By Kelly Athman, MS, CGC, Senior Director, Medical Affairs, InformedDNA
With people looking to learn more about their family history, at-home [or, direct-to-consumer (DTC)] genetic testing kits have become increasingly popular. And this popularity is only expected to continue to expand, as the DTC testing market is estimated to grow at 13% CAGR through 2027. As more and more people use DTC genetic test kits, healthcare providers should expect to hear from patients who have received results and want to discuss their risks for a broad variety of inherited conditions. Providing the right context for these tests and having processes to ensure that the appropriate next steps take place can help providers assist their patients in reaping the benefits of increased awareness about genetic conditions while limiting the risks, which can be substantial.
Communicating the Proper Context
At-home genetic testing kits are more than just entertainment, and this is an important message for patients to understand. These tests are not diagnostic tools, and interpreting the results and identifying appropriate next steps can be complicated. If the results aren’t interpreted correctly, there can be negative consequences for the patient and provider.
For example, positive test results may cause anxiety without the right context. Let’s say the individual has a finding that is positive for a particular pathogenic gene variant. Since the person may have access to very little accurate information on what the result means for their health and the health of their family members, it is reasonable that they might jump to worst case scenarios unnecessarily.
Conversely, an individual may receive a negative result when testing for a set of common pathogenic variants associated with an increased risk for specific cancers. However, there may be less common variants in other parts of those genes, which were not tested at all through the DTC kit. Although the individual may believe they are no longer at risk based on the “normal” DTC test result, they may, in fact, carry a different pathogenic gene variant that the at-home kit does not test for, leaving them unaware of their elevated risk. Moreover, if the individual does not share the results of the DTC genetic test with their healthcare provider, they may miss the opportunity to discuss options and identify this undetected risk, which can have negative health and care cost implications.
Ensuring an Appropriate Response
As the DTC genetic testing market continues to thrive, healthcare providers should consider proactively addressing the above-mentioned challenges to facilitate the best possible patient care. Below are three tips for providers to consider when developing a strategy.
One: Include genetic counselors as part of the patient care team – this can easily be done virtually.
When a patient brings a DTC genetic test result to a care appointment, providers may not have all the answers. Just like a primary doctor refers a patient with a heart condition to a cardiologist, patients with genetic test results can be referred to a board-certified genetic counselor. Telehealth genetic counseling visits are a covered benefit under most commercial health plans, making it easy for patients to get the information they need without even leaving their home. These clinical professionals are specifically trained in medical genetics, molecular genetics and psycho-social counseling. Relying on their expertise is beneficial for both patients and providers.
For patients, genetic counselors provide the expertise needed to interpret test results in a way that is meaningful, breaking down complex information into layman’s terms. They also put any findings into context using the individual’s medical and family history to arrive at the appropriate interpretation and options.
From a provider standpoint, a genetic counselor navigates complex findings to enable a complete understanding of the information and recommend next steps. They can offer best-practice recommendations for follow-up screenings or other next steps in the care plan, making sure that any interventions are tailored to the individual patient’s results and their unique needs.
Two: Recommend proactive clinical evaluation to patients if there are concerns about hereditary diseases.
Sometimes an individual will talk to their physician about family medical history concerns before buying a DTC genetic test. Providers should be prepared for these conversations, which may include encouraging the patient to start, not with a DTC test, but with a referral to a genetic counselor. A genetic counselor takes a detailed personal medical and family history to understand potential risks, and when appropriate, to recommend the right clinical-quality genetic test. Many genetic counselorss offer guidance to patients and providers regarding health plan coverage of genetic counseling services and clinical-grade genetic tests, as well as how to navigate the process.
Three: Stay connected with health plans about genetic testing coverage policies.
There are an estimated 150,000 genetic tests on the market today1, with new ones arriving weekly. While it’s hard for healthcare providers to keep up, it can be equally so for health plans as they develop or update genetic testing coverage policy.
Historically, health plans have covered individual tests or singular conditions with numerous policies. Yet these policies have often been static in nature and organized by individual genes, making it difficult to find the relevant criteria for a clinical situation. In addition, policies have tended not to adequately cover the breadth of genetic tests available. However, by taking a more dynamic and flexible approach to policy writing, a health plan can make sure the right test is covered for the right situation while keeping up with all the changes the market demands. When policies are organized by clinical indication, they consider all related genetic tests, genes and coding. Not only does this method enable more effective coverage, it also makes it easier to keep policies updated to reflect emerging tests and new evidence of clinical utility.
To effectively navigate genetic testing coverage policies, providers may want to proactively connect with the health plans they network with to review current policies and prepare for any planned policy changes. Policy updates are typically outlined on health plan provider homepages or through regular newsletters and communications geared towards providers. For significant health conditions, it is the standard of care to confirm a positive result for a DTC test with a clinical-grade test. Genetic counseling is key in the process of clinical confirmation of DTC genetic test results in order to assess any additional risks based on the patient’s personal and family history and recommend further genetic testing or evaluation when necessary.
A Solid Strategy Can Yield Better Care
Providers who consider how best to leverage patients’ interests in genetic information, while mitigating the risk for misinterpretation of DTC genetic test results, are able to help patients make more informed health decisions and avoid unnecessary interventions. Relying on genetic counselors to assist with navigating the complexities of genomics-based care options means being more confident that patients receive the most appropriate, cost-effective, and patient-centered care.
About the author: Kelly Athman is a board-certified genetic counselor with more than 15 years of experience in the healthcare industry. Her passion for increasing access to genomics care and appropriate testing drives her role as the senior director of medical affairs at InformedDNA.Having worked within a health plan prior to pursuing a career in genomics enables Kelly to bring a unique perspective on the intersection of genomics and benefits management. Prior to joining InformedDNA, she served as a genetic counselor for Fairview Hospitals and Clinics, Children’s Mercy Hospital, and CentraCare Health Systems. Kelly holds an M.S. in Molecular, Cellular, Developmental Biology & Genetics and a B.A. in Psychology and Biology from the University of Minnesota.
1Mike May -, May, M., Vuksanaj, K., 26, O., & 19, O. (2020, November 20). Genetic counseling for all. Inside Precision Medicine. Retrieved January 14, 2022, from https://www.insideprecisionmedicine.com/magazine-editions/volume-7-issue-no-6-november-december-2020/genetic-counseling-for-all/