Circulation: Cardiovascular Quality and Outcomes | 2021
Addressing Gaps in Racial/Ethnic Representation in Familial Hypercholesterolemia Registries: Implications and Recommendations for Equitable Access to Research and Care.
Abstract
February 2021 140 © 2021 American Heart Association, Inc. Familial hypercholesterolemia (FH) is prevalent in ≈1 in every 250 to 300 individuals and affects all races and ethnicities.1 Heterozygous FH—often caused by a single pathogenic variant in the LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), or PCSK9 (proprotein convertase subtilisin/ kexin 9) gene—is associated with elevated low-density lipoprotein-cholesterol (LDL-C) levels and a 10to 20-fold increased risk of premature atherosclerotic cardiovascular disease.1 More than 90% of those affected remain undiagnosed and certain subpopulations, such as French Canadians, Afrikaners, and Christian Lebanese, experience FH at a higher frequency due to the presence of a founder effect.1,2 Many individuals with FH lack access to genetic testing, family cascade screening, as well as prompt treatment with high-intensity lipidlowering therapies. Despite advances in research and clinical practice, a significant gap remains in our understanding of the unique burden of FH among non-White individuals both in the United States and worldwide.1 Therefore, we aim to draw attention to this contemporary knowledge and care gap and to provide recommendations for meaningfully increasing diversity in national and international FH studies and registries. The critical importance of racial/ethnic participation and representation in clinical research has been previously described and encompasses enhancing the external validity of population-based findings, improving accuracy of analyses in understudied and underrepresented subgroups, and driving equity in the provision of clinical care. In 2019, Clark et al3 reported on a significant lack of representation of racial and ethnic minority populations in cardiovascular and other clinical trials, examining barriers to patients’ willingness to participate in research trials, and offering strategies to increase diversity and representation in biomedical research. The authors described perceived and structural barriers to diverse enrollment, including medical mistrust, stigmatization, and time/resource constraints along with a lack of awareness, information, and comfort with the clinical research process, factors that have been largely attributable to unethical research endeavors, and engrained forms of structural racism in medicine.3 In addition to enhancing diversity of healthcare practitioners and clinical research staff, potential strategies that have been identified to begin addressing the prolonged underrepresentation of non-White individuals in cardiovascular trials include creating an inclusive implementation checklist that involves building meaningful trust, ensuring participant safety, highlighting available support, providing clear information for patient-centered shared decision making, addressing individuals’ perceived constraints, and leveraging a multiple stakeholder approach to communicate a common goal.3 Our Figure provides a brief snapshot of the advantages conferred by meaningfully enhancing diverse racial/ethnic representation in FH studies and registries along with recommendations for steps forward. Circulation: Cardiovascular Quality and Outcomes