Gender Affirming Care in Genetic Counseling

In the twentieth installment of the PhenoTips Speaker Series, genetic counselors with a focus on diversity and inclusion, Joanna Mercado and Marney Brillinger, and trans patient advocate and educator Holden Bender-Bernstein, discuss best practices to improve trans patient experiences in genetic counseling.


Cultural attitudes towards the transgender community have shifted in recent years, allowing trans individuals to become more visible and empowered than previously possible. As the trans population grows in response, so too do health disparities and incidents of transphobia experienced by this historically medically marginalized group. With no agreed-upon pedigree standards for trans individuals and limited cultural competency training, genetic counselors face significant challenges providing the necessary affirming care to transgender and gender non-conforming patients. To help improve trans patient experiences, PhenoTips invited Joanna Mercado, Marney Brillinger, and Holden Bender-Bernstein to share their insights.

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Find out how PhenoTips supports the representation of trans and queer individuals in pedigrees

Joanna Mercado (she/her/ella) is a board-certified genetic counselor specializing in hereditary cancer syndromes at Genome Medical, a Telehealth company. She is also a member of Genome Medical’s Force For Good team, a task force focused on increasing diversity, equity, and inclusion within the field of genetics and genetic counseling. Within the National Society of Genetic Counselors, Joanna co-chairs the Anti-Racism subcommittee of the Genomic Technology Special Interest Group. In addition, she serves as a mentor and member of the Minority Genetic Professionals Network.

Marney Brillinger (she/her/hers) holds a Bachelor of Arts degree in Psychology and worked as a teacher and case manager for children with special needs before returning to school to become a genetic counselor. Marney received her Master of Science degree in Genetic Counseling from Brandeis University and worked for several years at California Cryobank before moving into a position in the Maternal Fetal Medicine clinic at Brigham and Women's Hospital. After 13 years at both the main hospital and multiple satellite clinics of Brigham and Women's Hospital, Marney joined Sema4 in May 2019 as a hybrid tele and clinical genetic counselor providing preconception counseling at Boston IVF. Marney spends most of her non-work time doing crafting, gaming, and engaging in advocacy for the LGBTQIA+ and disability communities.

Holden Bender-Bernstein (he/him/his) is a transgender singer, actor, educator, and social worker who recently moved back to Los Angeles, CA after four years in Boston and two years in Ann Arbor for school. This spring, he graduated from the University of Michigan, with an M.A. in Educational Studies and a Master's in Social Work, and is closing out his time as Program Coordinator for Adaptable Conflict Resolution at University of Michigan's Office of Student Conflict Resolution, a position he is disappointed to leave as he begins to look for work locally. Holden has a particular interest in language accessibility, and has worked to provide education, training, and advice in various capacities around making spaces most accessible for trans folks and neurodiverse individuals.

In this panel discussion, Joanna Mercado, Marney Brillinger, and Holden Bender-Bernstein address:

  • Improving clinic experiences for transgender and gender non-conforming patients
  • Beyond standards: gender affirming family history collection
  • Challenges to providing gender affirming care in existing service delivery models
  • Education and advocacy in the genetics and genomics community

For further reading, please see the 2020 von Vaupel-Klein & Walsh paper “Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles”..

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