In recent years, there have been strong grassroots efforts in the genetics community to draw attention to the care needs of the LGBTQIA+ community. However, due to the lack of practice resources pertaining to the care of the transgender, gender diverse, and intersex (TGDI) communities, we are missing clinically important information needed for genetic risk assessment and contributing to patient harm. At least 5% of young adults in the US identify as transgender or non-binary, and approximately 1.7% of the world population is intersex, each representing massive communities of people that genetic counselors are not sufficiently prepared to serve. With the history of eugenics practices targeting the LGBTQIA+ community, as well as genetics being commonly cited in anti-TGDI legislation, trust with the LGBTQIA+ community continues to be broken. It is time for genetics organizations to push back against the marginalization, discrimination, and political targeting of the LGBTQIA+ community to create systemic change.

Increasing Discrimination in Legislation

Over the past several years there have been an unprecedented number of bills introduced that attack LGBTQIA+ rights; per the ACLU, over 491 bills (as of 6/1/2023) have been proposed across 46 states. While not all of these bills become law, they each pose substantial harm to the LGBTQIA+ community. Common targets for these bills include preventing access to gender affirming healthcare, criminalizing gender affirming treatment for transgender youth, weakening, or eliminating anti-discrimination laws, preventing transgender people access to sports and public restrooms, and banning educators from teaching on LGBTQIA+ topics. It is common for these bills to falsely conflate sex chromosomes with sex and gender, weaponizing genetics against TGDI communities. In short, these pieces of legislation are being used for eugenics practices against the TGDI communities. Genetics organizations have remained silent at the misuse of genetics in this way, despite public calls that urge organizational action. It is high time that genetic counselors take steps to stand against this harmful legislation.

Insufficient Practice Resources and Guidelines

It is well known that TGDI people experience medical discrimination and abuse. Several professional societies have endorsed position statements, practice guidelines, and education on LGBTQ+ health including: The American College of Obstetricians and Gynecologists (ACOG),  The American College of Radiology (ACR), The American Society of Clinical Oncology (ASCO) and The Society of Gynecologic Oncology (SGO). The National Society of Genetic Counselors (NSGC) published a recent revision to its standardized pedigree nomenclature practice resource, with the goal of respecting individual differences and identities and maintaining clinically meaningful information. However, beyond these long-awaited updates, little other guidance on care for TGDI individuals exists in the genetic counseling realm. Currently, the only other resources that acknowledge and address LGBTQIA+ patient care in genetic counseling has been through grassroots efforts from community members and their allies, such as through NSGC conference presentations and recent publications.

Genetic counselors have reported feeling underprepared to counsel TGDI patients in clinical practice, such as with risk assessment in cancer and cardiac clinics. / Moreover, genetic counselors have noted erasure of TGDI communities with fetal sex prediction via noninvasive prenatal screening. In addition, genetic counselors employed by commercial laboratories have acknowledged the need for increased standardization for gender inclusivity in patient-facing materials such as requisition forms, genetic testing reports, and marketing materials. Genetic counselors need guidance, such as practice resources, to correct the suboptimal access and care that our LGBTQIA+ patients currently experience.

A Call to Action

Bureaucracy has prevented necessary and timely statements and resources to give support and provide comprehensive care to TGDI people. We call for:

1. Position statements that clearly support the TGDI communities, describe how sex chromosomes are not the sole determinant of sex nor gender and highlight how genetics should not be used in legislation to bolster false bio-essentialist views of sex and gender determination.

2. Practice resources on gender-and-sex inclusive and -affirming genetics practices.

As a genetics community, we cannot claim to accept and celebrate all people when we lack fundamental knowledge to care for TGDI people and remain silent about modern day eugenics practices against these communities. Silence is complicity. Organizations have more power to create systemic change than individuals do, and we call for genetics’ organizations such as The American College of Medical Genetics (ACMG), The American Society of Human Genetics (ASHG) and NSGC to act now.

Kimberly Zayhowski, MS, CGC (she/her) works as a genetic counselor, researcher, and assistant professor in Boston, MA.

Diane R. Koeller, MS, MPH, CGC (she/her) is a clinical and research cancer genetic counselor in Boston, MA. She is co-chair of the NSGC Cancer SIG Gender-Inclusive subcommittee.

Lauren Giannetti Sferrazza, MS, CGC (she/her) is a National Oncology Medical Science Liaison. She is the co-chair of the NSGC Lab and Industry SIG and the secretary of the Human Genetics Association of NJ.

Andy Cantor, MS, LCGC (she/they/he) is a reproductive clinical genetic counselor in Brooklyn, NY, and a trainer on trans and non-binary competency for the genetic counseling community and beyond.

Leah Zaretsky, MS, CGC (she/her) works as a cancer genetic counselor and course instructor in New York, NY.

Victoria Groner, MS, CGC (she/her) is a clinical and research cancer genetic counselor in New York, NY.

Michelle Moore, MS, CGC (she/her) is a senior genetic counselor with experience in industry, genomic medicine, prenatal, cancer, pediatric, adult, and metabolic genetics in both the United States and the United Kingdom. She is actively involved in the NSGC as a contributing member to many special interest groups (SIG) and was a previous member of the NSGC ethics committee and previous chair of the CTD SIG.