Mind the gap: resources required to receive, process and interpret research-returned whole genome data

Abstract

Most genotype-phenotype studies have historically lacked population diversity, impacting the generalizability of findings and thereby limiting the ability to equitably implement precision medicine. This well-documented problem has generated much interest in ascertainment of new cohorts with an emphasis on multiple dimensions of diversity, including race/ethnicity, gender, age, socioeconomic status, disability, and geography. The most well-known of these new cohort efforts is arguably All of Us, formerly known as the Precision Medicine Cohort Initiative Program. All of Us intends to ascertain at least one million participants in the United States representative of the multiple dimensions of diversity. As an incentive to participate, All of Us is offering the return of research results, including whole genome sequencing data, as well as the opportunity to contribute to the scientific process as non-scientists. The scale and scope of the proposed return of research results are unprecedented. Here, we briefly review possible return of genetic data models, including the likely data file formats and modes of data transfer or access. We also review the resources required to access and interpret the genetic or genomic data once received by the average participant, highlighting the nuanced anticipated barriers that will challenge both the digitally, computationally literate and illiterate participant alike. This inventory of resources required to receive, process, and interpret return of research results exposes the potential for access Terms of use and reuse: academic research for non-commercial purposes, see here for full terms. https://www.springer.com/aamterms-v1

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research

“…Since diversity in PMR cohorts is essential for racially/ethnically relevant findings to emerge, RoR has also been suggested as an incentive for research participation [4], increasing the odds that underrepresented minorities will enroll into PMR in exchange for data that may not otherwise be available to them. As scholars have suggested, while RoR builds on "pop cultural curiosity of genetics" and a high interest in learning personal disease risk information [29,30], this practice may serve as a trust-building measure [17], a step toward reversing the underrepresentation of racial and ethnic minorities in genomic research [31][32][33][34][35][36]. However, these goals and the potential for PMR to translate into therapeutic and preventive care measures are only likely to be achieved if all potential research participants share this interest.…”

Racial Disparities in Breast Cancer and Genomic Uncertainty: A QuantCrit Mini-Review

“…In particular, the enrollment of racial and ethnic minorities will be a priority. With the trust of this diverse cohort of potentially 1 million All of Us volunteers, researchers are beholden to ensure equity by granting individual access to research findings and genetic testing results as an incentive to participate (Crawford et al, 2019). Web-based tools, like My46 (Tabor et al, 2017), will be made available for non-scientists to manage their genetic testing results.…”

“…Genetic testing can provide powerful predictive information in the fight against breast cancer but there are many ethical, legal, and social issues to consider. A consequence of encouraging disparate populations to be genetically tested may be the proliferation of private and open source databases with genomes of diverse ancestries, widening privacy concerns to an even greater number of participants and their relatives (Crawford et al, 2019). African American women may have specific concerns about 'genetic' discrimination, stigmatization, and personal identifiability (Botkin et al, February 7;Catz et al, 2005).…”

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

“…[1][2][3][4] Clinical practice, research studies, and consumer-directed commercial offerings allow greater availability to ES/GS data than ever before, although with noted differences in uptake based on demographic factors. 5,6 It is important to consider how this emerging shift toward greater availability of ES/GS testing will change genomic medicine.…”