the nature of the variant. Some variants confer very high risk (like certain BRCA1 mutations that increase breast cancer risk to 70-80%), while others confer more modest risk increases.

Receiving a positive result can be emotionally challenging, but it also provides valuable information for protecting your health. With knowledge of your genetic risk, you can work with your healthcare team to implement appropriate surveillance, prevention, and treatment strategies. For many hereditary conditions, early detection and intervention dramatically improve outcomes. Additionally, knowing your genetic status allows family members to make informed decisions about their own testing.

Negative Results

A negative result means no pathogenic variants were detected in the genes analyzed. However, a negative result doesn't completely eliminate genetic risk. Testing may not have included all relevant genes, the causative variant might be in a gene not yet associated with the condition, or technical limitations might prevent detection of certain variant types. Additionally, even without genetic predisposition, you still have the general population's background risk for the condition.

The interpretation of negative results depends on your pre-test probability of carrying a pathogenic variant. If you have a strong family history and test negative, this may indicate that a hereditary syndrome is less likely, but it doesn't rule out other genetic or non-genetic factors. If a pathogenic variant has been identified in a family member and you test negative for that specific variant, this is typically a "true negative" that significantly reduces your risk.

Variants of Uncertain Significance (VUS)

One of the most challenging result categories is the variant of uncertain significance (VUS). This means a genetic change was detected, but current scientific evidence is insufficient to determine whether it causes disease. VUS results can be frustrating because they don't provide clear guidance for medical management. Over time, as more data accumulates, many VUS are reclassified as either benign (not disease-causing) or pathogenic (disease-causing).

When you receive a VUS result, your medical management typically continues based on your personal and family history rather than the genetic finding. It's important not to make significant medical decisions based solely on a VUS. Genetic counselors may recommend periodic reassessment as variant classification databases are updated, and some laboratories proactively notify patients when VUS are reclassified.

What Happens If Testing Shows Increased Disease Risk?

If genetic testing reveals an increased disease risk, you'll work with healthcare providers to develop a personalized management plan. Options may include enhanced surveillance (more frequent screening tests starting at younger ages), risk-reducing medications, lifestyle modifications, and in some cases, preventive surgery. The specific recommendations depend on which genetic variant is found and the conditions it's associated with. Many hereditary conditions can be effectively managed or even prevented when identified before symptoms develop.

Learning that you carry a genetic variant associated with increased disease risk can initially feel overwhelming. However, this knowledge represents an opportunity rather than a predetermined fate. Unlike individuals who develop diseases without warning, you have the advantage of knowing your risk in advance and can take proactive steps to protect your health. Many people who undergo genetic testing describe the experience as empowering, giving them control over their health journey.

The management strategies available for genetic risk continue to expand. Research into targeted therapies, improved screening technologies, and novel prevention approaches means that the options available today are better than ever before, and future advances will provide even more tools. Being part of a genetic high-risk population may also provide access to clinical trials testing new prevention and treatment strategies.

Enhanced Surveillance Programs

For many hereditary conditions, the primary intervention is enhanced surveillance - more frequent or specialized screening tests starting at younger ages than recommended for the general population. For example, individuals with Lynch syndrome (hereditary colorectal cancer syndrome) typically begin colonoscopy screening in their 20s instead of 45, with exams every 1-2 years rather than every 10 years. BRCA mutation carriers may have annual breast MRIs in addition to mammograms, starting in their mid-20s.

Enhanced surveillance aims to detect conditions at their earliest, most treatable stages. Many cancers, for example, have dramatically better survival rates when caught early. Regular screening creates ongoing opportunities to identify problems before they become serious. The specific surveillance protocol depends on your genetic variant and associated risks, and guidelines are regularly updated as new evidence emerges.

Risk-Reducing Medications

For some genetic conditions, medications can significantly reduce disease risk. Tamoxifen and raloxifene can reduce breast cancer risk in high-risk women. Aspirin may reduce colorectal cancer risk in Lynch syndrome. Statins and other medications can manage cardiovascular risk in familial hypercholesterolemia. The decision to use risk-reducing medications involves weighing the potential benefits against side effects and costs, with guidance from your healthcare team.

