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Personalized Genomic Medicine and Prenatal Genetic Testing

Personalized Genomic Medicine and Prenatal Genetic Testing Opinion Editorials represent the opinions of the authors and JAMA EDITORIAL and not those of the American Medical Association. Personalized Genomic Medicine and Prenatal Genetic Testing Siobhan M. Dolan, MD, MPH Just 30 years ago, Merkatz et al reported an association be- decision making by pregnant women (with widely varying tween low maternal serum alpha-fetoprotein and trisomy 18, levels of health literacy and numeracy) confronted by proving in principal that information about a fetus could be the myriad genetic screening and testing options. The pri- learned prenatally. Today, ge- mary outcome measured was use of invasive prenatal netic testing directly on fetal genetic testing obtained via medical record review. The Related article page 1210 cells can provide a complete intervention consisted of an interactive computer-based karyotype, and use of chro- decision-support guide that explained the testing options mosomal microarray analysis (CMA) can generate informa- and facilitated values clarification regarding testing. Addi- tion regarding more than 80 syndromes caused by microde- tionally, testing was free to women in the intervention letions and microduplications. Noninvasive prenatal testing group. Secondary outcomes included testing strategy on cell-free fetal DNA in maternal serum is also being inte- undergone, knowledge, risk comprehension, decisional grated into http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Personalized Genomic Medicine and Prenatal Genetic Testing

JAMA , Volume 312 (12) – Sep 24, 2014

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Publisher
American Medical Association
Copyright
Copyright 2014 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2014.12205
pmid
25247514
Publisher site
See Article on Publisher Site

Abstract

Opinion Editorials represent the opinions of the authors and JAMA EDITORIAL and not those of the American Medical Association. Personalized Genomic Medicine and Prenatal Genetic Testing Siobhan M. Dolan, MD, MPH Just 30 years ago, Merkatz et al reported an association be- decision making by pregnant women (with widely varying tween low maternal serum alpha-fetoprotein and trisomy 18, levels of health literacy and numeracy) confronted by proving in principal that information about a fetus could be the myriad genetic screening and testing options. The pri- learned prenatally. Today, ge- mary outcome measured was use of invasive prenatal netic testing directly on fetal genetic testing obtained via medical record review. The Related article page 1210 cells can provide a complete intervention consisted of an interactive computer-based karyotype, and use of chro- decision-support guide that explained the testing options mosomal microarray analysis (CMA) can generate informa- and facilitated values clarification regarding testing. Addi- tion regarding more than 80 syndromes caused by microde- tionally, testing was free to women in the intervention letions and microduplications. Noninvasive prenatal testing group. Secondary outcomes included testing strategy on cell-free fetal DNA in maternal serum is also being inte- undergone, knowledge, risk comprehension, decisional grated into

Journal

JAMAAmerican Medical Association

Published: Sep 24, 2014

References