It’s 3 p.m. on a Friday and Gene Counselier, a genetic counselor for Healthcare Center, is at their desk after a long day at the clinic, placing patient orders. Gene knows from their years of working with patients that choosing the right testing laboratory is vital to set their clinic and patients up for success. Gene opens the Ambry Genetics (“Ambry”) portal and begins to place an order…

Before Gene places that order, let’s look under the hood to see how a genetic test gets developed at Ambry. Genetic counselors (GCs) have been an integral part of Ambry’s culture since the lab opened in 1999 and play pivotal roles in helping drive the company’s mission forward—to translate scientific research into clinically actionable test results. It’s no surprise that GCs touch almost every step of test design, development, marketing, market access and sales training. Within the laboratory setting, GCs elevate their skillset beyond the clinical acumen acquired for patient counseling. There are over 100 genetic counselors, in over 10 departments, with 500+ years of combined experience powering every aspect of Ambry.

Well before a genetic test is available to order, the first step in the evolution of a test is the role of a product manager. GCs in the product development field are the intersection between business, design and technology, and the customers. They are responsible for idea generation and scoping (“Is this product a good idea?”), concept and feasibility (“Do we want to do this and can we do it well?”), planning (“Do we know how to do it?”), and design and development “(How do we bring this product to market?”). GCs in marketing are also involved in designing the ordering portal and marketing material for patients and providers.

Product manager GCs also collaborate with Market Access GCs. Market access GCs encompasses knowledge of medical policy, billing and reimbursement, and collaborating with sales and marketing. A clinical interpretation of medical policy is key. A phenomenal clinical test won’t be successful if it isn’t covered by insurance and patients receive huge bills following testing. 

Our market access GCs also liaise with the members of the sales team in the field—both Account Executives and Genomic Science Liaisons. These individuals are the direct contact for the billing/logistic and clinical questions for clients. The sales team is also responsible for educating non-genetics providers about the importance of genetic testing, highlighting recommended guidelines and how to identify patients who need testing. This increases referrals to the clinical GCs, like Gene.  

“The right test, for the right patient at the right time” is the mantra of an accessioning GC. Once the testing sample makes it to the lab, these GCs review all test orders and paperwork to avoid duplicate testing, fix incorrect orders, and confirm the test is appropriate based on age, biological sex, ethnicity, clinical findings, family history and professional guidelines. Approximately two out of every three orders received require an update to the test order before the test gets processed.

The reporting and variant assessment team is the heart of a genetic testing laboratory. Not only does this team produce day-to-day reports, they also produce the quality, continuous work that drives the innovation of genetic testing. The reporting and research team drives the gene-disease clinical validity updates, variant assessments and reassessments, family studies and the field support for client questions. They take the raw genetic information and use it to paint a picture of the clinical story for the ordering provider that they can use to drive patient care. 

Two weeks later, Gene gets an email that the patient’s results are ready and calls the patient. Gene opens up the clinic schedule for the next week. Their schedule is booked out for the next six months because the newest guidelines recommend that every patient with a very common diagnosis consider genetic testing. Gene knows that they still have a long way to go in identifying every patient who needs to have genetic testing and there are still huge gaps in care for genetic testing. After all, Gene is only one person. 

Back at the lab, the product management GCs receive Gene’s feedback; they have been in Gene’s position before and know Gene’s struggle. Their team is working on a solution to provide all patients access to lifesaving genetic information while providing standardization for high-risk identification and pretest education to allow GCs to practice more efficiently. They understand where the industry is moving and their goal is to allow GCs to function at the top of their scope of practice, trim the unnecessary tasks and free up their time to see the patients that need their unique skills the most. 

It is the responsibility of genetic testing laboratories to put the most qualified people in positions where they can maximize their abilities to have the greatest impact on patient lives. As a result, it is no surprise that Ambry GCs play a huge role in every step of the genetic testing process to create the best possible product for our partners, the clinical GCs.