Happy Medical Genetics Awareness Week! The goal of this week is to raise awareness of the invaluable contributions that medical genetics healthcare professionals make in the diagnosis, management and prevention of genetic diseases! Each day we will feature an amazing PA who works in the field of medical genetics!

Day 1/5: Meet Jina Stephen, PA-C

Why genetics?

My interest in genetics goes back to the days in my seventh grade class where we were learning about Punnett squares and mixing pea plants to see what kind of plant would arise from any particular combination. It is so fascinating to me to think that the smallest changes among 3 billion base pairs are what make us different, predispose us to certain conditions, make us more or less responsive to certain therapies, and so much more. The field of genetics is on the forefronts of so many discoveries to aid in prevention and treatment and being utilized to create personalized medicine which I also find so astounding and promising.

What does your typical day entail?

I currently function as a Genetic Counselor Extender for hereditary cancer syndromes to put it in the simplest terms. I recently completed the Intensive Course through the City of Hope and am now a "Trained Clinician in Cancer Risk Assessment". I see patients who have been referred by medical oncologists, breast surgeons, gastroenterologists, gynecologists and primary care specialists due to young cancer diagnoses, particular pathological findings, or concerning family histories. I perform comprehensive histories, draw and evaluate family trees, explain the genetic testing process and order appropriate testing for patients who qualify or are interested in genetic testing. Once the results are back, I meet with patients who test positive for pathogenic mutations to explain the implications of the results to the patient, their family members, and their healthcare providers. Some of the mutations identified help providers make decisions regarding surgical or pharmacologic management or screening modifications. When I am not seeing patients, I attend tumor boards and conferences where I also gather more information regarding my referrals, update patients regarding changes to variant status and am also currently working on implementing a risk assessment program at my institution.

What is your favorite thing about being a genetics PA?

Since I have transitioned in to this role, what I love most is the connections I am getting to develop with individual patients and their family members. In some cases, being able to find an explanation as to why someone may have developed a particular cancer (whether it be the type or the age at which they developed it) or to explain the cancer that has happened in their family provides patients and myself with some satisfaction and gratitude. We often say that in this field, we can save lives without knowing it. The idea comes from the basis that someone who tests positive for a pathogenic mutation provides one with the opportunity to perform screenings that may not have been performed in the general population and thus hopefully prevent cancer or catch it at its earliest stage to ensure the best outcomes. I also love being a part of these oncology teams that comprise of medical oncologists, breast surgeons, community specialists, pharmacists, pathologists, and radiologists to ensure that the patients are receiving the most personalized care we can offer them.