At a glance
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The MedSeq Project Pilot Study: Integrating Whole Genome Sequencing Into the Practice of Clinical Medicine
In Brief
A clinical study evaluating Family History + Whole Genome Sequencing and Family History Only for Healthy Adults (Full Study and Extension Phase) and Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy. Completed, enrolled 213 participants across 1 site.
Detailed Summary
The MedSeq™ Project seeks to explore the impact of incorporating information from a patient's whole genome sequence into the practice of clinical medicine. In the extension phase of MedSeq we are attempting increase our participant diversity by increasing targeted enrollment of African/African American patient participants.
Study Details
Timeline
Interventions
Doctors and their patients receive a Genome Report and a Family History report. There are two sections of the Genome Report: 1. The General Genome Report, which include highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations. 2. The Cardiac Risk Supplement, which contain genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient. Extension Phase: Experimental: Family History + Whole Genome Sequencing \*In the main study participants are randomized to either the Experimental or Other Arm, in the Extension phase of the study all participants are in the Experimental Arm.
Doctors and their patients receive a Family History report.