Researchers from Stanford, Harvard, and Massachusetts General Hospital used whole genome sequencing results in conjunction with physical exam, medical history, and family history to evaluate disease risk and drug response. Published in the May 1, 2010 online issue of The Lancet, study results indicate whole genome sequencing can yield clinically useful information for individual patients.1
Stephen Quake, study co-author and participant, exercised regularly without problems, took no prescribed medications and appeared to be well. Clinical findings were within normal limits as well; however, genetic counseling and a family pedigree did uncover a positive family history for coronary artery disease and sudden cardiac death.
From sequencing results, researchers determined that, among other things, Quake was at elevated risk for myocardial infarction, type 2 diabetes, and certain cancers. They also found he carried three variants in genes clinically associated with sudden cardiac death: TMEM43, DSP and MYBPC3. With respect to drug response, sequencing results indicated a null mutation in CYP2C19, suggesting poor metabolizer status for clopidogrel and variants in CYP4F2 and VKORC1 which might indicate low initial dose requirements for warfarin.
Mindful of the rapidly evolving area of genetic testing and the role it plays in the prediction, diagnosis, and management of disease, LabCorp continues to focus attention and resources on this important area. Correlagen Diagnostics, Inc, a wholly owned subsidiary of Laboratory Corporation of America Holdings, performs Sanger sequencing for the TMEM43, DSP, and MYBPC3 variants mentioned above. Additionally, LabCorp’s Center for Molecular Biology and Pathology offers CYP2C19 for clopidogrel, and CYP2C9 and VKORC1 for warfarin.
For additional information and specimen collection instructions, please view the LabCorp Test Menu. For more information about cardiology gene sequencing, visit the Correlagen Diagnostics, Inc web site.