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Biomarkers
T
he costs of sequencing the order of nucleotide bases in the DNA strands found in chromosomes have
plummeted by a million-fold over the last 25 years. The entire sequence of 2.9 billion nucleotide
base-pairs in a single human genome can now be determined for less than $1000. Complete genomes
of hundreds of thousands of people are expected to be sequenced over the next decade.
While the acquisition of such genomic knowledge was originally forecasted to herald better diagnostics and
therapeutic treatments, the actual deliverables for improved health care have been disappointing. Excluding
cancer, it has become apparent that only about 10% of the cases of the most common diseases that afflict our
population have a genetic basis that can be ascribed to hereditary mutations in the DNA sequences of specific
genes.
Over 100 million single nucleotide variants appear to exist in the human population, and perfectly healthy
people appear to commonly harbour about 100 or so serious disease-associated mutations without any
apparent manifestations of these particular diseases. Studies, with over 50,000 genetically identical twins,
have shown no increased risks for the 24 most common diseases amongst the twins than for a twin with the
general population.
About the Author
Dr. Steven Pelech is the Founder, President, and Chief Scientific Officer of Kinexus
Bioinformatics Corporation, and concurrently a full professor in the Department of
Medicine at the University of British Columbia. He was formerly the founder and
president of Kinetek Pharmaceuticals. He has authored more than 230 scientific papers
and created the SigNET on-line Knowledge-bank. Seasoned with over twenty-five years
of experience in the areas of science, business, and administration, he has contributed
leadership, vision, and strategic planning to Kinexus.
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