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Use of Sex and Gender Identifiers in Clinical and Laboratory Genetics and Genomics (An ELSI and DEI Co-sponsored Session)

21 Mar 2025
SELI Public Health and Policy
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Sex and gender identifiers are integral to providing patient-centered and equitable healthcare. By recognizing and respecting the differences and needs related to sex and gender, healthcare providers can deliver more effective, culturally competent, and inclusive medical care. While sex and gender are distinct, they are interconnected factors that play a significant role in determining an individual's health and healthcare needs. In genetics and genomics, it is essential to recognize the complexity of sex and gender, understand the factors associated with both, and approach patient care, clinical testing reporting and research participation in an inclusive and respectful manner. The ultimate goal of this plenary session is to ensure that all individuals receive personalized and culturally sensitive genetic healthcare. Topics discussed in this session include 1) sex and gender terms and definitions; 2) social and ethical concepts related to proper use of sex/gender identifiers in genetics; 3) recommendations for use of sex/gender identifiers in genetics with a focus on both clinical care and laboratory testing; and 4) gaps in research and education that need to be addressed by future efforts. The proposed speakers consist of experts in various disciplines related to use of sex and gender identifiers, including basic science, laboratory genetics, clinical genetics, reproductive genetics, pediatrics, bioethics and genetic counseling. Speakers are from diverse backgrounds in race, ethnicity, age, academic institution, seniority, religion, and geographical location. We have members from the LGBTQIA+ community as experts in this area who will further provide the perspectives of the community.

Speakers: Kimberly Zayhowski is a queer genetic counselor and assistant professor who has published and presented extensively related to sex, gender, and LGBTQIA+ issues within the field of genetics. Andy Cantor is a non-binary genetic counselor and a certified trainer on trans and non-binary competency. They have presented trainings and talks across the country and internationally  for the genetic counseling community and beyond. Andy is a passionate educator and advocate for the rights, acceptance, and respect of the trans and non-binary community. Dr. Vilain is a medical geneticist, researcher and Professor. He is an international expert on Differences of Sex Development, with an extensive track record of clinical and research contributions in this field. Dr. Aleksandar Rajkovic is a Professor of Pathology and Obstetrics/Gynecology and Reproductive Sciences. His lab investigates the genetic underpinnings of the formation and differentiation of gametes and reproductive tract, their role of these genes in human disease, embryo lethality and origin of heritable human disorders. Dr. George Khushf is a bioethicist and philosopher of medicine. He has written extensively on how values inform the conceptual frameworks and practices of medicine.  He is the past chair of ACMG's SELI committee.This is a joint effort sponsored by the DEI committee, and also supported by the SELI committee.Dr. Quintero-Rivera represents the DEI committee; Dr. Aarabi represents the SELI committee.

Learning Objectives

  1. Recognize the differences between biological sex, gender identity, and gender expression
  2. Describe key considerations for addressing sex/gender diversity in pre- and postnatal genetic testing and counseling
  3. Discuss the limitations of prenatal sex assignment based on genetic and ultrasound findings
  4. Describe the possibility of intersex variations or discordance between assigned sex and future gender identity
  5. Discuss the evolving nomenclature of Differences of Sex Development, and its relevance in the clinical practice
  6. Explore testing reporting practices and what changes can improve accuracy of testing and the experiences of all patients
  7. Evaluate the impact of gaps and biases in medical education on LGBTQIA+ patient care, and their healthcare delivery
  8. Describe how taxonomies of sex and gender are informed by efforts to measure and report clinically relevant patient data
  9. Describe how taxonomies of sex and gender are informed by efforts to measure and report clinically relevant patient data

Agenda

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