Research Report 2019_20


The HudsonAlpha Clinical Sevices Lab performs whole genome sequencing for The Smith Family Clinic for Genomic Medicine.

clinical practice. They also acknowledge that best practices will continue to evolve and hope this publica- tion will open more discussions focused on guidelines for analytical validation of clinical WGS. In addition to ensuring that clinical WGS can accu- rately and reproducibly diagnose a given disease, evi- dence of clinical utility and cost-effectiveness will also be important for WGS to be accepted into routine prac- tice. In another paper published in October 2020, Bick and the MGI team provide a standardized framework and toolkit of best practices for measuring the clinical utility of WGS 2 . Although they focused on its application for rare germline disease, the team hopes the clinical utility toolkit will offer a flexible framework for best practices around measuring clinical utility for a range of WGS applications. While progress is being made in defining best prac- tices for the implementation of clinical WGS, the same guidelines cannot be used for other genomic tests, such as elective screening tests. Elective genomic screening tests, meaning a test performed on individuals who do not have a medical indication for such testing, are gain- ing popularity. Using guidelines specific to other genetic tests could lead to a higher risk of false-positive reports because they are performed on a different population with a different intended use. The Smith Family Clinic for Genomic Medicine offers both types of testing, giving Bick the opportunity to document successes and challenges of implement- ing and analyzing elective genomic screening tests

Dr. Bick at The Smith Family Clinic for Genomic Medicine.

as well as WGS. Bick authored a perspective piece, published in The Journal of Molecular Diagnostics , that addresses the application of basic test design principles to genetic screening 3 . In the perspective piece, Bick sug- gested that laboratories can minimize the risk of false- positives by modeling estimates of missing data (like natural history and prevalence of diseases), by design- ing tests according to their intended use, by adhering to established principles of screening, and by providing consumers and physicians abundantly clear limitations to the clinical utility of the results. Under the leadership of Bick, The Smith Family Clinic for Genomic Medicine affords patients access to cutting-edge genomic technology and also helps inform researchers, clinicians, and policy-makers on how that same genomic technology can be implemented to aid patients on their health or diagnostic journey. n

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