Recontact to return new or updated

Genetic Predisposition to Disease Genetics

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
19 Apr 2024
Historique:
received: 21 09 2023
accepted: 02 12 2023
pubmed: 21 12 2023
medline: 21 12 2023
entrez: 20 12 2023
Statut: epublish

Résumé

The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients. Genetic testing was conducted on 2977 individuals originally referred for Novel clinically actionable pathogenic variants were identified in the Novel pathogenic variants in

Identifiants

pubmed: 38124008
pii: jmg-2023-109652
doi: 10.1136/jmg-2023-109652
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

477-482

Informations de copyright

© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Seema Panchal (S)

University of Toronto, Toronto, Ontario, Canada.
Mount Sinai Hospital, Toronto, Ontario, Canada.

Radhika Mahajan (R)

Mount Sinai Hospital, Toronto, Ontario, Canada.
Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada.

Navneet Aujla (N)

Mount Sinai Hospital, Toronto, Ontario, Canada.
Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada.

Paul McKay (P)

University of Toronto, Toronto, Ontario, Canada.
Mount Sinai Hospital, Toronto, Ontario, Canada.

Selina Casalino (S)

Mount Sinai Hospital, Toronto, Ontario, Canada.
Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada.

Vanessa Di Gioacchino (V)

University of Toronto, Toronto, Ontario, Canada.
Mount Sinai Hospital, Toronto, Ontario, Canada.

George S Charames (GS)

University of Toronto, Toronto, Ontario, Canada.
Mount Sinai Hospital, Toronto, Ontario, Canada.
Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada.

Maude Lefebvre (M)

Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.

Kelly A Metcalfe (KA)

Lawrence S Bloomberg Faculty of Nursing, University of Toronto, Toronto, Ontario, Canada.
Women's College Research Institute, Toronto, Ontario, Canada.

Mohammad Reza Akbari (MR)

Women's College Research Institute, Toronto, Ontario, Canada.

Jeanna Marie McCuaig (JM)

University of Toronto, Toronto, Ontario, Canada.
Princess Margaret Cancer Centre, Toronto, Ontario, Canada.

Jordan Lerner-Ellis (J)

University of Toronto, Toronto, Ontario, Canada jordan.lerner-ellis@sinaihealth.ca.
Mount Sinai Hospital, Toronto, Ontario, Canada.
Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada.

Classifications MeSH