Lifestyle Modifications

While you cannot change your genes, lifestyle factors significantly influence whether genetic predispositions manifest as disease. Maintaining a healthy weight, regular physical activity, avoiding tobacco, limiting alcohol, eating a balanced diet, and managing stress all contribute to reducing disease risk. For some genetic conditions, specific lifestyle modifications are particularly important - for example, avoiding UV exposure with certain inherited skin cancer predispositions.

Preventive Surgery

In some cases, preventive (prophylactic) surgery may be recommended to reduce disease risk. Women with BRCA1/BRCA2 mutations may consider risk-reducing mastectomy (breast removal) or oophorectomy (ovarian removal), which can reduce cancer risk by 90% or more. Individuals with high-risk colon cancer syndromes may consider prophylactic colectomy. These are significant decisions made after careful consideration of risks, benefits, timing, and personal values.

Why Is Genetic Counseling Important?

Genetic counseling is an essential component of genetic testing, providing education about hereditary conditions, guidance in deciding whether to pursue testing, help interpreting results, emotional support throughout the process, and assistance with family communication. Genetic counselors are healthcare professionals with specialized training in medical genetics and counseling skills who serve as guides through the complex landscape of genetic information and its implications.

The decision to undergo genetic testing and the process of living with genetic information involve far more than laboratory results. Genetic counseling addresses the full spectrum of considerations - scientific, medical, emotional, ethical, and practical - that accompany genetic testing. Studies consistently show that patients who receive genetic counseling have better understanding of their results, make more informed decisions, and experience less psychological distress than those who test without counseling support.

Genetic counselors bring unique expertise that complements the roles of other healthcare providers. While your physician may order a genetic test and interpret results in the context of your overall health, genetic counselors provide in-depth education about inheritance patterns, risk assessment, testing options, and psychological implications. They also have extensive experience helping families communicate about genetic information and navigate the complex emotions that can arise.

Pre-Test Counseling Services

Before genetic testing, counselors help you understand what testing involves and make an informed decision about whether to proceed. They gather detailed family history information to assess your risk and determine appropriate tests. They explain what the test can and cannot detect, possible result categories, implications of different outcomes, and alternatives to testing. This comprehensive preparation ensures you enter the testing process with realistic expectations and full understanding of what you're undertaking.

Post-Test Support

After testing, counselors help you understand your results and what they mean for your health. They translate complex genetic and medical terminology into understandable language, place results in context of your personal and family history, and discuss the range of management options available. For positive results, they provide emotional support and help you process the information at your own pace. They also assist with developing plans to communicate with family members who may be affected.

Emotional and Psychological Support

Genetic testing can evoke strong emotions - anxiety about results, relief at negative findings, fear and grief with positive results, uncertainty with VUS. Genetic counselors are trained to recognize and address these emotional responses. They provide supportive counseling, normalize common reactions, and can refer you to mental health specialists if needed. The relationship with your genetic counselor often continues over time as you navigate life with genetic information.

Finding Genetic Counseling Services

Genetic counseling services are available through hospitals, academic medical centers, specialty clinics, and increasingly through telehealth platforms. Your primary care provider can refer you, or you can search for counselors through professional organizations like the National Society of Genetic Counselors (NSGC). Many insurance plans cover genetic counseling, particularly when testing is medically indicated. If cost is a concern, discuss options with the counseling service, as many offer sliding scale fees or payment plans.

Are Home Genetic Testing Kits Reliable?

Direct-to-consumer (DTC) genetic tests, while increasingly popular, have important limitations compared to clinical tests. DTC tests typically examine fewer genetic variants, may miss disease-causing mutations, don't include professional genetic counseling, and results can be misinterpreted. While some DTC tests have FDA authorization for specific health-related reports, they should not replace clinical testing when medical decisions are needed. DTC ancestry tests can provide interesting insights but raise privacy considerations.

The availability of home genetic testing kits has democratized access to genetic information, allowing anyone to learn about their ancestry and certain health traits by mailing a saliva sample to a testing company. These services have introduced millions of people to genetic concepts and sparked interest in personalized health. However, the convenience and affordability of DTC testing come with trade-offs in comprehensiveness and clinical utility that are important to understand.

