
The Library
Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition
Tools
Thomas, Lauren A., Lewis, Sharon, Massier, John, Kirk, Edwin P., Archibald, Alison D., Barlow-Stewart, Kristine, Boardman, Felicity K., Halliday, Jany, McClaren, Belinda and Delatycki, Martin B. (2020) Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition. European Journal of Medical Genetics, 63 (12). 104075. doi:10.1016/j.ejmg.2020.104075 ISSN 1769-7212.
|
PDF
WRAP-Which-types-conditions-reproductive-genetic-carrier-screening-children-genetic-Boardman-2020.pdf - Accepted Version - Requires a PDF viewer. Available under License Creative Commons: Attribution-Noncommercial-Share Alike 4.0. Download (1304Kb) | Preview |
Official URL: https://doi.org/10.1016/j.ejmg.2020.104075
Abstract
Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of genetic conditions. Despite advances in genomic testing technology and greater availability of carrier screening panels, there is no consensus around which types of conditions to include in carrier screening panels. This study sought to identify which types of conditions parents of children with a genetic condition believe should be included in carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants’ views towards carrier screening and their lived experience of having a child with a genetic condition.
Item Type: | Journal Article | ||||||||
---|---|---|---|---|---|---|---|---|---|
Subjects: | R Medicine > RB Pathology | ||||||||
Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences > Social Science & Systems in Health (SSSH) Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
||||||||
Library of Congress Subject Headings (LCSH): | Human chromosome abnormalities -- Diagnosis , Genetic screening | ||||||||
Journal or Publication Title: | European Journal of Medical Genetics | ||||||||
Publisher: | Elsevier | ||||||||
ISSN: | 1769-7212 | ||||||||
Official Date: | December 2020 | ||||||||
Dates: |
|
||||||||
Volume: | 63 | ||||||||
Number: | 12 | ||||||||
Article Number: | 104075 | ||||||||
DOI: | 10.1016/j.ejmg.2020.104075 | ||||||||
Status: | Peer Reviewed | ||||||||
Publication Status: | Published | ||||||||
Access rights to Published version: | Restricted or Subscription Access | ||||||||
Date of first compliant deposit: | 29 September 2020 | ||||||||
Date of first compliant Open Access: | 30 September 2021 | ||||||||
Related URLs: |
Request changes or add full text files to a record
Repository staff actions (login required)
![]() |
View Item |
Downloads
Downloads per month over past year