#15-DNA Day: Unexpected DTC Results & Gender Diverse Care

In this episode we feature 2 articles that explore hot topics in genetics as well as opportunities to improve patient care in honor of DNA Day on April 25. DNA day commemorates the completion of the Human Genome Project and the discovery of DNA’s double helix. Both of these studies utilize qualitative methodologies to highlight people’s experiences and share their stories.

Segment 1: Not Parent Expected” results through direct-to-consumer genetic testing

Julia Becker (she/her) is a board-certified genetic counselor and CSU Stanislaus Genetic Counseling Program graduate. She has a strong interest in the ethical, psychological, and social implications of genetic testing, particularly in the context of unexpected parentage discoveries.

Julia is the first author of the article, "Experiences of Individuals Receiving ‘Not Parent Expected’ Results Through Direct-to-Consumer Genetic Testing," published in the Journal of Genetic Counseling. She presented this research at the American College of Medical Genetics and Genomics (ACMG) Annual Conference in 2021, contributing to the ongoing dialogue on the impact of unexpected genetic findings. Her work focuses on supporting individuals navigating complex genetic discoveries and advancing awareness within the genetic counseling community.

In this segment we discuss:

- The rise in Not Parent Expected (NPE) discoveries through direct-to-consumer genetic testing and what it means to receive this result.

- Key emotional themes from interviews with 25 participants, including identity disruption, grief without death, and shifting family dynamics.

- How a background in genetic counseling informed a sensitive and in-depth interview approach.

- The emotional motivations behind seeking out biological relatives and the varied outcomes of those efforts.

- The need for improved informed consent and follow-up care from DTC companies.

 

Segment 2: Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study

Jaime Schechner (she/her) works as a neurology genetic counselor at Boston Children’s Hospital. She completed her Master of Science in Genetic Counseling at Boston University, and previously worked as a genetic counseling assistant at Beth Israel’s Maternal Fetal Medicine Center.

Darius  Haghighat (he/him) is a reproductive genetic counselor at Boston Medical Center and an Assistant Professor of Obstetrics and Gynecology at Boston University Chobanian & Avedisian School of Medicine. He has prior experience as a cancer genetic counselor as well. He completed his Master's in Genetic Counseling at Boston University. As a queer genetic counselor he is especially passionate about LGBTQIA+ health equity.

In this segment we discuss:

- The inspiration behind focusing the study on pregnancy-related genetic counseling experiences among trans and gender diverse (TGD) individuals.

- Major gaps in reproductive healthcare for TGD patients, including misgendering, binary language, and lack of provider knowledge.

- Participant stories about feeling unseen or misgendered, and discussed the emotional impact of these encounters.

- Frustrations with terms like "maternal" and "advanced maternal age," and suggested inclusive alternatives for clinical language.

- Moments of affirming care, showing how small gestures can have a powerful impact across the healthcare journey.

- The need for systemic change, including inclusive policies, provider education, and future research that centers TGD voices.

Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple ent