Navigating sexual orientation and gender identity data privacy concerns in United States genetics practices

Abstract

Recent federal efforts, such as those by the Centers for Medicare & Medicaid Services, have expanded sexual orientation and gender identity (SOGI) data collection to improve healthcare equity, and several states mandate regular SOGI data collection in healthcare (examples in Hunter, 2021; Oregon Health Authority, 2023; Tsai, 2023). Best practice recommendations in genetics healthcare also encourage SOGI data collection (Bland et al., 2024; Jamal et al., 2024). SOGI data allow the provision of accurate, culturally responsive genetics care. For example, healthcare professionals' (HCP) knowledge of patients' gender-affirming care facilitates accurate cancer risk assessments and management (Cortina et al., 2024; Roth et al., 2024; von Vaupel-Klein & Walsh, 2021). Moreover, HCPs respecting patients' identities and family structures promotes trust and psychological safety (Call et al., 2021; Huser et al., 2022; McCann & Brown, 2018; Roth et al., 2024).

However, as we enter the second Trump administration, SOGI data documentation has concerning implications in the United States socio-political landscape. The previous Trump administration enacted overtly anti-LGBTQ+ (lesbian, gay, bisexual, transgender, queer/questioning, etc.) policies, including banning transgender and gender diverse (TGD) individuals from military service, attempting to define gender strictly based on sex assigned at birth, and rolling back LGBTQ+ patient protections granted during the Obama administration (Green et al., 2018; Memorandum on Military Service by Transgender Individuals, 2017; Nondiscrimination in Health and Health Education Programs or Activities, Delegation of Authority, 45 CFR 92, 2020). Despite re-expansion of LBGTQ+ federal legislative protections under the Biden administration, far-right anti-LGBTQ+ legislation has increased at the state level (American Civil Liberties Union, 2024; Restar et al., 2024). The 2024 Trump campaign and those of allied Congressional candidates promised additional anti-TGD policies, with Republicans spending over $222 million dollars on anti-TGD and anti-LGBTQ advertisements during this time (Simmons-Duffin, 2024). The Trump administration is expected to prioritize policies targeting TGD individuals early in its tenure, as highlighted in its “Agenda 47” platform, with points including cutting funding to schools teaching “radical gender ideology” and barring “men from women's spaces” (Trump, n.d.). He was recently quoted saying, “It will be the policy of the United States that there are only two genders, male and female” (Monteil, 2024). An upcoming Supreme Court decision (United States v. Skrmetti, Docket No. 23–477, 2024–2025) will decide whether state legislation banning gender-affirming care for minors is legal. This climate exacerbates realistic patient fears that SOGI information could be used for harm (Thompson, 2016). For example, amidst an anti-LGBTQ+ state government in 2023, Vanderbilt University Medical Center (VUMC) released the full medical records of TGD patients to the Tennessee Attorney General during a fraud investigation prompted by right-wing commentary that VUMC billed Medicaid for transgender healthcare (Bacallao, 2024; Senate Finance Committee – Majority Staff, 2024). This incident stoked TGD mistrust and demonstrated the potential for SOGI data weaponization (Kohli, 2023; Lemberg, 2017).

This author team comprises experts – most LGBTQ+ – in genetics healthcare and research who have advocated for inclusive SOGI data collection and usage practices in genetics. However, in the authors' collective experience, TGD patients are increasingly restricting identity disclosure and requesting “off-the-record” disclosure due to fear of the socio-political climate. This commentary explores the ethical implications of SOGI data documentation within genetics in the politically charged atmosphere of the United States.

The Privacy Rule of the Health Insurance Portability and Accountability Act (HIPAA) restricts unauthorized disclosure of patient data but has limitations in safeguarding SOGI data (Clayton et al., 2024). While the US Department of Health and Human Services previously issued guidance that gender-affirming care should be subjected to additional protections for explicit patient consent prior to release, except in limited circumstances (US Department of Health and Human Services (HHS), 2021, 2022), it was vacated by a Texas District Court decision (State of Texas v. Equal Employment Opportunity Commission, et al. Document 74, 1183, 2022). Further, this guidance did not cover SOGI data collected as part of demographics. Without these protections, healthcare institutions may be compelled to release SOGI data—including gender-affirming care data—to government agencies without patient consent. The VUMC case highlights HIPAA limitations, revealing that healthcare institutions may feel obligated to comply with non-subpoena, privacy-compromising government requests.

The lack of robust SOGI data protections in the face of rising political pressures underscores the urgent need for stronger privacy safeguarding of SOGI data from government-directed scrutiny. While the Genetic Information Nondiscrimination Act (GINA) (2008) narrowly protects individuals against health insurance and employment discrimination, it does not protect individuals from having their genetic information used in other ways, such as in law enforcement or government investigations. Some states have more robust genetic protections than the federal provisions of GINA, but these vary widely and it is unclear whether they would protect from inquiries by federal entities (Suter, 2020).

