Leveraging Implementation Science to Address Health Disparities in Genomic Medicine: Examples from the Field

Abstract

The integration of genomic data into screen­ing, prevention, diagnosis, and treatment for clinical and public health practices has been slow and challenging. Implementa­tion science can be applied in tackling the barriers and challenges as well as exploring opportunities and best practices for integrat­ing genomic data into routine clinical and public health practice. In this article, we de­fine the state of disparities in genomic medi­cine and focus predominantly on late-stage research findings. We use case studies from genetic testing for cardiovascular diseases (familial hypercholesterolemia) and cancer (Lynch syndrome and hereditary breast and ovarian cancer syndrome) in high-risk populations to consider current disparities and related barriers in turning genomic advances into population health impact to advance health equity. Finally, we address how implementation science can address these translational barriers and we discuss the strategic importance of collaborative multi-stakeholder approaches that engage public health agencies, professional societ­ies, academic health and research centers, community clinics, and patients and their families to work collectively to improve population health and reduce or eliminate health inequities.Ethn Dis. 2019;29(Suppl 1):187-192; doi:10.18865/ed.29.S1.187.

Fidelity to individual components of a standardized labor induction protocol and association with improved obstetric outcomes: secondary analysis of a randomized controlled trial

“…An additional strength of this study is its focus on health disparities, a field onto which implementation science has only recently focused its lens [36][37]. The concepts presented in this work may be transferable to other evidence-based practices designed to reduce such disparities.…”

Strategic Partnerships to Advance Health Equity

“…Mokdad et al demonstrate how the burgeoning health metrics and big data from the Global Burden of Disease Study can inform and help advance health equity research at the global, regional, national, and sub-national levels. 24 Three articles in this journal sup- [25][26][27] Jooma et al caution that the anticipated benefits of genomic research come with the peril that the benefits may not be equitably available to all populations, thus potentially exacerbating health inequities. 25 The authors offer several strategies to help prevent this potential adverse outcome.…”

“…Bentley et al 26 share the exciting scientific developments in genomic research in Africa and make the case for why genomics research must be diverse, inclusive and respectful of local expertise. Roberts et al 27 use case study examples from heart disease and cancer to address current health inequities and related barriers in turning genomic advances into population health impact. They also highlight the importance of collaborative multi-stakeholder engagement in this endeavor.…”

“…They also highlight the importance of collaborative multi-stakeholder engagement in this endeavor. 27 The final section of this journal supplement presents the 2nd Annual Dr. Elijah Saunders and Dr. Levi Watkins Memorial Lecture, 28 abstracts presented at the lecture, and one related original research report on a social network-based intervention to promote physical activity. 29 On behalf of the leadership and staff of the National Heart, Lung, and Blood Institute, the sole sponsor of this journal supplement, I would like to convey our sincere gratitude to the many authors who contributed their expertise to make this endeavor successful.…”

The AutGO Initiative: A Conceptual Framework for Developing Genetics‐Outcomes Research Hypotheses

“…Several reports have been published with an emphasis on the need to use the strategic collaborative engagement of all stakeholders across multiple sectors, including patients, family members, patient advocates, and community leaders, to move implementation science forward. While the majority of reports recognize the need to place the patient and family at the center of genomic medicine implementation, they only provide recommendations, but not actionable plans for building implementation science frameworks [Burton, Adams, Bunton, & Schroder‐Back, 2009; Lemke & Harris‐Wai, 2015; Roberts, Mensah, & Khoury, 2019].…”