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