This article was originally published in the Q1 2021 issue of Perspectives.
Whatever I had thought working in a genetic testing laboratory would be like, it wasn’t this. It was April 2019, and I was starting as a genetic counseling student worker in Versiti’s hematology genetics laboratory. It was a career change for me, coming from a writing background. While shadowing had given me an idea of what clinical genetic counseling entailed, I assumed laboratory genetic counselors worked in the sleek and high-tech laboratories I had seen in movie portrayals. Most importantly, I assumed that genetic testing was clear cut, and that patient history was irrelevant.
Within a short time, my misconceptions were debunked. At Versiti, I discovered that the heart of the genetic testing we provided was the patient’s story. Clinical history, after all, was necessary for optimal variant interpretation and to respond to provider testing inquiries. And though our testing methodologies and variant interpretation were state of the art, I still used a fax machine daily.
As a genetic counseling student worker, my daily work consisted of diligently collecting hematology clinic notes, supporting genetic counselor documentation, and attending interdisciplinary team meetings with our hematologists, variant scientists, genetic counselors, and laboratory directors. The genetic counselors were a key part of this team, centering patient history and drawing on their clinical skills to educate providers and optimize interpretation of the patient’s genetic testing. Their skills, combined with thorough clinical history, often helped us upgrade or downgrade variants and allowed the team to include helpful recommendations in patient reports.
I later learned that Versiti’s commitment to collecting and utilizing comprehensive patient history to enhance reporting and variant interpretation was unique. And I understood why; it was, frankly, a lot of work and required committed resources. In 2019, the genetic counselor team typically had two student workers clocking in 15-30 hours per week each, as well as two full-time genetic counselors. But still, we needed more support. Having a genetic counseling assistant on our team seemed like the perfect opportunity to expand our bandwidth and continue to support our mission of centering patient history.
I was hired in a full-time casual position as Versiti’s first laboratory genetic counseling assistant in the beginning of 2020. I started performing tasks previously completed by the genetic counselors, including reviewing daily orders for clinical utility and cost effectiveness, discussing potential order changes with providers, and communicating order changes with laboratory and client services staff. Central to these tasks was knowing the patient’s clinical history. For example, if F8 sequencing was ordered for a patient with severe hemophilia A, we would recommend F8 intron 1 and 22 inversion testing to be performed first, followed by F8 sequencing if negative.
My efforts in completing these “laboratory stewardship” tasks were fruitful. In my first 10 weeks, I reviewed hundreds of incoming hematology genetic testing orders, and with consultative guidance from the genetic counselors, more than 10% of orders were changed, saving clients tens of thousands of dollars. This data resulted in a poster presentation during the 2020 NSGC Annual Conference.
My other responsibilities included managing provider inquiries, drafting clinical history summaries for results reports, managing records collection, and helping standardize internal processes. Other laboratories wishing to implement a similar position to integrate patient history for optimal reporting must invest time and resources in these endeavors and clearly develop a policy about the scope of the genetic counseling assistant’s role. Investing in the genetic counseling assistant’s knowledge base of relevant conditions is also crucial, as is collecting data about the role’s utility.
I left my genetic counseling assistant position in August 2020 to begin the genetic counseling training program at the University of Wisconsin-Madison. I no longer think that genetic testing laboratories are sleek places devoid of the patient experience. I am now able to appreciate the partnership between laboratories and providers, and I will never send a patient sample without including comprehensive patient history. I now know that, for many laboratory GC teams, the patient’s story is at the center of everything they do.
Acknowledgements: I owe a huge thank you to Jamie McCreery, MS, CGC, and Stefanie Dugan, MS, CGC, for supervising and supporting me during my time at Versiti.