Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").

Australia Consensus Development Conferences as Topic Genetic Carrier Screening / methods Genetic Predisposition to Disease Humans Quantitative Trait Loci

Journal

European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235

Informations de publication

Date de publication:
01 2021
Historique:
received: 13 02 2020
accepted: 30 06 2020
pubmed: 18 7 2020
medline: 17 8 2021
entrez: 18 7 2020
Statut: ppublish

Résumé

Reproductive genetic carrier screening aims to offer couples information about their chance of having children with certain autosomal recessive and X-linked genetic conditions. We developed a gene list for use in "Mackenzie's Mission", a research project in which 10,000 couples will undergo screening. Criteria for selecting genes were: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome. Strong evidence for gene-phenotype relationship was required. Candidate genes were identified from OMIM and via review of 23 commercial and published gene lists. Genes were reviewed by 16 clinical geneticists using a standard operating procedure, in a process overseen by a multidisciplinary committee which included clinical geneticists, genetic counselors, an ethicist, a parent of a child with a genetic condition and scientists from diagnostic and research backgrounds. 1300 genes met criteria. Genes associated with non-syndromic deafness and non-syndromic differences of sex development were not included. Our experience has highlighted that gene selection for a carrier screening panel needs to be a dynamic process with ongoing review and refinement.

Identifiants

DOI: 10.1038/s41431-020-0685-x PMID: 32678339 PMC: PMC7852568
pubmed: 32678339
doi: 10.1038/s41431-020-0685-x
pii: 10.1038/s41431-020-0685-x
pmc: PMC7852568
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

79-87

Références

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Auteurs

Edwin P Kirk (EP)

Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, NSW, Australia. edwin.kirk@health.nsw.gov.au.
School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia. edwin.kirk@health.nsw.gov.au.
NSW Health Pathology East Genomics Laboratory, Randwick, NSW, Australia. edwin.kirk@health.nsw.gov.au.
ORCID: 0000-0002-4662-0024

Royston Ong (R)

Centre for Medical Research, The University of Western Australia, Nedlands, WA, Australia.
Harry Perkins Institute for Medical Research, Nedlands, WA, Australia.
ORCID: 0000-0002-0997-7921

Kirsten Boggs (K)

Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, NSW, Australia.
Australian Genomics Health Alliance, Melbourne, VIC, Australia.
Department of Clinical Genetics, Children's Hospital Westmead, Westmead, NSW, Australia.

Tristan Hardy (T)

SA Pathology, Adelaide, SA, Australia.
Repromed, Dulwich, SA, Australia.
Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.

Sarah Righetti (S)

Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, NSW, Australia.
School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.
ORCID: 0000-0002-7430-3288

Ben Kamien (B)

Genetic Services of Western Australia, Perth, WA, Australia.

Tony Roscioli (T)

Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, NSW, Australia.
NSW Health Pathology East Genomics Laboratory, Randwick, NSW, Australia.
Neuroscience Research Australia, Randwick, NSW, Australia.

David J Amor (DJ)

Murdoch Children's Research Institute, Parkville, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Madhura Bakshi (M)

Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia.

Clara W T Chung (CWT)

School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.
Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia.

Alison Colley (A)

Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia.

Robyn V Jamieson (RV)

Department of Clinical Genetics, Children's Hospital Westmead, Westmead, NSW, Australia.
Eye Genetics Research Unit, Children's Medical Research Institute, Children's Hospital Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.
Disciplines of Genomic Medicine, and Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.

Jan Liebelt (J)

South Australian Clinical Genetics Service, Royal Adelaide Hospital, Adelaide, SA, Australia.
Women's and Children's Hospital, Adelaide, SA, Australia.

Alan Ma (A)

Department of Clinical Genetics, Children's Hospital Westmead, Westmead, NSW, Australia.
Discipline of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.

Nicholas Pachter (N)

Genetic Services of Western Australia, Perth, WA, Australia.
School of Medicine, The University of Western Australia, Perth, WA, Australia.

Sulekha Rajagopalan (S)

Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia.
ORCID: 0000-0002-5559-9466

Anja Ravine (A)

PathWest Laboratory Medicine, Perth, WA, Australia.

Meredith Wilson (M)

Department of Clinical Genetics, Children's Hospital Westmead, Westmead, NSW, Australia.
Discipline of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
ORCID: 0000-0003-2305-2033

Jade Caruana (J)

Australian Genomics Health Alliance, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Parkville, VIC, Australia.

Rachael Casella (R)

.

Mark Davis (M)

PathWest Laboratory Medicine, Perth, WA, Australia.

Samantha Edwards (S)

Centre for Medical Research, The University of Western Australia, Nedlands, WA, Australia.
Harry Perkins Institute for Medical Research, Nedlands, WA, Australia.

Alison Archibald (A)

Murdoch Children's Research Institute, Parkville, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Victorian Clinical Genetics Services, Parkville, VIC, Australia.

Julie McGaughran (J)

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
School of Medicine, University of Queensland, Brisbane, QLD, Australia.

Ainsley J Newson (AJ)

The University of Sydney, Faculty of Medicine & Health, Sydney School of Public Health, Sydney Health Ethics, Sydney, Australia.
ORCID: 0000-0002-3460-772X

Nigel G Laing (NG)

Centre for Medical Research, The University of Western Australia, Nedlands, WA, Australia.
Harry Perkins Institute for Medical Research, Nedlands, WA, Australia.

Martin B Delatycki (MB)

Murdoch Children's Research Institute, Parkville, VIC, Australia.
Victorian Clinical Genetics Services, Parkville, VIC, Australia.

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