Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs

Abstract

Advances in genomic medicine have evolved to include rapid whole genome sequencing (rWGS) in pediatric intensive care settings. Traditionally, genetic testing was conducted in outpatient clinics, with stepwise genetic testing occurring over several years. This delayed the time to diagnosis, making it more difficult to include underrepresented groups, such as those who identify as Black and Latinx. National genetic sequencing programs have also struggled to engage these participants in their studies, leading to a significant disparity in access to new genetic technologies. The purpose of our study was to compare the demographic characteristics of families enrolled in both an Odyssey Program (N = 46), defined as outpatients in the Genetics Clinic who have had prior genetic testing, and a newly implemented rWGS (N = 52) sequencing program. Despite living in a large, ethnically diverse city, our results indicated that parents in the Odyssey program differed significantly from parents in the rWGS program in level of education, family income, and insurance status. For example, 71.5% of parents in the diagnostic Odyssey program had a college or advanced degree, whereas 42% of parents in the rWGS program had this level of education. Family income and insurance also differed, with 48.6% of families in the Odyssey program earning $100,000 or more versus 28.2% in rWGS; 56% of parents in the Odyssey program had private insurance with 26% on Medicaid whereas only 23% of parents in rWGS had private insurance, with the vast majority of children on Medicaid (69%). Thus, our Odyssey program illustrates some of the common pitfalls in implementing genomic testing in an ethnically diverse community, including lack of referrals, travel to outpatient visits, and a cultural mismatch with providers. The successful enrollment of underrepresented groups in the rWGS program demonstrates that given the opportunity to participate in genetic testing, families are interested and aware of the potential benefits of this testing for their child. As genomic sequencing transitions from outpatient to inpatient settings, an opportunity arises to close the health disparity gap. Recommendations for implementing rWGS in pediatric, intensive care settings that address the common barriers faced by underrepresented families are discussed.

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

“…Variation in the reason for referral was also observed, with important implications for referral patterns and evidence of referral bias, where conditions such as hypermobile Ehlers-Danlos syndrome should not be concentrated in those with higher neighborhood resources, though referrals for these conditions were enriched in this way. Our results are also consistent with prior research that has shown that people who attend a genetics clinic visit tend to have higher levels of education and income, and are less likely to identify with a minoritized population 26 . Engagement in research studies for genetic diagnosis has also been found to be lower for populations with historically poor access to healthcare.…”

Perspectives on Spanish language concordant cancer genetic counseling sessions from the Spanish‐speaking population

“…Participants made it clear that genetic testing education and risk assessment was desired information, and these individuals were just not aware of this service prior to speaking with a GC. This has previously been documented in the genetic counseling literature on Black non‐Hispanic individuals who had similar uptake of genetic counseling compared to White non‐Hispanics; the disparity though was in the physician referral rates between the two groups (Peterson et al, 2020), a finding demonstrated in other studies (Conley et al, 2020; Gómez‐Trillos et al, 2020; Hussain et al, 2020). Efforts to increase awareness of genetics services in Spanish‐speaking populations, and more generally in all underrepresented populations, is an actionable and ethical imperative that may lessen the well‐documented disparities (i.e., access, cancer incidence and outcomes, etc.)…”

African American Nurses' Perspectives on Genomic Medicine Research

“…However, more research is needed to determine how these strategies can be applied to engage AA subpopulations with differing cultures, medical conditions, beliefs, and preferences. 18 NIH All of Us Research Program investigators reported that, as of July 2019, underrepresented populations compose more than 80% of persons from whom biospecimens have been obtained for research, exceeding their program target of 45%. 19 However, the percentage of biospecimens obtained from AA populations was not explicitly stated in this report.…”