Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status

Personalized Medicine
Sandra JanssensPascal Borry

Abstract

An increasing number of direct-to-consumer (DTC) genetic testing companies have started offering tests for carrier status of autosomal recessive disorders. A written questionnaire was administered to 47 patients and 65 parents of children with Cystic Fibrosis (CF), a common severe autosomal recessive disorder, to assess their views about the offer of DTC carrier tests. All participants were recruited from a CF patient registry in Belgium. We found that very few patients and parents were aware of the offer of DTC genetic testing for carrier status, and were generally skeptical. A strong preference for the healthcare system over commercial companies as the provider of the test was observed. However, many participants believe people should have a right to access DTC genetic tests provided by commercial companies.

References

Jan 14, 2004·European Journal of Human Genetics : EJHG·Béatrice GodardSégolène Aymé
Nov 4, 2005·European Journal of Human Genetics : EJHG·Pascal BorryKris Dierickx
Sep 5, 2008·Annual Review of Genomics and Human Genetics·Stuart HogarthDavid Melzer
Dec 25, 2008·American Journal of Public Health·Katrina A B GoddardMuin J Khoury
Aug 15, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Katherine KolorMuin J Khoury
Dec 10, 2009·The American Journal of Bioethics : AJOB·Amy L McGuireSusan G Hilsenbeck
Aug 10, 2010·Annual Review of Genomics and Human Genetics·Colleen M McBrideKimberly A Kaphingst
Oct 27, 2010·PloS One·Lynn F CherkasBarbara Prainsack
Jan 15, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kathryn T HockWendy R Uhlmann
Mar 3, 2011·Human Reproduction·Pascal BorryHeidi C Howard
Apr 9, 2011·Clinical Chemistry·Elizabeth M RohlfsElaine A Sugarman
Sep 6, 2011·Annual Review of Medicine·Timothy Caulfield, Amy L McGuire
Nov 24, 2011·Journal of Community Genetics·Heidi Carmen Howard, Pascal Borry
Feb 10, 2012·European Journal of Human Genetics : EJHG·Gemma R BrettJane L Halliday
Jul 21, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Katherine KolorMuin J Khoury
Dec 20, 2012·European Journal of Human Genetics : EJHG·Lidewij HennemanMartina C Cornel
Apr 9, 2013·Genetic Testing and Molecular Biomarkers·Juli Murphy BollingerDavid Kaufman
Jul 31, 2013·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Fiona CunninghamJohn Massie
Nov 10, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Rene Almeling, Shana Kushner Gadarian

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Citations

Jul 30, 2015·European Journal of Human Genetics : EJHG·Sandra JanssensPascal Borry
Sep 10, 2018·Molecular Genetics & Genomic Medicine·Felicity K Boardman, Rachel Hale

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