Further, genetic data collected as part of research is not always adequately cared for or protected. Some genetic data, such as sex chromosome composition, polygenic scores, and whole exome sequencing, could be used to query genetic origins of gender identity and sexual orientation in harmful ways and is especially vulnerable to misuse in secondary research datasets (Hamer et al., 2021; Holm & Ploug, 2019; Kraft & Mittendorf, 2024; Maxmen, 2019; Meyer et al., 2023; Rajkovic et al., 2022; Richardson et al., 2019; Sabatello et al., 2022). As others have highlighted, sociobehavioral genomics research is often conducted without appropriate consideration of confounding social variables that may otherwise explain apparent data linkages (Meyer et al., 2023); such research can be used to enact harms against LGBTQ+ and other marginalized communities (Hamer et al., 2021; Holm & Ploug, 2019; Maxmen, 2019; Panofsky et al., 2021; Rajkovic et al., 2022; Richardson et al., 2019). LGBTQ+ individuals have emphasized the need for stringent protections and ethical guidelines (Hammack-Aviran et al., 2022; Rajkovic et al., 2022).

Genetic counseling research data are at particular risk for inquiries by law enforcement as much of this research is not funded by the National Institutes of Health (NIH), meaning that Certificates of Confidentiality – the most robust protection of data – are not automatically granted (Clayton et al., 2024). Even NIH-funded research poses risks; the new NIH data sharing policy, which requires that researchers share data broadly with the public, offers little specific guidance on how to protect individual-level data from re-identification and little data governance guidance for secondary uses of such data (Kraft & Mittendorf, 2024; National Institutes of Health (NIH), 2020; Sabatello et al., 2022; Xia et al., 2023).

The 21st Century Cures Act (2016) directs greater EMR interoperability to facilitate seamless transfer of patient information across healthcare networks and improve care continuity. However, indiscriminate data exchange poses privacy risks. Data exchange-related privacy risks are a known phenomenon recognized by the informatics community as the “interoperability trap” (Arvisais-Anhalt et al., 2023; Zubrzycki, 2022). Once SOGI data are documented in a patient's EMR, it may be accessed by any HCP with an interoperable system (e.g., through Epic's Care Everywhere feature) without the patient's explicit understanding/consent.

SOGI-related data exchange to a health system in a state with anti-LGBTQ+ legislation could expose patients to legal scrutiny. Imagine a scenario where a TGD patient from a TGD-care restrictive state seeks gender-affirming care in another state. Not unlike risks for patients seeking out-of-state abortion and clinicians who provide them, shared EMR systems pose risks to patients receiving and clinicians providing gender-affirming care in legal states, potentially leading to interstate prosecution. Already, states are attempting to restrict out-of-state care for TGD minors; for example, Texas is attempting to investigate families seeking such care under the Texas provision of child abuse, though these investigations are presently blocked by the courts (Abbott v. Doe, No. 03-22-00126-CV, 2024 WL 1286316, 2024; Opinion No. KP-0401, 2022; Tucker & Riess, 2024).

Expanded interoperability related to 21st Century Cures raises privacy concerns that specifically impact LGBTQ+ adolescents, whose confidentiality and access to gender-affirming care are largely dictated by state laws (Arvisais-Anhalt et al., 2023; Sharko et al., 2022; Zubrzycki, 2022). Parents or guardians often have access to their child's EMR – either by default or through adolescent decision for parental/guardian proxy – revealing SOGI-related data, including demographics documentation of gender identity and sexual orientation, as well as reproductive and gender-affirming care. For instance, in states where the age of medical consent is under 18 or in states where the consent of only one parent is required for the provision of such care, access to the medical record by an unsupportive parent could endanger the child's well-being (Campbell, n.d.; Oregon Health Authority, 2019).

Detailed pedigrees are essential for accurate genetic risk assessment, but pedigree documentation of TGD status creates precarity. The National Society of Genetic Counselors (NSGC) recently updated its guideline to a “gender-first” pedigree approach, prioritizing gender over sex assigned at birth (Bennett et al., 2022). While this is a meaningful step toward inclusivity, this guideline recommends capturing sex assigned at birth—thus clearly recording TGD status.

Recent literature recommends documenting TGD family members in pedigrees (Barnes et al., 2020). While we recognize the importance of honoring family members' gender identities and ensuring an accurate assessment, recording this information in medical records must be approached with caution. TGD status documentation is potentially conducted without the family member's consent and could inadvertently place them at risk. Genetics HCPs must therefore balance providing inclusive, comprehensive clinical care with privacy protection responsibilities.

We assert that genetics HCPs, such as genetic counselors and geneticists, should have transparent conversations about privacy and documentation of SOGI status, followed by discussions about how organ systems, hormonal milieu, and surgical history affect care recommendations. Additional demographic factors relevant to genetic counseling, such as country of origin, may warrant similar privacy conversations (Callaghan et al., 2019; Saadi et al., 2020). Others have provided guidance for more inclusive clinical care (e.g., taking organ inventories for all cancer genetics patients to ensure anatomy- and history-based care), benefiting everyone without singling out LGBTQ+ individuals (Berro & Zayhowski, 2023; Bland et al., 2024; Kronk et al., 2022; Motiff et al., 2024; Pratt-Chapman et al., 2024; Ruderman et al., 2021; Schmidt & Rizzolo, 2017; von Vaupel-Klein & Walsh, 2021). Genetics HCPs should prioritize patient autonomy in documentation decisions (e.g., pedigree symbol choices, pronouns, partner(s) inclusion) while still providing comprehensive care recommendations (e.g., genetic risk assessment, screening/management recommendations) to the patient. Where these two may conflict, HCPs should lead with a person-centered approach to decision-making. By documenting relevant clinical information in a way that minimizes risks, genetics HCPs can balance thorough care with safeguarding patient privacy and autonomy.

