Examining the Equitable Integration of Genomics in Health Care and Society

National Human Genome Research Institute

Investigators

Linked publications, trials & patents

Abstract

With rapid advancements in genomic research, we are at a point where curative genetic therapies (gene therapy and gene editing) are on the horizon. The first somatic CRISPR gene editing clinical trials for sickle cell disease and beta-thalassemia have opened. We use mixed-methods to study the views and opinions of SCD community stakeholders (adults living with SCD, parents of individuals with SCD, and SCD providers) and conduct normative research on somatic and germline gene editing which builds on this foundational qualitative study. We conducted 15 focus groups (six groups of adults with SCD; six groups of parents with a child with SCD and three groups of hematologists caring for patients with SCD) in seven US states. All three stakeholder cohorts were hopeful that gene editing could be the overdue, impactful treatment for SCD, often referencing the lack of treatments available for SCD compared to other diseases. Patients and parents discussed willingness to support future CRISPR-based clinical trials if suffering and social isolation are attenuated as a result. Four broad themes emerged from this work: (1) factors influencing ones decision to participate (e.g. improve health of individual or child; contribute to science; and help other individuals with the disease), (2) information requirements for decision making (e.g. clinical data, track record of research) (3) patient and parent preferences for soliciting guidance (e.g. primary physician) and (4) recommendations for the research community on meaningful engagement (e.g. patient centric studies; quality education resources and transparency). In 2018 we published the first analyses from this study in Genetics in Medicine. This project also examines ancestral diversity in genomic studies and databases and how genomic research will impact equitable access to genomic medicine for ancestrally diverse patient populations. In 2018 we published in Health Affairs a study investigating the ancestral diversity in disease specific studies within the Genome Wide Association Studies (GWAS) Catalog and Genotypes and Phenotypes database (dbGaP). We reviewed 2,817 genome-wide association studies from the GWAS catalog, of which 413 were cancer-related studies. The remaining 2,404 genome-wide association studies were not related to cancer. Of the non-cancer studies, 71% were of populations of European descent, 20% were of Asian populations, and 8% were of underrepresented minority groups. The project is also interested in studying the utility of race and ethnicity as population descriptors in genomics research studies. Correspondingly, we are investigating the historical and current sociological context of race and ethnicity in genomics research. This includes an examination of the history of the concept of ethnicity, with a specific focus on historical developments that can inform current practices surrounding population descriptors in genetics.