Implementing genomic screening in diverse populations
| العنوان: | Implementing genomic screening in diverse populations |
|---|---|
| المؤلفون: | Giovanna T. Braganza, Emily R. Soper, Ruth J. F. Loos, Noura S. Abul-Husn, Sinead Cullina, Amanda Merkelson, Judy H. Cho, Arden Moscati, Jessica E. Rodriguez, Dean Bobo, Gillian M. Belbin, Sabrina A. Suckiel, Natasha Zeid, Eimear E. Kenny |
| المصدر: | Genome Medicine, Vol 13, Iss 1, Pp 1-11 (2021) Genome Medicine |
| بيانات النشر: | BMC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, lcsh:QH426-470, Population, MEDLINE, lcsh:Medicine, Pilot Projects, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Genomic screening, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genomic Medicine, Surveys and Questionnaires, Internal medicine, Ethnicity, Genetics, medicine, Humans, Genomic medicine, Genetic Testing, education, Molecular Biology, Genetics (clinical), Aged, Aged, 80 and over, African american, education.field_of_study, business.industry, Research, lcsh:R, Age Factors, Middle Aged, medicine.disease, Biobank, Human genetics, Lynch syndrome, lcsh:Genetics, Genetics, Population, 030104 developmental biology, Molecular Medicine, Female, business |
| الوصف: | 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 BioMeBiobank 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 BioMeparticipants 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 BioMeprotocol 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 ofTTRto 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. |
| اللغة: | English |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e065aee1ec866a93892547e0a657cee https://doaj.org/article/622c943747f5441b88bd76675c60c7ad |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....2e065aee1ec866a93892547e0a657cee |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |