By Sarah Sharman, PhD 

DNA is the blueprint for our bodies’ development and function, providing instructions for everything from eye color to how our bodies fight disease. Analyzing your DNA through genetic testing can reveal fascinating details about your heritage, traits, and even your health predispositions. 

The world of genetic testing has exploded in recent years, offering exciting possibilities to learn more about ourselves. There are two main avenues for having your DNA tested: direct-to-consumer (DTC) tests and clinical genetic testing. While both analyze your DNA, they differ significantly in their purpose, process, and the implications of the test results. Let’s learn more about these two genetic testing options. 

Direct-to-consumer testing 

Originally launched to help you dig into your ancestry, direct-to-consumer genetic testing companies like 23andMe® and AncestryDNA® look at hundreds to thousands of small sections of your DNA to provide insights into ancestry, physical traits, and some health predispositions. These tests are available directly to consumers online or in stores, often involving a simple saliva sample collected at home.

Direct-to-consumer genetic tests have become increasingly popular due to their convenience and affordability. However, not all direct-to-consumer genetic tests return FDA-approved results to inform health predisposition and carrier status. Additionally, none of the results are FDA-approved for medical diagnosis. They have a limited focus on specific genes or diseases, so they could miss new or uncommon disease-causing genetic variants that could explain your symptoms. 

While at-home genetic tests can uncover interesting things about your ancestry and fun traits, they only offer a piece of the puzzle regarding your health. Many other things influence your risk of developing diseases, such as other genes, environment, lifestyle choices, and family history. A doctor or genetic counselor would discuss these factors during a consultation. However, in many cases, they are not addressed when using at-home genetic tests, which could lead to individuals misinterpreting their results or coming to incorrect conclusions due to missing important information.

Clinical Genetic Testing

Unlike direct-to-consumer tests, clinical genetic testing is overseen by a doctor, genetic counselor, or other healthcare provider. Before recommending a specific test, they will consider your family history, medical conditions, current symptoms, or other situations leading you to pursue genetic testing (i.e., carrier screening before starting a family). 

Clinical genetic testing is a more involved process than direct-to-consumer options. A healthcare professional collects a DNA sample through a cheek swab, saliva sample, or sometimes a blood draw. There are many different types of clinical genetic testing that vary in scope and technology, and a healthcare provider can determine the best testing strategy based on your symptoms or questions. 

A key advantage of clinical genetic testing is the involvement of a genetic counselor. This highly trained professional interprets your test results and explains their implications clearly and in a way that is specific and relevant to your needs and concerns. They can discuss potential risks associated with identified genetic variants and guide you toward informed medical decisions.

Clinical genetic tests are designed and validated for medical purposes. They target specific gene variants with established links to diseases, offering higher accuracy and reliability than direct-to-consumer options. Clinical genetic testing can identify an increased risk for certain diseases, even before symptoms appear. These results empower you and your doctor to take preventive measures, such as increased screenings or lifestyle modifications. 

Choosing the right test for you 

There’s no single “right” test for everyone. By discussing your needs and goals with a healthcare professional, you can decide whether direct-to-consumer or clinical genetic testing is the best path for you.

Are you primarily interested in uncovering your ancestry or learning about fun, non-health-related traits? Direct-to-consumer testing might be a good starting point. However, clinical genetic testing is likely right for you if you have concerns about potential health risks or a family history of a specific condition. 

Consulting with a healthcare professional is crucial for informed decision-making. They can assess your family history and medical conditions to determine if a genetic test is appropriate and, if so, which type might be most beneficial. 

Genetic counselors at the Smith Family Clinic for Genomic Medicine, LLC, can help you on your journey towards better health and healthcare, determine which tests are most appropriate for you, and give you actionable insights based on your results. Contact the Smith Family Clinic today to learn more!