Controversy and debate on clinical genomics sequencing —paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau

We are pleased that Professors Wilson, Miller, and Rousseau agree with our conclusion that genome-wide sequencing (GWS) may benefit patients with suspected monogenic disease that has not been identified by conventional mutation testing, but we are perplexed by their assertion that each patient on whom clinical GWS is performed “is in reality an n-of-1 research subject.” They appear to be confusing “NGS” (next generation sequencing) with GWS and conventional locus-specific single-gene testing with genome-wide testing.

Source: Journal of Clinical Epidemiology - September 22, 2017 Category: Epidemiology Authors: Shelin Adam, Jan M. Friedman Tags: Commentary Source Type: research