Integration of Whole Genome Sequencing into Clinical Medicine

MedSeq is the first use of randomized trials of whole genome sequencing (WGS) in clinical care. This project seeks to develop a process to integrate genome sequencing into clinical medicine and explore the impact of doing so. In this endeavor, a pair of randomized controlled trials are conducted to compare WGS to standard of care in two specific clinical contexts:

  1. Disease-specific genomic medicine in a cardiomyopathy clinic
  2. General genomic medicine in primary care

The goal of this project is to evaluate the effectiveness of clinically meaningful information derived from WGS compared against current standards of care.

MedSeq recruits both patient participants and physicians. For physician participants, MedSeq aims to investigate the impact of educational curriculum to enable physician participants to interpret and manage participants' genome reports. Additionally, MedSeq examines the attitudes, behaviors and outcomes of both patiant and physician participants at numerous time points before and after the disclosure of genomic results.