Designing expanded carrier screening panels: results of a qualitative study with European geneticists

Personalized Medicine
Davit ChokoshviliPascal Borry

Abstract

To explore the views of clinical and molecular geneticists on the inclusion of disorders and specific pathogenic mutations into expanded carrier screening (ECS) tests for reproductive purposes. In-depth semistructured interviews were conducted with 16 European geneticists between April and September 2014. All participants supported carrier screening for severe, childhood-onset autosomal recessive disorders with known natural history. Some participants were also in favor of screening for late-onset and X-linked disorders. Regarding selection of specific pathogenic mutations, our participants argued that ECS should include highly penetrant pathogenic mutations with known genotype-phenotype associations. This study highlights main challenges surrounding the development of ECS panels and offers suggestions for future research in this rapidly advancing field.

References

Jul 1, 1992·Health Care for Women International·B Downe-Wamboldt
Jun 25, 1998·Disability and Rehabilitation·M Super, J Abbott
Mar 19, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jennifer R LeibBenjamin S Wilfond
Sep 20, 2007·JAMA : the Journal of the American Medical Association·Shachar ZuckermanMichal Sagi
Nov 29, 2007·European Journal of Human Genetics : EJHG·Pascal BorryKris Dierickx
Jun 27, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sylvia MetcalfeJonathan Cohen
Jan 14, 2011·Science Translational Medicine·Callum J BellStephen F Kingsmore
Feb 19, 2011·Human Genetics·Chee-Seng KuYudi Pawitan
Mar 3, 2011·Human Reproduction·Pascal BorryHeidi C Howard
Dec 3, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wayne W Grody
Dec 21, 2011·Journal of Community Genetics·Sylvia A Metcalfe
Dec 30, 2011·Journal of Community Genetics·Guido M W R De WertBartha M Knoppers
Jun 7, 2012·European Journal of Human Genetics : EJHG·Apollonia T J M Helderman-van den EndenHendrika B Ginjaar
Sep 15, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Gabriel A LazarinBalaji S Srinivasan
Apr 5, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Katie Stoll, Robert Resta
Apr 27, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wayne W GrodyRoger V Lebo
Sep 26, 2013·Journal of Community Genetics·Sara WienkeCharlie Strange
Feb 13, 2014·The Journal of Molecular Diagnostics : JMD·Alice K TannerMadhuri Hegde
Sep 10, 2014·Health Expectations : an International Journal of Public Participation in Health Care and Health Policy·Paola MosconiRoberto Satolli
Apr 17, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Regine M LimLee M Silver
Jul 4, 2015·Prenatal Diagnosis·Shivani B NazarethJames D Goldberg
Aug 8, 2015·Molecular Genetics & Genomic Medicine·Cynthia Perreault-MicaleValerie Greger
Mar 17, 2016·European Journal of Human Genetics : EJHG·Lidewij HennemanBorut Peterlin

❮ Previous
Next ❯

Software Mentioned

Skype
QSR Nvivo

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.