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Genetic Counseling for Transgender Patients: Perspectives on Terminology, Disclosure of Transgender Status, and Proposed Pedigree Nomenclature

  • Author(s): Lyninger, Hallie Shpack
  • Advisor(s): Bocian, Maureen
  • et al.
Creative Commons Attribution-NonCommercial 4.0 International Public License
Abstract

In a 2018 study, over 90% of genetic counselors reported that they would like more education as to how to meet the needs of transgender and non-binary patients, but to date there is no published research on genetic counseling for these populations. This study aimed to gather the perspectives of transgender/non-binary individuals on four issues: overall perception of genetic counseling; language and terminology used in genetic counseling; willingness to disclose gender identity and sex assigned at birth to a genetic counselor; and appropriateness of proposed pedigree symbols for transgender patients. A total of 135 eligible participants responded through an anonymous online survey. Responses showed a strong preference for specific, accurate, biological terms over more general language, such as saying “estrogen” instead of “female hormones.” Participants reported a significantly lower likelihood of disclosing their transgender status if they perceived such disclosure as having a low relevance to the referral indication. When surveyed regarding pedigree symbols, 79% of participants felt that a shape matching the gender identity of the patient with text underneath to denote sex at birth was appropriate for transgender men and women, preferring those symbols to both of the other sets of symbols offered. For the hypothetical non-binary patients, participants preferred a diamond with text underneath to denote sex at birth, with 76% rating it as appropriate. Taken altogether, this study provides insight that can be used to guide genetic counseling policy and education to ensure that transgender populations are getting equivalent care to cisgender patients.

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