Examining the Equitable Integration of Genomics in Health Care and Society

National Human Genome Research Institute

Investigators

Linked publications & trials

Abstract

With rapid advancements in genomic research, we are at a point where curative genetic therapies (gene therapy and gene editing) are being used in clinical trials. 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. One of the main concerns from these focus groups was the lack of high quality, accessible information available to the public on gene therapy. To address this need, we conducted a stakeholder-engaged study to create, informative, educational materials for SCD gene therapy. The study included the engagement of SCD gene therapy stakeholders (i.e. industry representatives, researchers, patient advocates, and individuals living with SCD) with the goal to develop and create these necessary patient education materials and study the processes of engagement. We continue to study the social networks and power dynamics that might have influenced this meeting. In addition, we are examining the development of partnerships with community-based organizations and advocacy groups. To understand how genomic information and services are being used in clinical care with minority and low-resource populations we have conducted a study of attitudes and views of the use of noninvasive prenatal testing (NIPT) to screen for sickle cell disease and sickle cell trait. We conducted a qualitative study of 40 Black women including 19 with sickle cell disease on their views on the use of NIPT to screen for sickle cell disease. The study found that the women had different views, but some were concerned with psychological risk. Examining the equitable integration of genomics in health care and society project includes studying the utility of race and ethnicity as population descriptors in genomics research studies. Correspondingly, we investigated 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. Examining the impact of mistrust on biomedical research and healthcare through the validation of the Institutional Medical Mistrust Scale to better understand issues of public trust in healthcare and government organizations. We conducted a study using a nationally representative sample.