A New Model for Genetic Counseling Service Delivery

University Health’s novel genetic counseling program has improved test utilization management and enhanced clinical decision-making

Michael Schubert, PhD

Michael Schubert, PhD, is a veteran science and medicine communicator. He holds graduate degrees in biochemistry and molecular biology with a research focus on chromatin structure and function and has written on subjects from subspeciality pathology to fictional science. In addition to writing and editing, he is co-director of the Digital Communications Fellowship in Pathology and professor of professional practice in academic writing at ThinkSpace Education, the University of Chichester.

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Published:May 28, 2024
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     Photo portrait of Stephanie Y Whitehead, MBA, MPH, MLS(ASCP)

Stephanie Y Whitehead, MBA, MPH, MLS(ASCP), is the executive director of pathology services at University Health System, and the co-host of the eLABorate Topics Podcast.

Five years ago, the clinical laboratory at University Health in San Antonio, Texas, realized that there was a need for better management of their genetic testing. However, because the institution and its affiliate lacked a traditional clinic model where providers referred patients to genetic counselors for consultation, the lab developed an alternative service delivery model by establishing a brand-new laboratory genetic counseling program.

Stephanie Whitehead, executive director of pathology services at University Health, and Megan Maxwell, the laboratory’s manager of genetic operations, discuss the motivations behind this new approach—and how and why other labs should get on board.

Bringing genetic counseling into the lab 

“We have a multidisciplinary group called the Laboratory Advisory Utilization Subcommittee, which is led by the lab and composed of hospitalists and specialists from a variety of inpatient and ambulatory services,” explains Whitehead. The goal is to examine how lab testing is used at University Health and explore potential avenues for improvement—and it was in one such meeting, while discussing the cost and utilization of genetic testing, that the group discovered there was no established guidance around managing those tests.

“We found that we needed a person—or a team of people—dedicated to laboratory services who could help us review genetic test requests. That wasn’t something that had previously existed in our laboratory or local area, so we had to build it from the ground up.” Although it didn’t take long to justify the new position, Whitehead says it was trickier to find the right person with the right background and ability to establish processes with little historical foundation.

     Photo portrait of Megan Maxwell, MS, LCGC

Megan Maxwell, MS, LCGC, is a licensed and certified genetic counselor with 15 years of experience in the field, 10 of which have been dedicated to laboratory-based genetic counseling.

It’s not often that a laboratory has the opportunity to build a new program from the ground up—and that presents both challenges and opportunities. However, Maxwell enthusiastically took on both. “In the beginning, [Megan] and I worked really closely together,” says Whitehead. “I wanted to create a relationship between her and the service lines that were using genetic testing at high volumes, but I also wanted to give her the autonomy to start building a program and letting us know what she needed—tools, equipment, team—to be successful.”

A story of success

When asked about the benefits of laboratory genetic counseling, one example comes instantly to Maxwell’s mind—a couple whose previous pregnancies had severe kidney issues not compatible with life. Typically, such issues are one-off occurrences, but this couple experienced two consecutive pregnancies with the same complications.

“That’s when I came into the picture,” says Maxwell. “It turns out that a microarray analysis had been run on the first child who had passed after delivery, and they were considering the same test for the second child. I advocated for a much more comprehensive test because I suspected that, with two back-to-back instances of the same issues, there was a high chance of a recessive condition for which both parents were carriers. We were able to collect a sample from the second child, as well as from both parents, and I was even able to obtain some stored DNA from the first child.”

Quad whole exome sequencing revealed that the mother had a pathogenic variant in a gene that, at the time, had no known association with human disease. Although the father had only variants of unknown significance, Maxwell examined these from a functional standpoint and in a rodent model to determine that variant was likely also pathogenic.

“The couple thought that they were never going to be able to have children—but the clinical team used this genetic information to perform in vitro fertilization with preimplantation genetic testing. Only fetuses that had not inherited both variants were implanted, which led to their first successful pregnancy. He’s now almost two, and thanks to another round of in vitro fertilization, his mother is pregnant with another healthy baby. That is a big-time success story.”

Words of advice

Many labs already collaborate with academic or clinical genetics departments for reviews of their testing, but Maxwell considers the University Health model unique: “We do a lot of indirect patient care across multiple specialty service lines. We go into each patient’s chart, look at their presentation, and consult with the clinician on what tests to order, so it’s quite hands-on. In the interpretation stage, we’re the professionals who help the clinician understand the test results, what they mean for the patient, and how to move forward.” This ensures that genetic counseling expertise reaches more patients than would be served through a standard clinic.

Look for lab experience and business acumen when hiring 

For labs interested in adopting such a service delivery model, Maxwell says, “My advice is to ensure that the genetic counselor you hire to start the program has a lot of experience in the laboratory setting, as well as some business acumen. Those things are still underrepresented in genetic counseling graduate programs, whose goal is to graduate competent and capable genetic counselors who can pass the (highly clinical) board exam. Laboratory genetic counseling as a subfield is not really taught in most programs—and neither is business. There’s a lot of on-the-job learning, so I recommend hiring someone with extensive experience.”

Focus on relationship building

Another challenge the University Health program faced was change management. “We work in an organization with experienced research and clinical experts,” says Whitehead, “so we couldn’t just start saying, ‘You should order this’ or ‘You can’t order that.’ It took some careful relationship building to help our clinical partners feel confident about the services provided. The purpose wasn’t to hinder patient care, but to deliver faster and more accurate results for each patient.” 

Embrace out-of-the-box thinking

Maxwell agrees: “Genetic testing has permeated every level of care, and there are not enough genetic counselors to go around. We have to think outside the box for ways to reach more people. I really believe that we’re providing a service to our patient-facing colleagues by collaborating with them to request the right test for the right patient at the right time. It serves the patients, too, because they don’t have to sit on a six-month waiting list for genetic counseling. Our providers have come to see us as a resource and now, five years later, we see better clinical decision-making—and better test utilization management—as a result.”


Michael Schubert, PhD

Michael Schubert, PhD, is a veteran science and medicine communicator. He holds graduate degrees in biochemistry and molecular biology with a research focus on chromatin structure and function and has written on subjects from subspeciality pathology to fictional science. In addition to writing and editing, he is co-director of the Digital Communications Fellowship in Pathology and professor of professional practice in academic writing at ThinkSpace Education, the University of Chichester.


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Next Generation Sequencing (NGS)Genetic TestingLeadership and Staffingwomen leadersBusiness
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Stephanie Whitehead, executive director of pathology services at University Health, and Megan Maxwell, the laboratory’s manager of genetic operations, discuss the motivations behind this new approach—and how and why other labs should get on board.
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