Let’s Chat: Proactive Genetics

A new era of empowerment in women’s health is here with top-of-the-line genetic tests and the promise of lasting health through the science of epigenetics. Recognizing every woman’s individuality and how she nurtures her well-being is crucial. Every individual is different! Luckily, genetic testing can help guide healthcare decisions by taking a deep dive into your family history and DNA. In our latest Let’s Chat, Dr. Diana Bitner and Dr. Mili Thakur discuss medical-grade genetic tests vs. over-the-counter kits, the power of epigenetics, and personalized prevention options to empower you to take control of your well-being.

What Is Genetic Testing?

Genetic testing has become increasingly popular in recent years. It is a specific form of testing that looks for mutations or variations in DNA. It offers individuals insights into their ancestry, health predispositions, and potential disease risks. While direct-to-consumer tests like 23andMe have made genetic testing more accessible than ever, there’s another category of tests specifically designed to address women’s health concerns with medical-grade precision.

Direct-to-Consumer Tests vs Medical-Grade Genetic Testing

Direct-to-consumer tests, such as those offered by companies like or 23andMe, allow individuals to order genetic tests online, collect their DNA samples at home, and receive their results without involving a healthcare provider. The results from these tests are often surface-level and cannot provide insights that could guide prevention or treatment options. On the other hand, medical-grade tests are typically ordered by healthcare professionals and are conducted in clinical settings, adhering to rigorous standards and regulations set by medical authorities. The results from medical-grade testing are more comprehensive and clinically applicable, guiding your healthcare team to make recommendations about health plans.

Medical-Grade Genetic Tests

We recommend several tests to help women understand their body and health better. These include:

Preconception Carrier Screening

For individuals who are on a family-building journey, Preconception Carrier Screenings identify individuals who carry genetic mutations associated with certain inherited conditions. Individuals commonly carry genetic mutations without being affected by them. Moreover, if both partners are carriers of a specific condition, there is a 1 in 4 likelihood that their children could be affected. By screening both partners before conception, couples can assess their risk of passing on genetic disorders to their children. These tests can screen for a wide range of conditions, including cystic fibrosis, Tay-Sachs disease, sickle cell anemia, and many others. Understanding carrier status allows couples to make informed decisions about family planning, explore reproductive options, or seek genetic counseling if needed.

Inherited Cancer Panels

1 in 4 people are at risk of developing cancer, and 10% of these people have an inherited cancer risk. Inherited Cancer Panels are genetic tests that assess an individual’s risk of developing hereditary forms of cancer. These tests analyze specific genes associated with increased cancer susceptibility, such as BRCA1 and BRCA2 for breast and ovarian cancer or Lynch syndrome for colorectal and uterine cancers. Identifying genetic mutations linked to cancer predisposition can help individuals and their healthcare providers develop personalized screening protocols and preventive strategies or even consider risk-reducing surgeries to minimize cancer risk.

Recurrent Pregnancy Loss Genetic Tests

60% of the time, something is wrong genetically in the embryo, such as a missing chromosome, and this causes pregnancy loss. Recurrent pregnancy loss (RPL) genetic tests investigate potential genetic factors contributing to recurrent miscarriages. These tests may include karyotyping to assess chromosomal abnormalities in both parents and advanced genetic testing to identify specific genetic mutations associated with recurrent pregnancy loss, such as chromosomal translocations or single-gene disorders. Understanding the underlying genetic factors behind RPL can guide fertility treatments, inform reproductive decisions, and offer hope to individuals and couples seeking to build their families.

Points To Consider When Reviewing Genetic Testing Options

Accuracy and Reliability

While direct-to-consumer tests can provide valuable insights into ancestry and certain genetic traits, they may sometimes offer a different level of accuracy and reliability than medical-grade tests. Medical-grade tests undergo thorough validation and are conducted in certified laboratories. Validation and certification ensure accuracy in diagnosing conditions relevant to women’s health, such as hereditary cancers or genetic predispositions to reproductive disorders.

Comprehensiveness of Results

Medical-grade tests for women’s health often cover a broader spectrum of genetic markers and conditions specifically relevant to female biology. These tests may assess risks for conditions like breast cancer, ovarian cancer, or genetic disorders affecting reproductive health. They offer women comprehensive information that can guide healthcare decisions.

Clinical Interpretation and Counseling

One of the critical distinctions between direct-to-consumer tests and medical-grade tests is the level of clinical interpretation and counseling provided. Medical-grade tests are typically accompanied by genetic counseling from healthcare professionals. A healthcare provider can help individuals understand their results, interpret implications for their health, and make informed decisions about medical management or preventive measures. This personalized guidance is crucial, especially when dealing with complex health issues.

Regulatory Oversight and Privacy Concerns

Medical-grade tests are subject to stringent regulatory oversight, ensuring compliance with quality standards and protecting patient privacy through HIPAA. In contrast, direct-to-consumer genetic testing companies may have different privacy policies. Their levels of transparency regarding the use of genetic data have raised data security concerns about the potential misuse of personal information.

Insurance Concerns

Typically, insurance companies cover the cost of genetic testing, but it is always a good idea to check with your insurer first. Health insurance and employers cannot deny coverage or a job based on the results of cancer risk assessments. Unfortunately, life insurance is not regulated in the same way. Life insurance and disability insurance can be denied based on genetic testing. This is why setting up both coverages before getting tested is important.

Galleri® Test

The Galleri® test requires blood to be drawn and sent to a central lab. It is then analyzed to determine if cell-free DNA is present, which could signal the presence of cancer. Once one of the signals is found, the test determines which region of the body the signal came from. The test is more sensitive for some cancers than others. For example, it is not as sensitive for breast cancer and prostate cancer because these cancers stay covered up longer. However, the test can detect pancreatic cancer early because signs show in the blood long before symptoms begin.

Dr. Bitner decided to take the Galleri® test for herself this year. She was adopted, which meant she did not know a lot about her family’s health history. With an upcoming wedding and vacations with her children, Dr. Bitner wanted to stay healthy and participate in every life event. She scheduled a time to get her blood drawn and recently received her results. Dr. Bitner’s tests came back negative (not likely to have hard-to-detect cancers), and she plans to continue regular screenings in the future. This knowledge helped her to feel more comfortable and empowered to continue healthy lifestyle habits.

Prevention Is Possible! 

Remember, when considering genetic testing, it’s essential to weigh the pros and cons. You should also seek guidance from healthcare professionals to make fully informed decisions that prioritize your well-being. Prevention is possible!

About Dr. Mili Thakur

Dr. Mili Thakur is a triple board-certified expert in reproductive endocrinology/infertility, medical genetics, and obstetrics/gynecology. She has over twenty years of experience specializing in proactive genetics. Dr. Thakur offers comprehensive consultation and testing for individuals on a family-building journey. Her expertise focuses on preventing genetic diseases in the offspring through in vitro fertilization and preimplantation genetic testing. Dr. Thakur founded Genome Ally to make genetics accessible and affordable to everyone.

About Genome Ally

Genome Ally, a Grand Rapids-based telehealth genetics consultation practice, focuses on women and individuals on a family-building journey. They are guided on the principles of proactive genetics, easy and comfortable testing, and being your ally. Genome Ally empowers individuals to take charge of their genetic health and improve their overall well-being. Learn more by visiting their website.