5 Things OB-GYNs Need to Know About Hereditary Cancer Testing

As an OB-GYN, you're uniquely positioned to identify patients who may benefit from hereditary cancer testing. With approximately 5-10% of breast and ovarian cancers linked to inherited gene mutations, understanding how to incorporate genetic screening into your practice can make a life-saving difference for your patients and their families. Recognizing the signs that could indicate an increased risk for hereditary cancer allows you to provide more comprehensive care and potentially prevent cancer before it develops.

1. Family History Conversations Are Critical Screening Tools

Taking the time to ask detailed questions about your patients' family medical history of cancer can help identify those who would benefit most from genetic testing. Women with family histories of breast and ovarian cancers are significantly more likely to test positive for cancer-predisposing genetic mutations.

Consider implementing a standardized family history questionnaire that includes:

• Cancer diagnoses among first and second-degree relatives (parents, siblings, children, grandparents, aunts, uncles)
• Ages at diagnosis (especially cancers diagnosed before age 50)
• Multiple cancer diagnoses in a single individual
• Rare cancers or male breast cancer
• Ashkenazi Jewish ancestry, which is associated with higher rates of BRCA1 and BRCA2 gene mutations

These conversations don't need to be time-consuming – even a brief, targeted discussion can reveal essential risk factors that might go unnoticed. According to the National Comprehensive Cancer Network (NCCN) guidelines, individuals with specific family history patterns should be referred for genetic risk assessment, which may include genetic testing.

Remember that family history is dynamic – a patient's risk profile may change over time as new cancer diagnoses emerge within their family. Updating family history information annually allows you to identify changing risk patterns that could warrant genetic evaluation.

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2. Genetic Test Results Can Inform Life-Saving Interventions

If genetic testing indicates a mutation that increases cancer risk, enhanced surveillance and sometimes surgical options become available. These results empower you and your patient to make informed prevention and early detection decisions.

For carriers of BRCA1 and BRCA2 mutations, risk management options may include:

• Early breast screening
• More frequent clinical breast exams
• Alternating mammograms and MRIs every six months
• Risk-reducing medications such as tamoxifen
• Preventative surgeries such as prophylactic mastectomy or salpingo-oophorectomy, and in some cases salpingectomy followed by oophorectomy after menopause
• A discussion about family planning and reproductive options moving forward

For Lynch syndrome carriers (mutations in MLH1, MSH2, MSH6, PMS2, or EPCAM genes), interventions might include:

• More frequent colonoscopies 
• Colonoscopies beginning at younger ages 
• Consideration of prophylactic hysterectomy and bilateral salpingo-oophorectomy after childbearing is complete.

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3. Modern Genetic Testing Is More Accessible Than Ever

Technology advancements have made hereditary cancer screening more affordable and convenient. What once cost thousands of dollars and required extensive insurance approval processes can now be accessed for a fraction of the cost, with many tests covered by insurance.

At-home testing options like those offered by jscreen provide a simple saliva sample collection process that patients can complete without leaving home. This approach eliminates barriers such as travel time, scheduling difficulties, and privacy concerns.  

jscreen offers comprehensive testing that screens for mutations in multiple genes associated with increased cancer risk, including BRCA1, BRCA2, and those linked to various other hereditary cancer syndromes. 

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4. Genetic Counseling Is an Essential Component of the Testing Process

Interpreting genetic test results requires specialized knowledge beyond simple positive or negative findings.

Patients benefit enormously from having access to a genetic counselor in order to better understand:

• What specific genetic variations mean for their cancer risk
• How their test results compare to the general population risk
• How results might impact family members who share the same genetic background
• What medical management options are recommended based on their results
• How to navigate the emotional aspects of receiving genetic information
• The difference between an accurate negative result, an uninformative negative result, and a variant of uncertain significance

jscreen has a staff of certified genetic counselors who guide patients through the entire testing process. These professionals are trained to explain complex genetic concepts in understandable terms and help patients process the emotional impact of their results.

