Standardizing demographic data in clinical genomics: A call for inclusive, evidence-based guidelines

Clinical genetics organizations have a responsibility to assess their practices and procedures using a lens of diversity, equity, and inclusion. Despite this responsibility, there is a dearth of guidance about these principles from regulatory and professional organizations that laboratories typically rely on for direction. As a result, the collection of patient demographics—such as sex, gender, race, ethnicity, and ancestry—by genetic testing laboratories remains non-standardized and lacks consensus.

Furthermore, evidence for the precise scientific value of this information on laboratory workflows and outcomes is limited. Several studies have called for the creation of consensus guidelines to help clinicians and researchers responsibly collect sex, gender, race, ethnicity, and ancestry (REA) data (1), aiming to reduce potential harms from confusing or inaccurate language and minimize discrimination against transgender, gender diverse, and intersex populations (2).

To inform guideline development, we conducted a multi-step study to assess the ways in which clinical genomics laboratories collect and utilize sex, gender, and REA data.

Test request form review: What data are collected?

To evaluate current practices, we first reviewed 40 molecular genetic, cytogenetic, and biochemical test request forms (TRFs) from 20 U.S.-based clinical laboratories that perform genetic testing for pediatric populations. The review included both academic medical centers and independent laboratories. Each form was reviewed for demographic field content related to patient sex, gender, and REA.

A call for change in clinical genomics data collection Recommendations for individual laboratories: Conduct an internal review of test request forms (TRFs), focusing on demographic data fields. Determine the minimum set of patient demographic information required to ensure accurate testing and reporting. Use clear, specific, consistent language with a focus on diversity, equity and inclusion across all TRFs (molecular, cytogenetic, biochemical, etc.). Recommendations for national collaboration: Undertake further studies to assess how patient demographic data are collected and used by genetics laboratories. Identify barriers to implementing updates in demographic terminology and propose solutions to facilitate change. Develop guidelines to standardize patient demographic information collection and language used on TRFs.

 

The findings revealed significant variability. Some forms included structured fields with predetermined options, while others allowed free-text entries. A few forms did not include gender or ancestry fields at all. Differences in terminology were observed not only across laboratories but also within the same organization’s forms. The inconsistent and, at times ambiguous, terminology (Figures 1 and 2) underscores the need for standardized and inclusive language in TRFs to improve clarity and uniformity.

Survey and interviews: How is the data used?

To explore data usage, we developed a survey and distributed it via email to laboratory directors and genetic counselors at 30 U.S.-based laboratories offering clinical exome and genome sequencing. The survey received 11 responses (37% response rate), with respondents representing genetic counselors, directors, managers, administrators, and variant scientists at commercial, hospital-based, and academic laboratories. Follow-up phone interviews were then conducted with 10 respondents.

According to survey responses, the TRF is the most common source of patient sex, gender, and REA data. All respondents reported that their laboratories collect patient sex, while only two reported collecting gender data. Ten respondents reported that patient sex is used as a quality assurance metric in their laboratory; additional common uses include variant interpretation and customized report content.

Eight laboratories reported collecting REA data, but only three reported using these data routinely. There was significant variability in the terms used and the sources of the data. On TRFs, ethnicity was the term used most frequently to collect REA data. Among those who reported using REA data, common applications included variant interpretation, customized report content, and post-testing data analyses.

Survey participants cited several factors driving their data collection practices, including clinical utility, software capabilities, regulatory mandates, and historical precedent. Seven laboratories made recent changes to how they collect and use of patient sex and gender data, while four reported updates in REA data collection processes.

The follow-up phone interviews were particularly informative for insight into the impact of discontinuing collection of specific demographic data. Three prominent themes emerged.

One is the reliance on sex as a quality assurance measure — no sites indicated that an alternate quality assurance method was being implemented. Multiple participants had concerns about the reliability of patient sex, gender, and REA data provided on TRFs, specifically noting risk for term conflation and limitations of REA self-report. Participants also reported that the lack of published guidelines is a barrier to making changes to lab TRFs or other processes related to collection and use of patient REA data.

This study highlights a ubiquitous reliance on patient sex for quality assurance and minimal use of gender data in clinical genomics laboratories. Additionally, the variability in REA data collection and the minimal utilization of such data in most laboratories underscore the need to reconsider using patient, clinical, and laboratory resources to collect it at all.

These findings support the development of clear, evidence-based guidelines aimed at standardizing demographic data collection and promoting inclusive language practices by clinical genetics laboratories.

Sarah Clowes Candadai, MS, CGC, is a genetic counselor and program manager of PLUGS in the department of laboratories at Seattle Children’s Hospital in Seattle, Washington. +Email: [email protected]

Darci L. Sternen, MS, LCGC, is a genetic counselor at Seattle Children’s Hospital in the department of laboratories and with PLUGS in Seattle, Washington. +Email: [email protected]

Katie Golden-Grant, MS, LCGC is a Seattle-based genetic counselor with the Clinical Genome Center at Rady Children’s Institute for Genomic Medicine. +Email: [email protected]

Katrina (Kate) Kotzer, MS, LCGC, is a genetic counselor at Mayo Clinic in the Department of Laboratory Medicine and Pathology. +Email: [email protected]

References

1. Hubbel A., Hogan E., Matthews A., Goldenberg A. North American genetic counselors' approach to collecting and using ancestry in clinical practice. J. Genet Couns 2023; doi: 10.1002/jgc4.1655.
2. Dusic EJ, Powers LN, Clowes Candadai SV, Fullerton SM. Policy and laboratory practice: How quality control procedures for genetic testing perpetuate biological essentialism and discrimination against transgender, gender diverse, and intersex people. J. Genet Couns 2024; doi:10.1002/jgc4.1925.