Transgender (trans) describes an individual whose gender identity differs from the sex they were assigned at birth. In the U.S., approximately 2.6 million people (~1% of the population) identify as transgender and this number is predicted to increase with growing awareness and societal acceptance of human gender diversity. Individuals whose gender identity falls outside of the gender binary (i.e., not exclusively man or woman) may use various labels to describe their gender, including but not limited to: non-binary, gender non-conforming, and genderqueer. We use the umbrella term “gender-diverse” here to describe these identities. It is important to recognize that while many gender-diverse people identify as trans, others do not.

In contrast, intersex refers to a variety of conditions in which a person is born with sexual/reproductive anatomy that does not fit the binary sex categories of male and female. It is estimated that ~1.7% of the world population is born with an intersex trait. Today, Differences of Sex Development (DSD) is the accepted term used by the medical community to describe congenital conditions involving atypical development of chromosomal, gonadal, or anatomical sex; however, the intersex community has voiced objection to this term because it is pathologizing. While it is possible to be both trans and intersex, they are not the same. These communities may confront similar (and often intertwined) challenges, as evidenced in this collection, but each have their own unique experiences of oppression.

Transgender, gender-diverse, and intersex (TGDI) individuals face higher rates of adverse health outcomes and poorer access to care compared to the general population. One significant barrier to care for these communities is interpersonal and systemic discrimination by providers and medical institutions, resulting in medical distrust and avoidance of healthcare services. For example, in a study conducted by the Center for American Progress (CAP) in 2020, nearly half of trans and gender-diverse respondents reported having experienced some form of mistreatment by a healthcare provider (including care refusal, misgendering, and verbal/physical abuse) and ~40% reported postponing or avoiding getting preventative cancer screenings due to prior discrimination. A systematic review published the same year demonstrated that intersex people experience a higher incidence of anxiety, depression and psychological distress due to stigmatization and discrimination by healthcare providers. These health inequities have prompted the genetic counseling field to broaden research and dialogue focused on determining and implementing best practices in caring for TGDI individuals.

As healthcare providers with expertise in the complexity of sex determination, genetic counselors have a professional responsibility to address the historical mistreatment of TGDI patients and to correct the misconception that sex and gender are strictly binary. This collection serves as a starting point for understanding the TGDI patient experience, existing barriers to providing TGDI-inclusive care, and current gender-affirming genetic counseling practices. This is not an exhaustive list and literature on this subject continues to be published. Preferred language around sex, gender, and sexuality is also constantly evolving. To best serve our TGDI patients, readers are encouraged to prioritize self-education and commit to life-long learning on this topic.