Health equity in the implementation of genomics and precision medicine: A public health imperative

Posted on by Alexis

Muin J Khoury, Scott Bowen, W David Dotson, Emily Drzymalla, Ridgely F Green, Robert Goldstein, Katherine Kolor, Leandris C Liburd, Laurence S Sperling, Rebecca Bunnell

Abstract

Recent reviews have emphasized the need for a health equity agenda in genomics research. To ensure that genomic discoveries can lead to improved health outcomes for all segments of the population, a health equity agenda needs to go beyond research studies. Advances in genomics and precision medicine have led to an increasing number of evidence-based applications that can reduce morbidity and mortality for millions of people (tier 1). Studies have shown lower implementation rates for selected diseases with tier 1 applications (familial hypercholesterolemia, Lynch syndrome, hereditary breast and ovarian cancer) among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. We make the case that a public health agenda is needed to address disparities in implementation of genomics and precision medicine. Public health actions can be centered on population-specific needs and outcomes assessment, policy and evidence development, and assurance of delivery of effective and ethical interventions. Crucial public health activities also include engaging communities, building coalitions, improving genetic health literacy, and building a diverse workforce. Without concerted public health action, further advances in genomics with potentially broad applications could lead to further widening of health disparities in the next decade.

Keywords: Genomics; Health equity; Precision medicine; Public health genomics.

Clinical Genomics: Ending Diagnostic Odysseys & Enhancing Equity in Patient Care Webinar

Thursday, September 22 | 1-3 p.m. ET | Virtual

The White House Office of Science and Technology Policy, in close partnership with the National Institute of Child Health and Human Development, is hosting a webinar on clinical genomics. This event will engage a variety of stakeholder groups, with significant representation from patients and patient organizations, as well as professionals from the genetics community, including genetic counselors, medical geneticists, and researchers along with decision makers from state Medicaid and private insurance plans.

Visit the Office of Science and Technology Policy’s website for more details and to register for this virtual event.

Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population

Posted on by Alexis

Sabrina N. Powell, Grace Byfield, Ashley Bennetone, Annabelle M. Frantz, Langston K. Harrison, Erin R. James-Crook, Heather Osborne, Thomas H. Owens, Jonathan L. Shaw, Julianne O’Daniel, and Laura V. Milko

Recent advances in genomic sequencing and genomic medicine are reshaping the landscape of clinical care. As a screening modality, genetic sequencing has the potential to dramatically expand the clinical utility of newborn screening (NBS), though significant barriers remain regarding ethical, legal, and social implications (ELSI) and technical and evidentiary challenges. Stakeholder-informed implementation research is poised to grapple with many of these barriers, and parents are crucial stakeholders in this process. We describe the formation and activities of a Community Research Board (CRB) composed of parents with diverse backgrounds assembled to participate in an ongoing research partnership with genomic and public health researchers at the University of North Carolina. The mission of the CRB is to provide insight into parental perspectives regarding the prospect of adding genomic sequencing to NBS and collaboratively develop strategies to ensure its equitable uptake. We describe how these contributions can improve the accessibility of research and recruitment methods and promote trust and inclusivity within diverse communities to maximize the societal benefit of population genomic screening in healthy children.

Read the full article in Frontiers in Genetics.

Keywords: genomic sequencing, newborn screening, community research board, engaging parents, stakeholders, public health, equity, accessibility