2025 Genetic Testing for Ovarian Cancer: Costs, Advances & Expert Insights

Genetic testing plays a vital role in identifying individuals at increased risk for ovarian cancer by detecting inherited gene mutations. Since the discovery of BRCA1 and BRCA2 genes, advances in genetic research have expanded the scope of testing, enabling more precise prevention and treatment strategies.

Dr. Kristin Zorn, a leading gynecologic oncologist, shares her expert perspective on the current landscape of ovarian cancer genetic testing and its implications for patients and their families.

Who Should Consider Genetic Testing for Ovarian Cancer Risk?

Historically, personal and family cancer histories guided genetic testing decisions. However, research shows that many individuals with hereditary cancer syndromes like hereditary breast and ovarian cancer syndrome (King syndrome) or Lynch syndrome lack classic family history patterns.

Today, any woman diagnosed with ovarian cancer is recommended to undergo genetic testing to better understand her risk profile.

The Essential Role of Genetic Counselors

Genetic counselors—professionals with specialized master’s degrees—are experts in interpreting genetic test results and guiding patients through complex information.

With the surge of direct-to-consumer and clinical genetic tests, their expertise is crucial to accurately understand results and implications for both patients and their families.

Expanded Gene Panels: Beyond BRCA1 and BRCA2

Initially focused on BRCA1 and BRCA2, genetic testing panels now include up to 20 or more genes associated with ovarian and breast cancer risks. Some panels test as many as 80 genes to capture a comprehensive risk profile.

While larger panels increase the chance of detecting relevant mutations, they also raise the likelihood of uncertain results called variants of uncertain significance (VUS), which do not directly guide medical decisions.

Actionable Steps Following Genetic Testing

Genetic insights empower earlier diagnosis through enhanced screening and influence personalized treatment plans, including the use of PARP inhibitors for patients with BRCA mutations.

Preventive measures may include medications like birth control pills, which can reduce ovarian and endometrial cancer risks by over 50%, or risk-reducing surgeries tailored to the individual’s genetic profile.

How to Access Genetic Testing in 2024

Genetic testing is increasingly accessible through healthcare providers such as primary care doctors, OB-GYNs, and specialists, as well as reputable direct-to-consumer companies like Invitae and Color Genomics.

Costs have significantly decreased, with comprehensive panels available for $250 or less, compared to thousands of dollars previously.

However, professional guidance remains essential to interpret results and inform medical decisions.

Genetic Testing and Insurance Considerations

Federal laws like the Genetic Information Nondiscrimination Act (GINA) protect against discrimination in health insurance and employment based on genetic information.

Nonetheless, some policies, including life, disability, and long-term care insurance, may consider genetic test results, so informed decision-making is critical.

Updating Past Genetic Tests and Understanding Tumor Testing

Advancements in genetic testing technology mean previously negative results may warrant retesting with modern methods for more accurate detection.

It’s also important to distinguish between germline genetic testing, which assesses inherited mutations, and somatic tumor testing, which analyzes mutations present only in tumor cells.

Advocating for Genetic Testing: Bridging Disparities

Disparities in access persist, especially among minority, rural, and male populations. Being proactive and discussing genetic testing with healthcare providers is crucial.

Understanding genetic risk not only impacts individual care but also informs family members’ health decisions, underscoring the value of testing for ovarian cancer patients.

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