Abstract
BackgroundPopulation-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry.MethodsWe initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results.ResultsIn the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results.ConclusionsThe addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.
Highlights
Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions
Three conditions are designated by the Centers for Disease Control and Prevention (CDC) as Tier 1 genomic applications having the most evidence to support their early detection and intervention: hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH) [3]
The majority replied that they definitely (73.9%) or probably (15.9%) still would have enrolled into BioMe if genomic results were returned as part of the program, and the rest (10.1%) were unsure (Additional File 1: Fig. S2A)
Summary
Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. Much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. In the 5 years, genomic data for over 60 million patients is expected to be generated in biobanks in health systems globally [8] Some of these biobanks are built with or have pivoted toward a regulatory structure enabling the return of results to participants [9]. Most biobank programs that return genomic results are doing so in health systems serving predominantly European (EA) ancestry patients [1, 10]. As large-scale genomic and precision medicine research efforts, such as the All of Us Research Program [11], prioritize the engagement of diverse populations, it is increasingly important to evaluate approaches to returning individual genomic results to these participants
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