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

Abstract

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.

Fig. 1. Sample screenshots of the online educational program and related resources.

From top left: Educational video on basic genetic principles; potential clinical scenarios; interactive activity to illustrate inheritance models and random segregation; FAQs (Frequently Asked Questions); certificate with unique verification code to confirm completion of pre-test education program; cartoon roadmap to guide participants through personal decision-making.

Fig. 2. The GeneTrustee [7] multi-part request/consent form and workflow.

The form is organized into four sections, each easily separated using pre-perforated paper. The top section is the “receipt” and is given to the participating student. It contains contact details for all laboratories, and two identification numbers: the clinical laboratory identification (CID) and the research laboratory identification (RID). The second section is for the clinical laboratory, and contains full patient identifiers, [6] consent for testing and the CID. The third section is for the Custodian of the GeneTrustee, and it contains both the CID and RID. The fourth section is for the research laboratory, and it contains only restricted identifiers (in this study, we used the first two letters only of first and last names, sex, and year-only of birth), sufficient to uniquely identify the case, but insufficient to reveal personally identifiable information, plus consent for research, and the RID. The sample is collected and labeled only with the RID , and the research laboratory extracts DNA and forwards it to the clinical laboratory . In step , the clinical laboratory contacts the Custodian of the GeneTrustee, providing the RID and (without revealing the patient’s personal identifiers) additional restricted identifiers taken from the full clinical identifiers); the GeneTrustee matches this information and returns the corresponding CID to the clinical laboratory , which now has a fully re-identified DNA sample from the patient’s sample, obtained without the research laboratory or the Custodian ever having known or been provided with the identity of the patient.