The Diagnostic Genome
The promise of preventative medicine
Modern medicine is currently limited to reactively treating of conditions and symptoms of disease after they occur. The promise of preventaive lies in predicting an individual's risk factors for certain chronic illnesses and using this informaiton to refocusing medical efforts toward proactively preventing the disease before it occurs. The most powerful way to determine one's risk factors for future disease is to analyze genomic variants. Discovering all of the genomic variants for an individual has been virtually impossible until recently.
The Diagnostic Genome
The “diagnostic genome” is the complete deep sequencing of an individual’s genome performed such that at least 99% of the variants that exist in that individual’s genome are detected. The exome is the subset of the genome that is of greatest clinical significance. The diagnostic genome is designed to provide a comprehensive enumeration of the exome. At this level of coverage, it is anticipated that the up to 40,000 variants in gene coding regions (the exome) will be detected. The diagnostic genome will require many fold more coverage than that generated for the recently published Watson genome. We believe that the first diagnostic genome will be a milestone in the history of medicine.
The Diagnostic Genome testing process
We do not consider diagnostic sequencing of an individual's genome to be a casual or recreational endeavor, but rather an endeavor to be seriously considered with ample forethought. Therefore, the process will begin with an in-depth meeting of the client and the client's physician with a team of clinical geneticists and genetic counselors. Upon completion of sequencing and analysis, MEDomicsTM will provide a multi-day in-depth consultation on all variants identified with respect to the public human genome sequence. The identified variants would be categorized into standard types and classified according to whether their effect on function is known, predicted or unknown. It is expected that a substantial number of the identified variants will be novel and have unknown significance at the current state of scientific knowledge. It is anticipated that the significance of more variants will be revealed as knowledge progresses.