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:

1. Specific technical and methodological hurdles affecting a more thorough consideration of the sex chromosomes and sex as a biological variable (SABV) in GWAS.
2. Broader topics and conceptual issues affecting a more thorough consideration of SABV in GWAS.
3. Limitations and advantages of analyzing older GWAS datasets for sex effects and associations on the sex chromosomes.
4. Long-term aspirations for understanding how sex and the sex chromosomes influence the genetic architectures and genetic risks of human disease.
5. 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.

Download the summary of the Think Tank discussion to read expert perspectives in these five topic areas