Top Things to Know: Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples
Published: July 26, 2021
Prepared by Katherine A. Sheehan, PhD
- Historical transgressions against marginalized racial and ethnic groups and Indigenous populations, for example the Tuskegee Study of Untreated Syphilis, along with similar incidents involving other Black and Indigenous people, have resulted in a deep mistrust of research among these marginalized groups.
- In light of these occurrences, several guidelines have been developed to protect the rights of the members of marginalized populations. In the U.S., the Tuskegee Study led to the establishment of the ethical principles of respect, beneficence, and justice for human subject research in the Belmont Report and later in the Federal Policy for Protection of Human Subjects.
- The purpose of this scientific statement is to assist in building equity in cardiovascular genetic and genomic research by providing an overview of ethical guidelines, discussing the social and genetic complexities involved in identification of race, ethnicity, and indigeneity, presenting special considerations regarding genetic and genomic research, and outlining practical considerations for conducting this type of research with marginalized populations.
- The Statement suggests naming the critical principles of respect, honesty, justice and fairness, reciprocity or assurance of mutual benefit, and care for the individual and community, as parts of plans to address genetics and genomics research inequities, as these are elements that ethical human subject treatment guidance have in common around the globe.
- Issues of identification of race, ethnicity and indigeneity are complex and highly contested, including connections to place, self-identification and group acceptance, yet race and ethnicity are social and political constructs that may or may not correlate with geographical ancestry or human genomic variation at a population level.
- To improve understanding of how biological pathways are influenced by social and demographic factors, healthcare access and neighborhood environment must be distinguished from genetic ancestry. While useful in some contexts for understanding social determinants, it is important to recognize that self-identified race and ethnicity cannot be used to predict individual genetic or genomic health status.
- Approximately 79% of genome wide association study participants are of European descent, yet constitute only 16% of the world’s population, leading to systematic bias in genomic algorithms, limiting identification of gene variants that may influence cardiovascular health status in other populations and pointing to the need for new, high-quality human reference genomes.
- Efforts to increase the representation of underrepresented groups in genetic and genomic research can benefit from collaboration between researchers and community stakeholders, taking into account cultural values and interests, ensuring informed consent of participants, and transparency around data analyses and dissemination of findings.
- Three principles for the ethical use of genomic data from Indigenous communities and maintenance of data sovereignty include building trust, enhancing accountability, and improving equity to ensure that benefits are equitably shared.
- Inclusion of marginalized racial and ethnic groups and Indigenous peoples in genetic and genomic cardiovascular research is important to advance equitable prevention and treatment of heart disease. Overcoming historical injustices and current barriers to research can be achieved through establishment of trusting partnerships, commitment to ethical principles, investment in training investigators from these groups and greater diversity in funding organizations’ decision-making bodies.
Citation
Mudd-Martin G, Cirino AL, Barcelona V, Fox K, Hudson M, Sun YV, Taylor JY, Cameron VA; on behalf of the American Heart Association Council on Genomic and Precision Medicine; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology. Considerations for cardiovascular genetic and genomic research with marginalized racial and ethnic groups and Indigenous peoples: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2021;14:e000084. doi: 10.1161/HCG.0000000000000084