The Role of Whole Genome and Whole Exome Sequencing in Preventive Genomic Sequencing Programs

The target article by Lázaro-Muñoz and colleagues (2015) proposes policy recommendations on opt-in/opt-out strategies for the development of population-based preventive genomic sequencing programs (PGSP). Through a rather summary analysis, the authors ground their recommendation for “menu”- rather than “panel” based PGSPs on a number of technical, public health, legal and ethical considerations. The main challenges identified in the article, such as the complex issue of whether a PGSP’s objective is to promote public or individual health, and the difficulty of communicating genetic sequencing risks and benefits to participants, are highly relevant. However, we argue that it is necessary to take into account recent advances in the field of next generation sequencing, and to focus on the existing data as well as the few rare yet high-profile incidents of genetic discrimination, before one can make strong policy recommendations for PGSP design.

This content has been updated on April 19, 2023 at 13 h 01 min.