DTC testing companies continue to evolve their offerings, with some now providing health-related reports alongside ancestry information. The regulatory landscape for these tests also continues to develop, with the FDA increasingly involved in ensuring accuracy of health claims. Despite improvements, significant differences remain between what DTC tests provide and what clinical genetic testing offers.

Limitations of Consumer Tests

Most DTC tests examine a limited set of genetic variants - typically common variants that have been well-studied in research populations. This means they may miss rare but important disease-causing mutations. For example, a DTC test might check for three specific BRCA mutations common in Ashkenazi Jewish populations but miss the thousands of other BRCA mutations that exist. Someone could receive a "negative" DTC result while actually carrying a clinically significant BRCA mutation not included in the test.

DTC tests also lack the clinical context that makes genetic information medically actionable. Without detailed family history assessment, appropriate test selection, and professional result interpretation, DTC information may be misleading. Individuals have made inappropriate medical decisions based on DTC results - either falsely reassured by negative results or unnecessarily alarmed by findings that require nuanced interpretation.

When DTC Testing May Be Appropriate

DTC testing can be appropriate for exploring ancestry, learning about non-medical traits (like taste preferences or caffeine metabolism), or gaining a general sense of genetic health predispositions as an educational exercise. For those with no significant family history of genetic disease who are simply curious about their genetics, DTC tests can satisfy that curiosity at relatively low cost. However, anyone who receives concerning health-related results from a DTC test should seek clinical confirmation and genetic counseling before making medical decisions.

Privacy Considerations

When you submit DNA to a DTC testing company, you're sharing your most personal biological information with a private company. Before testing, carefully review the company's privacy policies regarding data storage, sharing with third parties, law enforcement requests, and research use. Consider whether you're comfortable with potential uses of your genetic data and whether you want to opt out of research participation or relative matching features. Once genetic data exists in company databases, it may be difficult to completely remove.

How Can You Cope with Genetic Test Results?

Receiving genetic test results, especially positive results indicating increased disease risk, can trigger a range of emotional responses including anxiety, fear, guilt, relief, and uncertainty. These reactions are normal and valid. Coping strategies include allowing yourself time to process the information, seeking support from genetic counselors and mental health professionals, connecting with others facing similar situations through support groups, and focusing on actionable steps you can take to protect your health.

The emotional impact of genetic testing extends well beyond the moment results are received. Processing genetic information is often a journey that unfolds over time, with different concerns arising at different life stages. What matters most during pregnancy may differ from concerns in mid-life or when children reach testing age. Acknowledging that your relationship with genetic information will evolve helps create realistic expectations and space for ongoing adjustment.

Everyone processes genetic information differently, and there's no single "correct" way to respond. Some people prefer to research extensively and take immediate action, while others need time to absorb information before planning next steps. Some find comfort in sharing with family and friends, while others prefer privacy. Genetic counselors and mental health professionals experienced in genetic issues can help you find approaches that work for your individual coping style.

Common Emotional Responses

After receiving positive genetic test results, people commonly experience a mix of emotions. Fear and anxiety about developing disease are nearly universal. Guilt may arise - about potentially passing genes to children, about being the "source" of a family's genetic burden, or about remaining healthy when others are affected. Some feel relief at having an explanation for family history or confirmation of suspicions. Others describe feeling fundamentally changed in their sense of identity or mortality. All of these responses are normal parts of processing significant genetic information.

Coping Strategies

Effective coping often involves both emotional processing and practical action. Allow yourself to experience and express your emotions rather than suppressing them. Talk to trusted friends, family members, or mental health professionals. Join support groups where you can connect with others who understand what you're experiencing. At the same time, focus on what you can control - learning about your condition, following recommended screening, making healthy lifestyle choices, and building a strong healthcare team.

Impact on Family Relationships

Genetic information inherently involves family, which can create both challenges and opportunities. You may struggle with decisions about whether, when, and how to share information with relatives. Family members may have different views about testing and may not be receptive to information about genetic risks. Some families draw closer through shared genetic experiences, while others face tension and conflict. Genetic counselors can help you navigate these family dynamics and develop communication strategies.