Reporting of Clinical Genome Sequencing Results

Abstract

High-throughput sequencing and high-performance computing technologies have become powerful tools in clinical genetic diagnosis of hereditary disorders and genetic screening of healthy individuals to provide information for the diagnosis, treatment, and prevention of diseases or impairment and assessment of health. For patients with undiagnosed disorders, including many rare disorders, the whole-genome sequencing (WGS) test may end the diagnostic odyssey, ultimately guiding clinical care for them and their families. A clinical WGS test relies on high-quality genome-sequencing data as well as sophisticated data-interpretation approaches. Results are returned to the ordering physician in a concise report featuring an overall test result and in-depth phenotype-driven interpretation of the known or plausible genetic explanation of test indications. Patients have the option to decide whether the report should include secondary and incidental findings. Protocols and templates for reporting clinical WGS results and supplementary information are described in this article. © 2018 by John Wiley & Sons, Inc.

Clinical Interpretation of Sequence Variants

“…However, hundreds of clinical variants with possible clinical significance are still retained after multistage filtering and it is challenging to identify disease-causing variants among them. Proper interpretation of the clinical significance of these variants is key to high-quality clinical genetic reporting (Song, Duzkale, & Shen, 2018).…”