ArticleGenome medicine2021
Implementing genomic screening in diverse populations.
Article in Genome medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Global Biobank Meta-analysis Initiative: How can global health benefit by its use?Journal of global health · 2023Pooled it
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- Genetic architecture of postpartum psychosis: from common to rare genetic variation.Molecular psychiatry · 2026Article
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Early-Onset Colorectal Cancer in Neglected Populations: Would South Africa's Strategies Improve Screening, Management, and Genetic Insights Worldwide?Journal of racial and ethnic health disparities · 2026Review
- Parental and public views on genomic newborn screening: a systematic review.European journal of human genetics : EJHG · 2026Review
- Deleterious coding variation associated with autism is shared across ancestries.Nature medicine · 2026Article
- Views and experiences regarding workplace genetic testing: findings from a national survey of U.S. employees.Journal of community genetics · 2026Article
- Assessing Willingness to Pay for Genetic Testing Among Adults: A Cross-Sectional Study Using Data from the Omnibus Survey 2022.Journal of personalized medicine · 2026Article
- Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.Nature health · 2026Article
- Health actions after direct-to-consumer genetic testing for medically actionable conditions.Genetics in medicine open · 2026Article
- Rare coding variation in OCD implicates shared genes with other psychiatric disorders.medRxiv : the preprint server for health sciences · 2025Article
- From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.Biomedicines · 2025Article
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
- Identification of Patients at Elevated Cancer Risk through a Community-Based Genetic Testing Program.Annals of surgical oncology · 2025Article
- Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.Nature communications · 2025Article
- Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele.Nature communications · 2025Article
- Genomic Screening at a Single Health System.JAMA network open · 2025Article
- Evolving knowledge of red flag clinical features associated with TTR p.(Val142Ile) in a diverse electronic health-record-linked biobank.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Impact of population screening for Lynch syndrome insights from the All of Us data.Nature communications · 2025Article
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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