作者
Noura S Abul-Husn, Emily R Soper, Giovanna T Braganza, Jessica E Rodriguez, Natasha Zeid, Sinead Cullina, Dean Bobo, Arden Moscati, Amanda Merkelson, Ruth JF Loos, Judy H Cho, Gillian M Belbin, Sabrina A Suckiel, Eimear E Kenny
发表日期
2021/12
期刊
Genome medicine
卷号
13
页码范围
1-11
出版商
BioMed Central
简介
Background
Population-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.
Methods
We 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 …
引用总数
学术搜索中的文章
NS Abul-Husn, ER Soper, GT Braganza, JE Rodriguez… - Genome medicine, 2021