A Q&A with Priyanka Ahimaz, Genetic Counselor
What do genetic counselors do, and what is your background?
Genetic counselors educate patients about genetic disorders and help them navigate through the complexities of having a genetic diagnosis. I've been a genetic counselor for almost 11 years, since I completed a master’s degree from the Arcadia program, which is now part of the University of Pennsylvania. A lot of genetic counselors have stories like mine: I was doing a degree in biotechnology because I love cutting-edge sciences but found myself working in the lab for hours and hours on end, not communicating with other humans. I wanted something that merged cutting-edge science with the ability to talk with and help people, and genetic counseling has that really magical combination.
Genetic counselors need a robust scientific background because if we’re going to explain a mitochondrial disorder to a patient who may have absolutely no understanding of DNA or genes, for example, we have to break that information down and help them understand how these genes work and interact with other genes. So, our knowledge of the science has to be robust.
How do your counseling sessions unfold?
Typically, our sessions with patients start out with a genetic counselor meeting with the family and gathering information: their medical history, family history, and social history—what their living situation is, and what kind of services they're currently getting, for example. We put all that together and present it to the attending; in my case, I work most closely with Dr. Wendy Chung. The geneticist and genetic counselor then come up with a plan of what testing would be best for the patient, and then the genetic counselor wraps it up by consenting the patient for the testing.
Consenting for genetic testing is pretty nuanced and is where genetic counselors are primarily involved. Whole exome sequencing or sequencing of the patient’s entire genome sometimes turns up results that the patient or family may not want to know—incidental or secondary findings—and that's the big deal. Also, sometimes genetic testing can turn up a “predictive result,” and the patient may be denied life insurance or other types of insurance down the road, because they now have a pre-existing condition. So, we have to make sure that patients have all that information and are comfortable before they proceed with testing. While the actual genetic testing is simple, patients want transparency about what's going to happen to their data, so we spend a lot of time talking about issues like that during the consenting process.
What types of medical conditions do you primarily see?
Most of the families who come to us have been looking for an answer to what is going on with their child’s or their own health and have essentially gone everywhere else. Genetics sometimes can give them the answer. Finding a diagnosis can be extremely important, even if patients have had symptoms their whole life. Just putting a name to it can give them closure, because they know what they're dealing with and have a sense of where to go next. And genetic testing doesn't always just impact the person in front of you, but more often than not, we have information for other family members about who else might be at risk. And now that we're moving into this realm of clinical trials and gene therapy, having a diagnosis can actually lead to potential treatment. We work as part of a very large team, with geneticists, social workers, and dietitians who work with some of our metabolic patients. It's a huge team effort.