Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

European Journal of Medical Genetics
J DelanneL Faivre

Abstract

With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles reporting qualitative, quantitative or mixed studies that interviewed healthcare providers, participants, or society regarding this subject. The methodology was carefully analysed, in particular whether or not studies made the distinction between actionable and non-actionable SF, in a clinical or research context. From 2010 to 2016, 39 articles were compiled. A total of 14,868 people were interviewed (1259 participants, 6104 healthcare providers, 7505 representatives of society). When actionable and non-actionable SF were distinguished (20 articles), 92% of respondents were keen to have...Continue Reading

References

Sep 14, 2010·Journal of Empirical Research on Human Research Ethics : JERHRE·Meredith C MeachamKelly Edwards
Nov 4, 2011·Genetic Testing and Molecular Biomarkers·Susanne B HagaJulianne M O'Daniel
Jan 10, 2012·Journal of Empirical Research on Human Research Ethics : JERHRE·Christian M SimonMartha Driessnack
Jan 14, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lynn G DresslerUNKNOWN GRRIP Consortium
Oct 5, 2012·The New England Journal of Medicine·Joep de LigtLisenka E L M Vissers
Oct 17, 2012·Patient Education and Counseling·Nancy R DowningChristian M Simon
Jan 12, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Teri A ManolioGeoffrey S Ginsburg
Feb 2, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Conrad V FernandezPoul H Sorensen
Feb 13, 2013·American Journal of Medical Genetics. Part a·Zoe LohnJan Friedman
Apr 20, 2013·Journal of Oncology Practice·Stacy W GrayJane C Weeks
May 25, 2013·Journal of Community Genetics·Louise A KeoghUNKNOWN Colon Cancer Family Registry
Jun 4, 2013·Journal of Genetic Counseling·Megan E GroveKelly E Ormond
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
Jun 29, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert KlitzmanWendy K Chung
Sep 24, 2013·American Journal of Human Genetics·Michael O DorschnerGail P Jarvik
Oct 4, 2013·The New England Journal of Medicine·Yaping YangChristine M Eng
Oct 12, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Layla ShahmirzadiKelly D Farwell Gonzalez
Oct 26, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Paul S AppelbaumWendy K Chung
Jan 18, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Conrad V FernandezChristopher R McMaster
Feb 6, 2014·European Journal of Human Genetics : EJHG·Erin TurbittSylvia A Metcalfe
May 8, 2014·European Journal of Human Genetics : EJHG·Jane KayeKaren Melham
Jun 5, 2014·Nature·Christian GilissenJoris A Veltman
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
Nov 14, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Caroline S BennetteDavid L Veenstra
Nov 14, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Maren T ScheunerJames Evans
Jan 22, 2015·European Journal of Human Genetics : EJHG·Anne Marie JelsigLilian Bomme Ousager
Feb 11, 2015·European Journal of Medical Genetics·Gabrielle M ChristenhuszKris Dierickx
Mar 3, 2015·The Journal of Pediatrics·Miguel Barajas, Lainie Friedman Ross
Mar 11, 2015·CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne·Dean A RegierDavid Veenstra
Jun 4, 2015·European Journal of Human Genetics : EJHG·Jayne Y Hehir-KwaPeter N Robinson
Aug 14, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jonathan S BergJames P Evans
Oct 29, 2015·European Journal of Human Genetics : EJHG·Gert MatthijsUNKNOWN European Society of Human Genetics
Nov 20, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Catherine GliwaBenjamin E Berkman
Dec 4, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kyle RettererSherri Bale

❮ Previous
Next ❯

Citations

Dec 6, 2019·European Journal of Human Genetics : EJHG·Esha JoshiYvonne Bombard
Feb 1, 2020·European Journal of Human Genetics : EJHG·Celine LewisLyn S Chitty
Jan 17, 2021·Journal of Community Genetics·Mateja VinkšelBorut Peterlin
Jan 17, 2021·Molecular & Cellular Proteomics : MCP·Sebastian Porsdam MannMatthias Mann
May 12, 2020·Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research·Zoë P MackayUNKNOWN BabySeq Project Team
May 21, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·David T MillerUNKNOWN ACMG Secondary Findings Working Group
Jun 2, 2021·Familial Cancer·Anna ByrjalsenMarjolijn Jongmans
Aug 27, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie C SappLeslie G Biesecker
Jul 3, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kandamurugu ManickamUNKNOWN ACMG Board of Directors

❮ 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

The American Journal of Bioethics : AJOB
Alessandro BlasimmeEffy Vayena
Genetics in Medicine : Official Journal of the American College of Medical Genetics
Michael P MackleyElizabeth Ormondroyd
Medsurg Nursing : Official Journal of the Academy of Medical-Surgical Nurses
Juliana Wilson, Ruth McCaffrey
© 2022 Meta ULC. All rights reserved