ELANA FARRELL
Genetic counselors are the masters of interpreting and, more importantly, communicating uncertainty. They are trained to communicate complex and difficult information to families and patients about the risk of genetic disease based on an evaluation of family history, available testing options, and provide counseling services to understand results. Their training includes a blend of psychosocial counseling, critical thinking, problem-solving, and scientific knowledge, meaning they have a well-rounded skill set desirable to many fields. In fact, although many genetic counselors go on to interface with patients in a traditional clinical setting, there are opportunities to creatively apply genetic counseling to many different fields ranging from politics to tech, to nonprofits and more.
The Journal of Young Investigators had the pleasure of meeting with Jackie Tahiliani, MS, LCGC, a genetic counselor who ventured down a nontraditional path at the intersection of genetics and technology. She harnesses her clinical genetics background to improve workflow efficiency, develop new genetic tests, and drive future projects in a research setting at Invitae, a leading laboratory in medical genetic testing based in San Francisco. “I never thought that I would be in an industry role, but the moment I got into the industry, I recognized this is an amazing mix of technology and pure genetics.”
Tahiliani’s path to genetic counseling was direct, beginning in high school when a relative who was considering the profession piqued her interest in the field. She then pursued the pre-med track at The University of Virginia (UVA) where she took a human genetics course taught by a particularly phenomenal professor and discovered both a fascination for genetics and an uncanny propensity to grasp it. At the time, she asked herself “maybe this is a sign, right? Maybe this is something that would be a good path to pursue.” After graduating with a BS in Biology from UVA, Tahiliani made the decision to pivot away from medical school and pursue a Masters in Human Genetics with a specialization in genetic counseling at Howard University. “It's impressive what influence a really passionate professor can have on your trajectory in life,” she reflects.
The research Tahiliani is currently involved in is “not your traditional research that you would do in academia. One of the things that I'm potentially working on is recognizing that within our company, we have multiple databases that store similar types of information.” She explains that tech companies start with one database, but may acquire more databases as the company grows, resulting in an “accumulation of information that's all very similar, but with a slight twist on it.”
The problem with this is that it is incredibly inefficient to update several slightly different databases. Since the databases contain medical data that is "continuously changing given what we learn either through our own patient testing” and “based on information that's published in the literature,” it is incredibly important that “we update our information so that we're providing medically correct information.” Harmonizing these databases into one true database is imperative to the larger goal of providing scientifically correct genetic information to patients, and increasing ethical standards of care as a result.
Additionally, having one database that is inclusive of all data points then becomes the most accurate launching point for data mining for research projects or analysis, and allows for communication of the same genetic information to different audiences without compromising scientific accuracy. “Sometimes information needs to be written slightly differently for patient education tools, or genetic test reports need to be a little bit more data heavy. So we provide the information again, same genes, same diseases, but with a different twist. Content is the same, but audience is different and based on the audience, we have to modify the way we present the information,” Tahiliani elaborates. Effective communication is something Tahiliani thinks deeply about, not only in a science communication context but an interpersonal context. “The skill sets that I learned through genetic counseling really involved a lot of psychosocial communication and that in itself is so essential for ensuring that the people you talk to that are your coworkers and not your patients also benefit from that skill and that type of communication.”
“Honestly, I think it's heading towards personalized medicine,” Tahiliani predicts when asked about the future of genetics. Personalized medicine is an emerging medical approach that references an individual's genetic profile to guide decisions around patient treatment and disease prevention. Painting a picture of this speculative future, Tahiliani imagines that “you can modify and personalize your medical management instead of just going in for a physical and just getting a standard workup. Your workup is going to be slightly different based on what you might be at risk for. It's actually the more cost effective approach if you think about it from an insurance perspective.” Although a future in which patients have a more refined understanding of their health risks seems ideal, “it will take a while because access is essentially one of the biggest barriers.” Since genetic screens are considered supplementary if the patient does not have a personal history or symptom, they are rarely covered by insurance so patients must pay out-of-pocket. She notes that the broader issue of unequal access to routine medical care and medical providers must be addressed “in order to help with the access to genetic testing in general.”
Graduate programs in genetic counseling have garnered much more interest over the years and are very competitive and small– Tahiliani’s graduating class at Howard University was only four people. Tahiliani’s advice to create a competitive application is to “get exposure to different types of counseling, whether it's crisis counseling, volunteering in different areas, reaching out to people who are actively in the field and seeing if you could shadow them.” Shadowing a genetic counselor can give you a taste of the “emotional weight that you end up digesting if you are in a patient counseling position.” Tahiliani reflects on her own shadowing experience at UVA, she recalls “we had some really tough prenatal cases that I was exposed to and that was really tough because prenatal is a whole different area of emotions and you get the full mixed bag of emotions.” Although the field can be emotionally heavy at times, “there's a lot of fulfillment in it at the end of the day. Every day I come into work and I think ‘I couldn't have been luckier to have picked a field that has advanced so much and is constantly changing.’” She also stresses the importance of “being open to where this career could take you” because “it's not just cut and dry anymore.”
REFERENCES
Gavan, S. P., Thompson, A. J., & Payne, K. (2018). The economic case for precision medicine. Expert review of precision medicine and drug development, 3(1), 1–9. https://doi.org/10.1080/23808993.2018.1421858
Lowrance W. W. (2001). The promise of human genetic databases. BMJ (Clinical research ed.), 322(7293), 1009–1010. https://doi.org/10.1136/bmj.322.7293.1009
Correction: Apr. 13, 2022
An earlier version of this article misstated pharmacogenetics and pharmacogenomics as personalized medicine, while the three terms cannot be used interchangeably.