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Path to Health Equity and Improved Outcomes through Inclusive Sex and Gender Data Collection in Genomic Testing.

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Genomic laboratory practices often overlook the unique needs of sexual and gender diverse (SGD) individuals. This study identifies gaps and offers recommendations to improve care and health equity for the SGD community.

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Area of Science:

  • Genomics and Molecular Pathology
  • Health Equity
  • Sexual and Gender Diverse (SGD) Health

Background:

  • Increasing demand for healthcare services among sexual and gender diverse (SGD) individuals.
  • Existing disparities in genetics and genomics research and practice for SGD populations.
  • Need for equitable standards of care within the broader healthcare system.

Purpose of the Study:

  • To assess current genomic laboratory practices regarding the collection, interpretation, and reporting of sex and gender identity data.
  • To identify knowledge and practice gaps in genomic testing for SGD individuals across preanalytical, analytical, and postanalytical phases.
  • To provide recommendations for enhancing inclusive processes and improving health outcomes for the SGD community.

Main Methods:

  • Survey data collection from genomic laboratories on patient sex and gender identity handling.
  • Review of existing literature on SGD care and genomic practices.
  • Analysis of collective professional experience by the Association for Molecular Pathology Working Group.

Main Results:

  • Survey data reveals inconsistencies in how sex and gender identity are managed in genomic laboratory workflows.
  • Identified significant knowledge and practice gaps in all phases of genomic testing concerning SGD individuals.
  • Existing guidelines and recommendations for SGD care are not fully integrated into genomic practices.

Conclusions:

  • Genomic laboratories require enhanced strategies to ensure affirmative and inclusive processes for SGD patients.
  • Improvements in data collection, interpretation, and reporting are crucial for test quality and patient outcomes.
  • Addressing identified gaps will advance health equity for sexual and gender diverse individuals within genomic medicine.