![]() This Community Genetics program has been extensively studied and evaluated over 25 years, showing the effectiveness of pre-test group education in achieving informed consent for carrier screening using both specific genetic tests and genetic panels. All tested students receive a written report any student found to be a genetic carrier is also offered genetic counseling. Several days later voluntary, follow-up testing is provided at participating high schools, where students can formally consent to collection of a saliva or buccal swab sample, and genetic carrier testing is performed in a clinically-accredited pathology laboratory. In this Community Genetics program, year 11 students (irrespective of ancestry or religion) attend a 1-h compulsory genetics education session with a genetics or educational professional. This program is run by Sydney’s Wolper Jewish Hospital ( ) with a primary focus of organizing annual education and pre-conception testing in five high schools in metropolitan Sydney with high proportions of enrolled Jewish students. A Community Genetics program has operated continuously in Sydney since 1995 its operation has led to the disappearance of TSD-affected births in the at-risk tested population. Within Australia, there are ~120,000 AJ individuals residing mainly in Sydney and Melbourne. The best-known of these are screening programs for Tay-Sachs disease (TSD), an autosomal recessive, highly-penetrant, incurable childhood condition particularly prevalent in people with Ashkenazi Jewish (AJ) ancestry. Genetic carrier testing or reproductive carrier screening (referred to here as “carrier screening”) is a test for healthy individuals before or during pregnancy to see if they have an increased likelihood of having a child with an autosomal or X-linked condition.Ĭommunity-wide carrier screening has been offered to groups whose ancestry makes them at increased risk of being a genetic carrier of various conditions. These tools remain available for future operation and can be adapted to other programs. 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. 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. 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. A Community Genetics carrier screening program for the Jewish community has operated on-site in high schools in Sydney (Australia) for 25 years.
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