Regulatory guidelines, such as from the Clinical Laboratory Improvement Amendments (CLIA) (Clinical Laboratory Improvement Amendments of 1988, Title 42, § 493.1241, 2024) and the College of American Pathologists (CAP) (Laboratory General Checklist. GEN.40750, 2020), as well as technical standards from the American College of Medical Genetics and Genomics (Technical Standards for Clinical Genomics Laboratories, 2021) require sex information on test requisitions but do not specify sex assigned at birth versus legal sex. Neither CLIA nor CAP mandates including this information in reports for most tests (Clinical Laboratory Improvement Amendments of 1988, Title 42, § 493.1291, 2024; Laboratory General Checklist. GEN.41096, 2020). For billing purposes, laboratories may request the sex listed on insurance.

Privacy concerns conflict with presumed clinical utility in the practice of “sex-checks” during genetic testing (Dusic et al., 2024). Laboratories often perform quality control-based chromosomal checks against listed sex to detect sample swapping, a practice fraught with limitations. Since “sex-checks” only rule out swapping with someone of a different presumed sex chromosome composition, they are only about 50% effective at swapping detection (most individuals have either XX or XY chromosomes). In samples from intersex or TGD individuals, where chromosomal patterns may not align with binary expectations or requisition-indicated sex, “sex-checks” can reveal information that patients may not want to disclose or may not even know. Other issues with sex-checks and potential alternative quality control measures are further examined in Dusic et al., (2024).

Genetics lab reports frequently include sex and/or gender markers in the report, including sex chromosome composition – even when unrelated to the test performed. As discussed above, interoperability features make this information available across different healthcare systems, and GINA does not adequately protect this information. Sex chromosome data are particularly vulnerable to misuse in states where laws define sex based on genetic characteristics. For example, recent legislation in Montana (SB 458: Define Sex in Montana Law, 2023) defines sex strictly based on chromosomes, gametes, and genitalia present at birth, and echo 2018 Trump administration efforts to define sex in an inappropriately binary fashion based on external genitalia and genetic testing (Jamal et al., 2024). Under such laws, discrepancies between an individual's sex chromosomes, legal sex, and gender identity could place them at risk for legal scrutiny. Further, once this information is entered into interoperable EMRs, it can be readily accessed by outside HCPs. TGD patients may not have disclosed TGD status to their HCP(s) or to family members needing reports for cascade testing. Including this data in reports could lead to care discrimination and/or familial rejection.

Finally, “sex-checks” create risks even when this data are not included in the results report. The absence of federal legal protections means genetics labs could be required to disclose sex chromosome data without patient consent. Furthermore, the growing practice of secondary data usage adds an additional layer of concern in both clinical and direct-to-consumer (DTC) genetic test settings (Hendricks-Sturrup & Lu, 2019; Mladucky et al., 2021). Cases like the “Golden State Killer” identification from DTC databases highlight the potential for genetic data to be used for purposes far beyond the original intent, such as by law enforcement (Guerrini et al., 2018). In 2023, a 23andMe data breach exposed genetic data of 6.9 million users—including targeted information on Chinese and Jewish individuals—underscoring the susceptibility of sensitive data to outside attack (Alder, 2024), a vulnerability also existing in EMRs (Lemberg, 2017). In today's anti-LGBTQ+ climate, additional security measures are an imperative for SOGI and sex chromosome data.

Protecting the privacy of LGBTQ+ patients is a moral imperative to uphold the principle of “do no harm.” Institutions must act now to ensure that sensitive data is used solely for patient benefit and shielded from misuse in a landscape that increasingly targets LGBTQ+ communities.

Kimberly Zayhowski: Conceptualization; writing – original draft; writing – review and editing; supervision. Sarah Roth: Conceptualization; writing – review and editing. M. J. Westerfield: Conceptualization; writing – review and editing. Makenna A. Martin: Conceptualization; writing – review and editing. Kai Blumen: Conceptualization; writing – review and editing. Harris T. Bland: Conceptualization; writing – review and editing. Shelly W. McQuaid: Writing – review and editing. Kathleen F. Mittendorf: Conceptualization; writing – original draft; writing – review and editing; supervision.

KFM's spouse is the owner and operator of Lavender Spectrum Health, a private primary care health organization that predominantly serves the TGD population of the Portland-Vancouver Metro Area (Vancouver, WA, USA), where KFM also provides consultation. KFM reports unrelated institutional salary support from GE Healthcare. KZ has served as a paid consultant for Myriad Genetics, providing expertise on gender inclusivity. The rest of the authors have no conflicts of interest to disclose.