When patients hear from their healthcare providers that they may be good candidates for genetic testing, they typically have questions…or they may not even know what questions they should be asking in order to consent or not in an informed way. That is when genetic counseling should come into the picture. Pre-test genetic counseling, or genetic counseling that happens before genetic testing occurs, benefits patients by helping them evaluate all of their options ahead of testing and make well-informed decisions, leading to better outcomes.
For many of the most impactful genetic tests, genetic counseling is strongly recommended by professional healthcare organizations to occur before genetic testing. Pre-test genetic counseling is a key element of the genetic testing process for ensuring that patients understand important information about the genetic conditions at the center of the evaluation, potential benefits, and risks of genetic testing, what the results may reveal, as well as the limitations of potential results. It also helps patients better understand their health risks in the context of their own personal and family history and how genetic test results should be interpreted based on this critical context.
A study by InformedDNA1 shows that 92% of the tests requested for prior authorization are usually submitted by providers without genetics credentials. Studies have shown about 30-34%2 of primary care physicians report ordering genetic testing. However, these providers also report a lack of training and knowledge regarding testing. Despite reporting a poor understanding of genetics, many providers continue to order genetic tests without the support of a genetics specialist.
Clinical genetic counseling services with a board-certified genetic counselor/trained genetics specialist are considered standard of care for multiple scenarios, such as assessing for hereditary forms of cancer. While the National Comprehensive Cancer Network (NCCN) recommends pre-test genetic counseling to be conducted by a board-certified or credentialed genetics health professional, there is great variability in the adherence to genetic counseling guidelines across the country.
Some known barriers to pursuing clinical genetic counseling and testing include location and travel requirements, gaps in the number of trained genetics professionals available, and systemic health equity issues resulting in disparities in access to genetic services for underserved populations3. For example, rural areas or certain states have limited access to in-person genetic counseling, which can disproportionately reduce testing rates among minority and underserved populations. However, many of these challenges are currently surmounted via telehealth genetics services.
In a typical pre-test genetic counseling appointment, the genetic counselor takes a detailed personal, family, and medical history to determine the potential for a hereditary condition and facilitates genetic testing, when appropriate, based on professional guidelines. Telehealth genetic counseling increases access to board-certified genetic counselors by providing patients with a service through a mode of communication that is readily available, convenient, and private. Telehealth genetic counseling also mitigates many of the access barriers to clinical genetic counseling services for underserved populations.
Genetic counselors are valuable members of the healthcare team who can support providers offering hereditary genetic testing to their patients. Non-genetics providers often struggle to apply genetic concepts confidently in the care and management of their patients, as shown in a recent survey of OBGYNs and family medicine physicians, among whom only slightly more than half correctly recognized the inheritance pattern of the BRCA1 and BRCA2 genes, which are associated with hereditary breast and ovarian cancer (HBOC). In this same survey, a similar proportion of respondents were able to correctly identify the lifetime risk for breast cancer associated with BRCA1 disease-causing mutations4.
The benefits of pre-test genetic counseling with a genetic counselor are not limited to patients and providers; they also extend to health plans.
Health plans may require genetic counseling with genetics specialists for certain indications to enhance the quality of care and decrease unnecessary costs associated with inappropriate genetic testing. By requiring or recommending pre-test genetic counseling, health plans ensure appropriate care and well-informed downstream decision-making for their members who are pursuing genetic testing. According to our research, a pre-test genetic counseling requirement enacted by one national health plan not only enabled 6,602 of its members to receive care considered best practice by multiple professional societies, but also resulted in cost avoidance both from the elimination of medically-inappropriate testing and from patients making an informed choice not to pursue testing. These reasons include an acknowledgment that another family member may be a better candidate for testing, which allows the opportunity for more informative testing for the member and their family.
The ability to make informed decisions around genetic testing and therapies is key to capturing the full potential and value of precision medicine. As new research and technologies transform the genetic landscape, access to genetics expertise empowers both physicians and their patients and health plans to make informed decisions for improved health.
InformedDNA was the nation’s first telehealth genomics services company. Our real-world clinical guidance, cost management and patient navigation solutions are built upon the most current genomics insights and are designed to optimize clinical decisions across the care delivery spectrum.
We have helped manage the health benefits of more than 135 million covered lives and have navigated hundreds of thousands of people to the right treatments or clinical trials.
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1.Bajguz, D., Danylchuk, N. R., Czarniecki, M., Selig, J. P., Sutphen, R., & Kaylor, J. (2021). Utilization of genetic testing: Analysis of 4,499 prior authorization requests for molecular genetic tests at four US regional health plans. Journal of Genetic Counseling, 00, 1– 10.
2. Cragun, D., Camperlengo, L., Robinson, E., Caldwell, M., Kim, J., Phelan, C., … & Pal, T. (2015). Differences in BRCA counseling and testing practices based on ordering provider type. Genetics in Medicine, 17(1), 51-57 and Haga, S. B., Kim, E., Myers, R. A., & Ginsburg, G. S. (2019). Primary care physicians’ knowledge, attitudes, and experience with personal genetic testing. Journal of personalized medicine, 9(2), 29
3. Cohen, S. A., Bradbury, A., Henderson, V., Hoskins, K., Bednar, E., & Arun, B. K. (2019). Genetic counseling and testing in a community setting: quality, access, and efficiency. American Society of Clinical Oncology Educational Book, 39, e34-e44.
4. Dekanek, E. W., Thull, D. L., Massart, M., Grubs, R. E., Rajkovic, A., & Mai, P. L. (2020). Knowledge and opinions regarding BRCA1 and BRCA