Melanie Nettler, PSOM Masters in Genetic Counseling ’25, Westfield, NJ
This summer, I had the opportunity to rotate through both the Division of Biochemical Genetics and the Congenital Hyperinsulinism Center as a genetic counseling intern at the Children’s Hospital of Philadelphia (CHOP). At CHOP, I was able to play a hands-on role in patient care in two different pediatric genetic counseling settings. My previous experience in genetic counseling clinics was limited to observation and interacting with patients mainly for administrative purposes, so I was excited to have the opportunity to work with patients in a clinical capacity.
I started the summer observing my genetic counseling supervisors, and as I became more comfortable with the flow of a patient session and the material, the genetic counselors began to turn portions of the appointments over to me. Throughout the summer I practiced how to contract and establish rapport with patients, elicit pedigrees, take medical histories, and explain genetic inheritance. While we had learned and practiced these components in class, working with patients themselves was a completely different ballgame.
A large responsibility of genetic counselors, and something I practiced this summer, is introducing, explaining, and consenting patients to genetic testing. Some genetic tests, like karyotypes and microarrays, are slightly more straightforward but as technology has advanced over the years, so have the types of genetic tests. One test that is being more routinely offered is whole exome sequencing. With a large, powerful test can also come information about which the patient may not be aware. For example, does a family looking for answers about their child’s condition know that this test could potentially also reveal information about consanguinity, non-paternity, or secondary findings such as adult-onset conditions? As parents who consent to this test for their child, are they aware that they may learn information about their own health? Is this information they are comfortable learning, or would they like to opt out of secondary findings? An incredibly important role of a genetic counselor is to help patients make well-informed decisions, whatever that decision may be, about their own healthcare.
When genetic tests are ordered, and results are back, said results must be disclosed to the patient. Because results and their implications may not always be straightforward, genetic counselors make sure to meet with or call families to disclose these results (and not just release them on the patient portal). This was also something I had the opportunity to do this summer, which was an important learning experience as disclosing certain results can be emotionally and psychosocially difficult conversations. Whether I was disclosing a test result, or just taking on a new role in a patient session, my genetic counseling supervisors and I would sit down ahead of time to review the content of the conversation, order in which to present pieces of information, and the most effective way to phrase a particular concept or question.
I feel so lucky to have had the opportunity to work in two pediatric genetic counseling clinics with such amazing genetic counselors as supervisors at CHOP this summer!
This is part of a series of posts by recipients of the 2024 GAPSA Summer Internship Funding Program that is coordinated by Penn Career Services. We’ve asked funding recipients to reflect on their summer experiences and talk about the industries in which they spent their summer. You can read the entire series here.
