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Understanding the Role of a Laboratory Genetic Counselor

Genetic counselors are recognized as specialized healthcare providers who work in a clinical setting to support patients who are seeking information about inherited diseases. However, many healthcare providers may not be familiar with the different roles genetic counselors assume beyond the clinical setting.  Genetic Counselor Awareness Day is an opportunity to highlight the numerous roles laboratory genetic counselors play at Quest Diagnostics. From before a specimen arrives to after a result has been reported, the 65 genetic counselors at Quest Diagnostics touch every aspect of genetic testing.

As part of the Payer Access and Reimbursement team, genetic counselors focus their efforts on improving coverage and reimbursement to increase access to medically necessary tests. This involves engaging with health insurance providers throughout the life cycle of a test. When launching new tests, they evaluate the insurance coverage and obtain input on evidence for insurance reimbursement. For existing tests, they engage with various teams at Quest to monitor insurance coverage denials and address barriers in coverage with insurance providers. Often, their role also involves engaging with professional societies, coalitions, lay advocacy groups, and key opinion leaders to aid in insurance coverage and reimbursement. 

Genetic counselors are also involved in the development of many genetic tests, making sure that patients have access to the most appropriate genetic testing available. Marjan Champine, GC, is a director of Product Management at Quest Diagnostics. She was vital to the launch of Quest’s first consumer-initiated genetic test that helps to determine risk for important inherited health conditions like breast cancer, colon cancer, high cholesterol, and heart problems. Marjan used many skills from her training to help her team define, design, develop, and deliver a genetic screening test that includes wraparound services such as a personalized digital user interface, user-friendly reports, and access to genetic counseling.  

The most well-known role of the genetic counselor in the laboratory may be in handling incoming orders. This is because many genetic counselors help providers understand the different genetic tests and assist in coordinating testing. Genetic counselors like Rebecca Johnson Wheeler support clinicians, many of whom are not genetics professionals, in ordering the most appropriate testing for their patients based on their personal and family history and pertinent clinical guidelines. Rebecca draws on nearly a decade of experience as a clinical cancer counselor to connect with and educate clinicians on a practical level, discussing concepts such as somatic vs germline cancer testing and explaining the implications of different test results. Genetic counselors like Meagan Nashawaty go out of their way to make sure that patients get their test results as soon as possible. Meagan is involved in helping babies get tested for spinal muscular atrophy (SMA). As there is a treatment available for SMA, Meagan knows that the faster the babies can get their results, the faster they are able to get treatment and the better the lifelong outcome is for these children. Meagan has been known to call out results on weekends to make sure that the babies can get the help they need.

Once a patient’s DNA is analyzed, Quest’s variant scientists, many of whom are genetic counselors, are involved in the analysis and interpretation of genetic variants. Genetic counselors like Jade Mukri utilize the experience gained in clinic as a genetic counselor, along with their knowledge of variant interpretation. Jade has used her experience in seeing patients with many conditions, such as Gilbert syndrome, to determine if variants should be reported. Gilbert syndrome is an inherited liver disorder that affects the body’s ability to process bilirubin. Jade states that “on an even deeper level, I have more empathy for the patient’s circumstances. I know that many of the patients waited a long time for a genetics appointment. Some travel long distances. Genetic testing can be expensive. There’s perhaps a separate blood draw that they had to travel for. Then they have to wait for results. I keep all of this in mind when I work on patient results.”

Genetic counselors are often involved in writing genetic testing reports. Genetic counselors such as Elaine Weltmer can use their training to make genetic concepts understandable to non-genetics providers and patients by writing clear reports. Elaine makes sure that reports follow a standard format and contain consistent language so clinicians and patients can easily find the information they need. Elaine also works closely with lab techs, directors, and variant scientists to make sure any information relevant to the patient’s personal situation is addressed. For example, if a patient is found to have a variant that was previously identified in a family member, this would be specifically noted in the report.

Genetic counselors have many diverse roles at Quest Diagnostics.  “By working with genetic counselors across all aspects of the product, whether that is the design of the panels, the way results are reported, the client ordering experience, or the way billing works, Quest makes sure our genetic products are putting patients first and getting the valuable answers they and their providers need,” said Tamara Smith, Senior Director of Global Specialty Genetics. “Their implicit understanding of patient journeys and almost innate ability to distill complicated genetics concepts into digestible pieces make them invaluable to the team no matter which job they are in.”