Ashkenazi Jewish screening in the twenty-first century.
Ashkenazi Jewish genetic screening has expanded significantly in the past 4 decades. Individuals of Eastern European (Ashkenazi) Jewish (AJ) descent are at increased risk of having offspring with particular genetic diseases that have significant morbidity and mortality. In addition, there are some disorders, such as cystic fibrosis, for which northern European Caucasians are at comparable risk with those of an AJ background. Carrier screening for many of these Jewish genetic disorders has become standard of care. As technology advances, so does the number of disorders for which screening is available. Thus, we need to continue to be cognizant of informed consent, test sensitivity, confidentiality, prenatal diagnosis, preimplantation genetic screening, and public health concerns regarding testing.
Klugman
Susan
S
Obstetrics and Gynecology and Women's Health, Albert Einstein, College of Medicine, Bronx, NY, USA. sklugman@montefiore.org
Gross
Susan J
SJ
D005061:Europe, Eastern / Q000208:ethnology; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D044465:White People / Q000235:genetics