Patient perspectives on whole-genome sequencing for undiagnosed diseases

Personalized Medicine
Debra L BoeldtCinnamon S Bloss

Abstract

This study assessed perspectives on whole-genome sequencing (WGS) for rare disease diagnosis and the process of receiving genetic results. Semistructured interviews were conducted with adult patients and parents of minor patients affected by idiopathic diseases (n = 10 cases). Three main themes were identified through qualitative data analysis and interpretation: perceived benefits of WGS; perceived drawbacks of WGS; and perceptions of the return of results from WGS. Findings suggest that patients and their families have important perspectives on the use of WGS in diagnostic odyssey cases. These perspectives could inform clinical sequencing research study designs as well as the appropriate deployment of patient and family support services in the context of clinical genome sequencing.

References

Feb 4, 2006·Applied Nursing Research : ANR·Elizabeth J Halcomb, Patricia M Davidson
Nov 7, 2006·The American Journal of Bioethics : AJOB·Leslie A Meltzer
Dec 9, 2008·The American Journal of Bioethics : AJOB·Juli MurphyKathy Hudson
May 12, 2011·JAMA : the Journal of the American Medical Association·William A Gahl, Cynthia J Tifft
Sep 2, 2011·Current Opinion in Pediatrics·David Bick, David Dimmock
Nov 1, 2011·American Journal of Medical Genetics. Part a·Holly K TaborMichael J Bamshad
Jan 10, 2012·Disease Models & Mechanisms·William A GahlManfred Boehm
Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·William A GahlDavid Adams
Sep 8, 2012·Journal of the American Board of Family Medicine : JABFM·Eric K ShawPaul A Nutting
Oct 5, 2012·Science Translational Medicine·Carol Jean SaundersStephen Francis Kingsmore
Apr 24, 2013·American Journal of Medical Genetics. Part a·Joon-Ho YuMichael J Bamshad
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
Jul 19, 2013·Science Translational Medicine·Howard J JacobElizabeth A Worthey
Aug 7, 2013·JAMA : the Journal of the American Medical Association·Robert KlitzmanWendy Chung
Sep 7, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Neil A Holtzman
Oct 4, 2013·The New England Journal of Medicine·Yaping YangChristine M Eng
Apr 5, 2014·Annals of Neurology·Ying-Zhang ChenAli Torkamani
May 13, 2014·American Journal of Human Genetics·Gail P JarvikWylie Burke
Jul 1, 2014·American Journal of Human Genetics·Joon-Ho YuMichael J Bamshad
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Yaping YangChristine M Eng
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Hane LeeStanley F Nelson
Mar 20, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Cinnamon S BlossAli Torkamani
Jul 4, 2015·American Journal of Human Genetics·Jeffrey R BotkinJoseph D McInerney
Aug 5, 2015·Nature Reviews. Genetics·Bartha Maria KnoppersKarine Sénécal
Feb 11, 2016·Journal of Community Genetics·Colin Me HalversonJennifer B McCormick
Feb 13, 2016·Journal of Genetic Counseling·Allyn McConkie RosellVandana Shashi
Mar 5, 2016·Applied & Translational Genomics·Kristin E CliftJennifer B McCormick

❮ Previous
Next ❯

Citations

Apr 27, 2019·Journal of Medical Genetics·David BickJohn Belmont
May 2, 2018·Personalized Medicine·Leland E Hull, Jason L Vassy
Nov 7, 2020·American Journal of Human Genetics·Julie A CakiciCinnamon S Bloss
Jan 3, 2019·Pediatrics·Caryn Kseniya RubanovichCinnamon S Bloss

❮ Previous
Next ❯

Software Mentioned

Dedoose
IDIOM

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

Current Protocols in Human Genetics
Cui SongJun Shen
Pediatric Clinics of North America
Robert M Kliegman, Brett J Bordini
© 2022 Meta ULC. All rights reserved