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

Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection
Bronwyn Terrill, Lauren McKnight, Angela Pearce, Heather Gordon, William Lo, I-Chieh Jennifer Lee, Monica Runiewicz, Alex Palmer, Lesley Andrews, Edwin Kirk, Daniel Goldberg, John Tucker, David Murray, Warren Kaplan, Sarah Kummerfeld, Leslie Burnett
European Journal of Human Genetics, 11 January 2023
Open Access
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.

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