Building a better foundation of knowledge to fully realize the promise of precision medicine will require conducting and reporting human genetics research, including genome-wide association studies (GWAS) , in a sex-aware manner. As a preliminary survey of knowledge gaps, challenges, and opportunities in this regard, ORWH convened the GWAS, Sex, and Chromosomes Think Tank, which discussed the following five topics:
- Specific technical and methodological hurdles affecting a more thorough consideration of the sex chromosomes and sex as a biological variable (SABV) in GWAS.
- Broader topics and conceptual issues affecting a more thorough consideration of SABV in GWAS.
- Limitations and advantages of analyzing older GWAS datasets for sex effects and associations on the sex chromosomes.
- Long-term aspirations for understanding how sex and the sex chromosomes influence the genetic architectures and genetic risks of human disease.
- Near-term opportunities (i.e., potential next steps) to better understand how sex and the sex chromosomes influence the genetic architectures and genetic risks of diseases.