Ethical and counseling challenges in prenatal exome sequencing

Prenatal Diagnosis
Sarah HarrisNeeta Vora

Abstract

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. 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. 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. 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.

References

Apr 11, 2001·Lancet·A Lucassen, M Parker
Jun 1, 1997·Journal of Genetic Counseling·Robert G Resta
Oct 4, 2011·Nature Genetics·Thorunn RafnarKari Stefansson
Aug 9, 2012·Obstetrics and Gynecology·Jessica SchollCarol B Benson
Mar 5, 2013·Current Opinion in Obstetrics & Gynecology·Zornitza StarkGeorge McGillivray
May 31, 2013·Bioethics·Eline M BunnikGuido M W R de Wert
Jun 22, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert C GreenUNKNOWN American College of Medical Genetics and Genomics
Oct 1, 2013·Human Genetics·Antina de JongGuido M W R de Wert
Jan 1, 2014·Best Practice & Research. Clinical Obstetrics & Gynaecology·David Howe
Mar 7, 2014·The American Journal of Bioethics : AJOB·Benjamin E Berkman, Sara Chandros Hull
May 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Barbara B BieseckerPaul K Han
Sep 10, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Victoria A MillerEric D Kodish
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Oct 20, 2015·Personalized Medicine·Laura M AmendolaGail P Jarvik
Nov 27, 2015·American Journal of Human Genetics·Hanan ShamseldinFowzan S Alkuraya
Dec 21, 2016·The American Journal of Bioethics : AJOB·Jeffrey R BotkinNancy C Rose
Dec 21, 2016·The American Journal of Bioethics : AJOB·Stephanie C Chen, David T Wasserman
May 19, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Neeta L VoraJames P Evans
Aug 10, 2017·The New England Journal of Medicine·Josephine JohnstonErik Parens
Oct 5, 2017·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·F FuC Liao
Feb 3, 2018·Human Genetics·Mahmoud AarabiAleksandar Rajkovic

❮ Previous
Next ❯

Citations

Jan 9, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kristin G MonaghanUNKNOWN ACMG Professional Practice and Guidelines Committee
Dec 29, 2020·Frontiers in Immunology·Reetika Malik YadavManisha Rajan Madkaikar
Nov 21, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Asha N TalatiNeeta L Vora
Aug 25, 2021·Human Genetics·Dagmar Schmitz, Wolfram Henn

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Practical Neurology
M J KeoghP F Chinnery
Rinshō shinkeigaku = Clinical neurology
Karen Nuytemans, Jeffery M Vance
© 2022 Meta ULC. All rights reserved