Laboratory medicine professionals now have a new guidance to help address the unique challenges of caring for gender-diverse patients following the release of the first comprehensive US recommendations from the Association for Diagnostics & Laboratory Medicine (ADLM).
The guidance, Incorporating Gender Diversity in Pathology and Laboratory Medicine, provides a framework for interpreting laboratory test results influenced by gender-affirming hormone therapy, improving electronic health record (EHR) practices, and supporting more accurate, equitable, and patient-centered care.
It also addresses laboratory and pathology considerations beyond clinical chemistry, including transfusion medicine and autopsy reporting.
Guidance addresses evolving laboratory practice
As gender-affirming care becomes more common, laboratory professionals are increasingly faced with questions about how hormone therapy affects routine laboratory testing. According to ADLM, gender-affirming hormone therapy can alter the results of several commonly ordered tests used to assess cardiac, kidney, and liver health, making it more challenging to determine whether an abnormal result reflects disease or expected physiologic changes.
The guidance also highlights challenges with current EHR systems, which often cannot capture information such as gender identity, sex assigned at birth, and organ inventories. These limitations can affect laboratory interpretation and preventive care by causing patients to miss screening reminders that remain relevant based on the organs they have, such as cervical cancer screening for transgender men.
Developed by a multidisciplinary panel of clinical chemists, pathologists, endocrinologists, and clinicians who care for transgender patients—including Drs. Tiffany A. Thomas, Gabrielle N. Winston-McPherson, Ina Amarillo, Alisha D. Berry, Caroline J. Davidge-Pitts, Sridevi Devaraj, Zil Goldstein, Brad S. Karon, Brooke M. Katzman, Mahmoud A. Khalifa, Hung S. Luu, James H. Nichols, Tracy L. Stockley, Michelle R. Stoffel, Dina N. Greene, and Matthew D. Krasowski—the guidance fills a gap left by previous US recommendations.
While several medical specialty societies have published guidance related to gender-diverse care over the past 15 years, ADLM noted that none have comprehensively addressed the unique challenges facing laboratory medicine and pathology. Because the strongest evidence currently exists in adults who have received gender-affirming hormone therapy for at least six months, the recommendations primarily focus on this patient population.
Key recommendations from the guidance
Among the report's key recommendations is moving beyond a one-size-fits-all approach to laboratory reference intervals. Rather than relying solely on traditional sex-based reference ranges, the guidance encourages clinicians to consider a patient's physiology, hormone status, treatment history, and overall clinical presentation when interpreting results.
For example, although professional societies have recommended a target estradiol concentration of 100–200 pg/mL for transgender women, the guidance notes that published evidence supports considering a broader range alongside patient-specific treatment goals and other clinical factors.
The document also recommends incorporating an organ inventory into the EHR to document the presence or absence of specific organs and gender-affirming surgical procedures. According to the guidance, this could support more precise interpretation of laboratory results and help ensure patients receive appropriate preventive screenings.
Additional recommendations encourage standardized, evidence-based approaches in transfusion medicine for transgender and nonbinary donors and recipients and call for autopsy reports to document both legal sex and affirmed gender identity, use the person's chosen name and pronouns, describe anatomical findings in gender-neutral language, and note evidence of gender-affirming care without speculation.
Toward inclusive lab practices
“The interpretation of laboratory and pathology tests for gender-diverse patients remains an evolving area of medicine,” wrote the document authors. “As the evidence base continues to grow, laboratories, healthcare organizations, and researchers must work together to develop patient-centered approaches that support accurate test interpretation, respectful documentation, and equitable care.”
The guidance also outlines priorities for future laboratory practice and research:
“Future solutions must be creative, flexible, and patient-centered. Customized approaches to laboratory interpretation that account for hormonal status, organ inventory, and treatment history are essential,” the authors noted. “Laboratory results are a primary communication point between medical providers and patients, highlighting the importance of inclusive language across pathology and laboratory medicine.
“Importantly, clinical laboratories and EHR/LIS systems should develop workflows that enable respectful documentation and interpretation of laboratory results for transgender patients.”
The authors also identified opportunities to strengthen the evidence base for gender-affirming care:
“Future studies should aim to identify earlier, more objective clinical markers of feminization and masculinization in both acute and chronic settings… Establishing well-defined thresholds tied to clinical outcomes will help clinicians better assess treatment efficacy and tailor care appropriately.”
This article was created with the assistance of Generative AI and has undergone editorial review before publishing.
