Holly Etchegary1, Elizabeth Dicks2, Kathleen Hodgkinson3, Daryl Pullman4, Jane Green4, Patrick Parfey3. 1. Department of Clinical Epidemiology, Faculty of Medicine, Eastern Health and Memorial University, St. John's, NL, Canada.. Electronic address: holly.etchegary@med.mun.ca. 2. Department of Clinical Epidemiology, Faculty of Medicine, Eastern Health, St. John's, NL, Canada. 3. Department of Clinical Epidemiology, Faculty of Medicine, Memorial University, St. John's, NL, Canada. 4. Department of Genetics, Faculty of Medicine, Memorial University, St. John's, NL, Canada.
Abstract
OBJECTIVE: To measure attitudes toward newborn genetic testing in our jurisdiction. DESIGN: A cross-sectional, pen-and-paper survey. SETTING: The survey was administered to the general public and prospective parents in Eastern Canada between April 2010 and December 2010. PARTICIPANTS: A total of 648 individuals completed surveys. RESULTS: Positive attitudes were found toward newborn genetic testing, regardless of whether an effective treatment existed for the disorder in question or whether the disorder developed in adulthood. A majority agreed (69%) that testing should be available for any condition to assist with future reproductive decisions. Most respondents (93%) agreed parents should provide informed consent before newborn screening (NBS) was undertaken and that parents had a fundamental right to access NBS if they so choose. CONCLUSION: Interest in NBS for genetic disorders is generally high, regardless of whether an effective treatment exists. Findings lend support to the expansion of NBS panels to include those disorders currently lacking treatment but highlight consumers' desire for informed consent before testing is undertaken.
OBJECTIVE: To measure attitudes toward newborn genetic testing in our jurisdiction. DESIGN: A cross-sectional, pen-and-paper survey. SETTING: The survey was administered to the general public and prospective parents in Eastern Canada between April 2010 and December 2010. PARTICIPANTS: A total of 648 individuals completed surveys. RESULTS: Positive attitudes were found toward newborn genetic testing, regardless of whether an effective treatment existed for the disorder in question or whether the disorder developed in adulthood. A majority agreed (69%) that testing should be available for any condition to assist with future reproductive decisions. Most respondents (93%) agreed parents should provide informed consent before newborn screening (NBS) was undertaken and that parents had a fundamental right to access NBS if they so choose. CONCLUSION: Interest in NBS for genetic disorders is generally high, regardless of whether an effective treatment exists. Findings lend support to the expansion of NBS panels to include those disorders currently lacking treatment but highlight consumers' desire for informed consent before testing is undertaken.
Authors: Galen Joseph; Flavia Chen; Julie Harris-Wai; Jennifer M Puck; Charlotte Young; Barbara A Koenig Journal: Pediatrics Date: 2016-01 Impact factor: 7.124
Authors: Susan E Waisbren; Danielle K Bäck; Christina Liu; Sarah S Kalia; Steven A Ringer; Ingrid A Holm; Robert C Green Journal: Genet Med Date: 2014-12-04 Impact factor: 8.822
Authors: S G Nicholls; L Tessier; H Etchegary; J C Brehaut; B K Potter; R Z Hayeems; P Chakraborty; J Marcadier; J Milburn; D Pullman; L Turner; B J Wilson Journal: BMJ Open Date: 2014-11-24 Impact factor: 2.692
Authors: Sylvia M van der Pal; Sophie Wins; Jasmijn E Klapwijk; Tessa van Dijk; Adriana Kater-Kuipers; Catharina P B van der Ploeg; Suze M P J Jans; Stephan Kemp; Rendelien K Verschoof-Puite; Lion J M van den Bosch; Lidewij Henneman Journal: PLoS One Date: 2022-08-18 Impact factor: 3.752