Please note all views expressed is the article are those of the authors, not their employers.
A 2021 NSGC webinar, Beyond the Binary: Gender Diversity in Genetic Counseling, presented by Kimberly Zayhowski and Tala Berro inspired a group of five laboratory genetic counselors (GCs) to explore making genetics labs more inclusive for gender-diverse and intersex people. This group includes GCs from American and Canadian labs, large reference and small academic labs, and cytogenetics and molecular labs. Although labs will need to address many areas to be truly inclusive, this article focuses on gender inclusivity and describes the barriers and issues encountered or anticipated by the authors. It’s meant to prompt a larger discussion, not provide finalized solutions.
The laboratory information system (LIS) may influence many of these decisions. The capability of the LIS may be limited or may be shared with clinics or non-genetics labs, where requirements may differ.
Ideally, labs should only collect clinical or demographic information through test request forms (TRFs) which is required by regulation or necessary for accurate interpretation and reporting.
- CLIA (42 CFR §493.1241[c]) and CAP (GEN.40750) both require TRFs to include patient sex but don’t specify sex assigned at birth or sex on health insurance. Labs may need to ask for both. Ideally, labs should only collect clinical or demographic information through test request forms (TRFs) which is required by regulation or necessary for accurate interpretation and reporting.
- In labs testing sex chromosomes or sex-linked genes, discordance between test results and sex per the TRF usually prompts an investigation into potential sample switch, unless sex assigned at birth is known and concordant with results.
- Insurance pre-authorization might be denied for prenatal testing if “male” is checked on the TRF for a transgender man.
- Labs directly involved in billing often require the sex listed on health insurance.
- CLIA and CAP both require TRFs to include patient name but don’t specify legal name or chosen name. Labs need to know a patient’s legal name as it appears in their medical record.
- Labs may want to collect gender identity, pronouns, and chosen name, depending on downstream processes like reporting of patient-directed testing results and clinical counseling services.
- Sexual orientation should not be collected on a TRF.
Demographics included on reports serve to identify the patient to the lab and the ordering provider and must meet regulatory requirements. Most lab reports include a field labeled “sex” or “gender”; however, CAP only requires patient name and another unique identifier (GEN.41096), and sometimes date of birth (CYG.31875). Including sex and gender demographics is disrespectful to the patient when inaccurate and may lead to outing the patient if they share their report. Labs should consider limiting demographic fields on reports to those required.
Reports might also reference a patient’s sex or gender in the interpretation section, and standardized terminology often inappropriately conflates the two. Below are some of the complex issues identified by the authors.
- Cytogenetic test results typically refer to “male” and “female” karyotypes, although sex chromosomes don’t solely determine sex assigned at birth. One option is to describe the sex chromosomes identified, e.g., “normal karyotype with two X chromosomes.”
- Some reports provide cancer risk information that is dependent on an individual’s assumed organs, for which the patient’s sex/gender listed on the TRF is typically used as a proxy. We suggest reevaluation of this practice to better represent all patients. One option is to describe risk by organ type only, e.g., “the risk of ovarian cancer.” Further research is needed to accurately inform cancer risks for people who have pursued medical gender affirmation.
- Description of inheritance often uses gendered language, e.g., “maternal” and “paternal.” However, genetic changes may be inherited from anonymous donors or people who don’t intend to parent the child, and a gender diverse person carrying a pregnancy may not identify with the term “mother.” “Egg/sperm donor” have existing connotations suggesting a non-parenting relationship. “Egg/sperm-derived,” “egg/sperm provider/source/contributor,” and “gamete-of-origin” are potential alternatives. This nuanced issue needs further consideration.
- Some well-established medical terminology is gendered. For example, “maternal cell contamination” implies that the person carrying the pregnancy provided the egg and identifies as the mother to the fetus. More inclusive options like “gestational carrier contamination” or “non-fetal cell contamination” could be considered.
Changing ingrained medical terminology often triggers resistance. Updates require careful thought, multidisciplinary collaboration, and effort from both providers and patients. We strongly encourage continued conversation amongst a more diverse group of healthcare professionals and the gender-diverse and intersex communities at large. As a field, we need more research and guidelines on this topic.
Definitions related to this topic can be found at: https://transstudent.org/about/definitions/