As their healthcare provider, you don't need to become a genetics expert – jscreen's counselors will partner with you to ensure your patients receive comprehensive care and appropriate follow-up. 

The value of genetic counseling cannot be overstated. Even negative test results can be complex – they may provide reassurance, but they don't necessarily eliminate all cancer risk, mainly if there's a strong family history without an identified mutation. Genetic counselors help patients understand these nuances.

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5. The Testing Process Can Be Seamlessly Integrated Into Your Practice

Incorporating hereditary cancer testing into your practice doesn't require extensive infrastructure changes or additional staff training. 

jscreen offers a streamlined process that handles everything from A to Z:

1. You identify patients who meet testing criteria based on personal or family history
2. Refer them to jscreen for testing with a simple referral form
3. jscreen manages test kit delivery, sample collection, laboratory analysis, and genetic counseling
4. Comprehensive results and management recommendations are shared with both the patient and your practice

This approach allows you to provide state-of-the-art genetic services without requiring additional staff or expertise within your practice. The jscreen team is an extension of your care team, providing specialized knowledge while keeping you informed and involved in your patient's care plan. 

Many practices find it helpful to designate a staff member to become familiar with the referral process and can help identify appropriate candidates for testing. This person doesn't need specialized genetics training but can serve as the liaison between your practice and the testing service.

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The Impact of Testing Goes Beyond the Individual

When a patient is identified with a hereditary cancer syndrome, the benefits extend far beyond that individual. Each positive result allows cascade testing among family members who may share the same genetic mutation. This approach can identify at-risk individuals before they develop cancer, potentially saving multiple lives from a single initial test.

Consider the case of a 45-year-old patient diagnosed with triple-negative breast cancer who tests positive for a BRCA1 mutation. This result informs her treatment decisions and alerts her siblings, children, and extended family members to their 50% risk of carrying the same mutation. Through cascade testing, you may identify multiple family members who can benefit from enhanced screening and risk-reduction strategies.

It is also important to note that The Genetic Information Nondiscrimination Act (GINA) provides important protections for your patients. It prohibits health insurance companies and employers from discriminating based on genetic information. This federal protection makes it safer for patients to pursue genetic testing without fear of insurance or employment consequences.

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Taking Action for Your Patients

As medical professionals, we have a unique opportunity to help patients understand and manage their inherited cancer risks. 

By integrating hereditary cancer testing into your practice, you can:

• Identify high-risk patients before cancer develops
• Provide personalized risk management strategies based on specific genetic findings
• Potentially prevent cancers through appropriate interventions
• Extend these benefits to your patients' family members through cascade testing
• Offer peace of mind to those who test negative for family mutations

Remember that genetic testing is not just about identifying risk – it's about empowering patients with knowledge that can lead to life-saving actions. By partnering with jscreen, you can offer your patients access to affordable, comprehensive genetic testing with expert guidance throughout the process, ensuring they have the information needed to make informed decisions about their health.

If you would like to access the benefits of jscreen for your patients, please email us at karen@jscreen.org and visit us online at jscreen.org for more information. 

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References:

1. National Cancer Institute. (2023). Genetic Testing for Inherited Cancer Susceptibility Syndromes. Retrieved from https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet

2. American College of Obstetricians and Gynecologists. (2019). Hereditary Cancer Syndromes and Risk Assessment. ACOG Committee Opinion No. 793. Obstetrics & Gynecology, 134(6), e143-e149.

3. National Comprehensive Cancer Network. (2024). Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. NCCN Clinical Practice Guidelines in Oncology.

4. Domchek, S. M., Friebel, T. M., Singer, C. F., Evans, D. G., Lynch, H. T., Isaacs, C., ... & Rebbeck, T. R. (2010). Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA, 304(9), 967-975.

5. American Society of Clinical Oncology. (2023). Cancer.Net. Hereditary Breast and Ovarian Cancer.