The 10 Leading Patient Engagement Solution Providers in 2018 Leading Patient Engagement small - Page 37

Exclusive View PROTEINS ARE BETTER BIOMARKERS THAN GENES 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. 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. Over 95% of the known 21,300 genes carried in the human genome serve as the blue-prints for the construction of all of the cellular proteins, known as the proteome. These proteins function like molecular robots to regulate and carry out all of the biochemical reactions needed to keep cells alive. Their programming for specific tasks is partly December 2018 35