Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.

Autor: Terrill B; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; School of Clinical Medicine, St Vincent's Clinical Campus, UNSW Sydney, Darlinghurst, NSW, 2010, Australia., McKnight L; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia., Pearce A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia., Gordon H; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia., Lo W; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia., Lee IJ; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia., Runiewicz M; NSW Health Pathology, Randwick, NSW, 2031, Australia.; Community Genetics Program (NSW), Woollahra, NSW, 2034, Australia., Palmer A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia., Andrews L; Community Genetics Program (NSW), Woollahra, NSW, 2034, Australia.; School of Clinical Medicine, Prince of Wales Clinical Campus, UNSW Sydney, Randwick, NSW, 2031, Australia.; Wolper Jewish Hospital, Woollahra, NSW, 2034, Australia.; NSW Health, Prince of Wales Hospital, Randwick, NSW, 2031, Australia., Kirk E; NSW Health Pathology, Randwick, NSW, 2031, Australia.; Community Genetics Program (NSW), Woollahra, NSW, 2034, Australia.; School of Clinical Medicine, Prince of Wales Clinical Campus, UNSW Sydney, Randwick, NSW, 2031, Australia., Goldberg D; Community Genetics Program (NSW), Woollahra, NSW, 2034, Australia.; Wolper Jewish Hospital, Woollahra, NSW, 2034, Australia., Tucker J; Community Genetics Program (NSW), Woollahra, NSW, 2034, Australia.; Wolper Jewish Hospital, Woollahra, NSW, 2034, Australia., Murray D; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia., Kaplan W; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; School of Clinical Medicine, St Vincent's Clinical Campus, UNSW Sydney, Darlinghurst, NSW, 2010, Australia., Kummerfeld S; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; School of Clinical Medicine, St Vincent's Clinical Campus, UNSW Sydney, Darlinghurst, NSW, 2010, Australia., Burnett L; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia. leslie.burnett@garvan.org.au.; School of Clinical Medicine, St Vincent's Clinical Campus, UNSW Sydney, Darlinghurst, NSW, 2010, Australia. leslie.burnett@garvan.org.au.; Community Genetics Program (NSW), Woollahra, NSW, 2034, Australia. leslie.burnett@garvan.org.au.; Northern Clinical School, Faculty of Medicine and Health, University of Sydney, St Leonards, NSW, 2065, Australia. leslie.burnett@garvan.org.au.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Mar; Vol. 31 (3), pp. 257-261. Date of Electronic Publication: 2023 Jan 11.
DOI: 10.1038/s41431-022-01251-2
Abstrakt: A Community Genetics carrier screening program for the Jewish community has operated on-site in high schools in Sydney (Australia) for 25 years. During 2020, in response to the COVID-19 pandemic, government-mandated social-distancing, 'lock-down' public health orders, and laboratory supply-chain shortages prevented the usual operation and delivery of the annual testing program. We describe development of three responses to overcome these challenges: (1) pivoting to online education sufficient to ensure informed consent for both genetic and genomic testing; (2) development of contactless telehealth with remote training and supervision for collecting genetic samples using buccal swabs; and (3) a novel patient and specimen identification 'GeneTrustee' protocol enabling fully identified clinical-grade specimens to be collected and DNA extracted by a research laboratory while maintaining full participant confidentiality and privacy. These telehealth strategies for education, consent, specimen collection and sample processing enabled uninterrupted delivery and operation of complex genetic testing and screening programs even amid pandemic restrictions. These tools remain available for future operation and can be adapted to other programs.
(© 2023. The Author(s).)
Databáze: MEDLINE
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