Bridging the Gap in Genetic Counseling: Why Patients Need Comprehensive Support
I’ve been thinking lately about genetic counselling in the fertility space - lots seem to be happening for IVF companies and some are even in the news for misleading their patients. I’ve tried to reach out several times to local providers to help them see the benefit of a service that Genomic Health is able to offer them - independant, certified genetic counsellor with 25 years experience, clinical geneticists at hand to see patients with increase chance results on screening, but all seem reluctant to partner with an independent private genetic service. Why is that? In recent years, advancements in genetic testing have offered patients powerful insights into their health, particularly in fields like reproductive medicine and IVF. However, a gap in genetic counselling often leaves patients without the comprehensive guidance they need. Many patients receive counseling from lab-affiliated genetic counsellors who focus narrowly on test-specific results rather than broader issues, leading to unmet expectations and potential misunderstandings.
The Disconnect in Genetic Counseling
Lab-based genetic counsellors, often assigned through labs' sales teams, typically focus on specific test outcomes, leaving questions about family history, alternative testing, and broader implications unanswered. This is particularly limiting for patients undergoing preimplantation genetic testing (PGT) and other complex tests where deeper context is essential for decision-making. For instance, a lab-affiliated counsellor might explain the technical aspects of being a carrier for a genetic condition but may not provide details on how this could impact other family members or guide decisions around PGT-M (preimplantation genetic testing for monogenic conditions). I was once thinking about applying for a job as a lab GC but after a discussion with a colleague it was clear the position is fraught with danger and you are encouraged to put money first before the patient. 15 minute discussions to keep costs down and incomplete testing options given in the hope that multiple tests are order to increase revenue.
Real-World Consequences for Patients
Without thorough counseling, patients can experience frustration and confusion. Imagine a patient undergoing PGT-A (preimplantation genetic testing for aneuploidies) who learns that an embryo has a certain genetic variation. While a lab counsellor can explain the test, the patient might still be unclear about whether or not to select that embryo for transfer. This situation often leads patients to seek out additional support, which is often time-consuming and stressful, and can leave their healthcare providers unaware of the patient's need for further assistance.
Solutions to Close the Counseling Gap
To address this issue, healthcare providers and labs need to set realistic expectations and offer comprehensive support. Here are some practical solutions:
Encourage Independent Genetic Counseling Referrals: For practices without in-house genetic counsellors, creating a network of independent, qualified genetic counsellors ensures patients receive well-rounded support. These counsellors can address the broader aspects of genetic conditions and testing implications.
Refer Patients with High-Risk Results for Additional Guidance: When a high-risk result appears, such as a genetic condition detected in carrier screening, an independent genetic counselor can help patients understand the potential impact, discuss options like PGT-M, and guide them through decision-making with more context.
Comprehensive Support for PGT-A Patients: Patients undergoing PGT-A testing should have access to both lab-based and independent counseling. The latter can assist with decisions around embryo selection, interpreting diagnostic options, and understanding the nuances of their results.
For Labs: Collaborate with Independent Genetic Counseling Services: Labs can play a role by building relationships with independent counseling services, providing patients with easy access to comprehensive counseling that complements the labs' specialized testing insights.
Shaping Patient Expectations for Improved Experiences
Setting clear expectations about what lab-based counseling entails versus independent counseling is key. By offering patients a complete view of their options and potential outcomes, healthcare providers can ensure a positive patient experience and support informed decision-making.
Independent services like Genomic Health, can be invaluable resources, bridging the counseling divide and helping patients access holistic genetic counseling.
For more information on our services Genetics and their services, visit FiND Genetics.
References
American Society of Human Genetics. (2021). Expanding the Role of Genetic Counseling. Available at: ASHG.org
Himes, P., & Watson, M. (2020). Genetic Counseling in the Modern Era. Journal of Genetic Medicine, 10(3), 155-161.
National Society of Genetic Counselors. (2022). Guidelines on Comprehensive Genetic Counseling.
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