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Genetic testing has become an essential part of modern medicine, influencing patient care across multiple specialties and within the laboratory. As testing grows more complex, genetic counselors in the laboratory find their roles increasing to areas including business development, education, research, and, of course, enhancing patient care. However, there is still room for laboratories to improve upon how they integrate and collaborate with these counselors.
Here we explore some best practices for working with genetic counselors, common barriers to integration, and how laboratories can make the most of these collaborations.
Genetic counselors play an important role within the laboratory. They not only help determine the most appropriate genetic tests for patients but are essential in interpreting complex genetic results and communicating findings to clinicians and patients.
“Medical school curricula generally don’t focus on or dedicate much time to genetics education; even the most progressive programs offer maybe a semester of genetics. So, bringing the genetics expertise to the table is essential,” says Megan D. Maxwell, MS, LCGC, Lead Laboratory Genetic Counselor for Pathology Genetics Specialty Services at University Health in Texas.
Initially, integrating genetic counselors into the laboratory was driven by gaps in test routing and result interpretation according to Stephanie Whitehead, MBA, MPH, BS MLS(ASCP)CM, Executive Director of Pathology and Laboratory Services at University Health in Texas.
“The obvious liaison to fill that gap was a laboratory-based genetic counselor,” she says. “They ensure that the right test is ordered for the right patient at the right time, benefiting both the patient and the health system.”
However, the role of genetic counselors in labs has evolved to be more complex. “Historically, it was about setting up tests and helping clients understand what a test can and can't do. Now, it has expanded into communication, education, and even utilization management,” says Jessie Conta, MS, CGC, a licensed genetic counselor and owner of Pickhandle Consulting LLC.
Ms. Maxwell shared about a complex prenatal case that demonstrates how genetic counselors can “profoundly impact patient outcomes. “A couple had lost multiple pregnancies to a lethal renal disorder and the results of the initial, non-genetic-counselor-mediated tests were inconclusive. Once a genetic counselor was available to guide a more comprehensive test strategy, potentially causative genetic variants were identified. Using that information, the couple underwent assisted reproductive technology and has since had two healthy children,” she says.
Additionally, genetic counseling services have shown measurable improvements in diagnostic success rates. “There has been a demonstrable increase in diagnostic yield since we integrated genetic counseling services. Our selection process now rivals the accuracy of full exome or genome sequencing, even when using more targeted tests,” says Ms. Maxwell.
Despite their important contributions to patient care, genetic counselors still face challenges when integrating into laboratory teams.
“Some clinicians did perceive our role as obstructionist at first, a purely cost-avoidance initiative,” says Ms. Maxwell. “But over time, they grew to embrace us as a resource—helping mediate test choices rather than just restricting them.”
Another significant barrier is financially justifying counselors in the laboratory, Ms. Conta says. “There’s no direct billing for our time, so our value has to be demonstrated through improved utilization, diagnostic yield, and efficiency.”
Sometimes the clinical hierarchy can also limit collaboration, though it may be unintentional. “I’m not a physician, so my recommendations might not always be received the same way as a pathologist’s,” Ms. Conta adds. “In some cases, I had to relay information through a pathologist so that it was taken more seriously.”
To get the most benefit out of genetic counselors’ expertise, laboratories should consider incorporating them as core members of the team or creating regular opportunities for them to participate.
“The most important thing is to give genetic counselors a real seat at the table—whether it’s in lab utilization advisory meetings or other multidisciplinary teams,” says Ms. Maxwell.
Ms. Whitehead explains how integration has played a key role in her lab’s success. “We built a process within our electronic medical record system so that genetic testing orders flow through our department. This allowed us to incorporate genetic counselors into daily workflow rather than as an afterthought.”
Additionally, genetic counselors are important in education. “Genetic counselors act as translators between different stakeholders—helping ordering providers understand results and ensuring the lab’s findings are communicated effectively,” says Ms. Conta.
Because of the sensitivity and ethics related to genetic testing—like its potential to uncover unexpected familial relationships, such as cases where a presumed biological parent is not genetically related to a child—having a genetic counselor on hand can be a big help. “In my previous laboratory genetic counseling role at Seattle Children's, we worked with our ethics team to develop a policy on how to handle these discoveries, ensuring that privacy and patient well-being remain the top priority,” Ms. Conta explains.
As genetic testing continues to evolve, there’s a good chance that genetic counselors will play an even greater role in laboratory medicine.
“Genetic testing is expanding into all areas of medicine, which means genetic counselors will only become more essential in the lab,” says Ms. Maxwell.
There is also an opportunity to advance how results are communicated. “The future is in improving how we communicate genetic results—making reports clearer, integrating better pre-test education, and ensuring follow-up conversations happen,” says Ms. Conta.
Genetic counselors are also expanding into new areas. “We’re seeing genetic counselors move beyond traditional roles into test development, marketing, and even reimbursement strategies—helping shape the future of genetic testing from the ground up,” Ms. Conta says.
As genetic testing continues to advance, the necessity of genetic counselors is likely to grow. By embracing their expertise, laboratories can improve patient care and lead the way in genetic medicine.