Sex and gender diversity have long existed across cultures throughout history. Despite this, the harmful perpetuation of the gender and sex binary persists within all specialties of medicine, particularly medical genetics. In reality, sex characteristics encompass many dimensions influenced by genetics, hormones, and anatomy, challenging the simplistic binary categorization. Similarly, gender is a complex and multifaceted social construct that defies binary classification, reflecting diverse identities and experiences beyond traditional norms.

Transgender (trans) describes an individual whose gender differs from the sex they were assigned at birth, while cisgender refers to an individual whose gender aligns with the sex assigned to them at birth. According to U.S. Census data from 2024, approximately 3 million Americans (~1.1% of the population) are transgender. As awareness and societal acceptance of human gender diversity has increased, so have the labels used to describe gender identities that are not exclusively man or woman. These include but are not limited to: non-binary, gender non-conforming, and genderqueer. We use the umbrella term “gender-expansive” here to describe all non-cisgender identities. It is important to recognize that while many gender-expansive people identify as trans, others do not.

Intersex refers to people with physical sex characteristics that do not conform to standard, binary definitions of male or female sex. This can include variations in gonads, chromosomes, hormones, secondary sex characteristics and/or genitals. Some in the medical field use the term differences of sex development (DSD), but many within the intersex community have rejected the term as pathologizing. Instead, terms like intersex and variations of sex characteristics (VSC) have been suggested. It is estimated that 2% of people are born with a VSC. While it is possible to be both trans and intersex, they are distinct communities. These communities may confront similar (and often intertwined) challenges, as evidenced in this collection, but each have their own unique experiences of identity and oppression.

Transgender, gender-expansive, and intersex (TGEI) 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-expansive 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 affirming and inclusive practices in caring for TGEI individuals.

As healthcare providers with expertise in the complexity of sex determination, genetic counselors have a professional responsibility to address the historical and current mistreatment of TGEI patients, and to correct the misconceptions that sex and gender are strictly binary. This collection serves as a starting point for understanding TGEI patient experiences, existing barriers to providing TGEI-inclusive care, and current recommendations for providing sex and gender affirming genetic counseling services. This is not an exhaustive list and literature on this subject continues to be published. Language around sex, gender, and sexual orientation is also constantly evolving. Moreover, there is a notable dearth of related literature in the pediatric genetics specialty. To best serve our TGEI patients, readers are encouraged to prioritize self-education and commit to life-long learning on this topic.

*Article includes TGEI patient perspectives

This collection was updated on July 3, 2024. The original version published on December 6, 2023 can be viewed here.