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Artículos

Genética : Ethical and Counseling Challenges in Prenatal Exome Sequencing.
Enviado por Biblio on 10/9/2018 7:59:00 (29 Lecturas)

Harris S, Gilmore K, Hardisty E, Lyerly AD, Vora N. Ethical and Counseling Challenges in Prenatal Exome Sequencing. Prenat Diagn. 2018 Sep 1. doi: 10.1002/pd.5353. [Epub ahead of print]

Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/30171820


Abstract
OBJECTIVE:
Ethical and counseling challenges are expected with the introduction of prenatal whole exome sequencing. In this study, we describe specific challenges identified through the UNC-Chapel Hill Prenatal Exome Sequencing Study.

METHODS:
Participants were a subset of women participating in the fetal exome study, which has enrolled 73 mother-father-fetus trios in pregnancies diagnosed with structural anomalies and normal standard genetic testing results. In this descriptive study, cases were reviewed by members of the research team, including a bioethicist, to identify counseling challenges. Illustrative cases were chosen by group consensus.

RESULTS:
Four illustrative cases were identified for further analysis. Challenges included: need for adequate counseling and informed consent, challenges in prenatal variant interpretation, performing prenatal diagnosis in subsequent pregnancies, inability to identify a genetic etiology, and identifying parental secondary findings.

CONCLUSION:
Our study illustrates several challenges identified in an ongoing prenatal exome study. While genomic medicine is a powerful tool for prenatal diagnosis, it is important that clinicians understand the ethical implications and parental perceptions of this testing modality.

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