In today’s data revolution, genomics is emerging as a potential game changer for medicine and human performance, fuelled, in part, by pioneering work in precision personalized data underway on Canada’s east and west coasts. This exciting development was examined in a recent panel discussion hosted and emceed by Genome Atlantic on “The Future of Personalized Health & Human Performance” during BioPort Atlantic 2019.
Dr. Steve Armstrong, Genome Atlantic’s President and CEO and the panel’s emcee, teed up the discussion by posing the following questions:
“If you were diagnosed with cancer today, wouldn’t you want a treatment plan that is custom designed for you, your genetic blueprint and your specific cancer? If your son or daughter had an unexplained illness and you were bouncing from specialist to specialist for years on end, wouldn’t you want to bring this diagnostic odyssey to an end? Or if you were the owner of the Pittsburgh Penguins, home of our local hero Sydney Crosby, wouldn’t you want to ensure that Sid and the team were performing at their best? In all three examples, what kind of data would you need to make that happen?”
To answer these questions, the panel tapped three well known trailblazers who use data every day in their quest to improve human health and well-being: Dr. Janessa Laskin, a BC Cancer medical oncologist and the clinical leader of the Personalized Oncogenomics (POG) initiative in Vancouver; Dr. Christopher McMaster, Scientific Director of the CIHR Institute of Genetics and Director of the Scientific and Clinical Hub for Orphan Drug Development (formerly IGNITE), both based at Dalhousie University in Halifax; and Dr. Travis McDonough, founder and CEO of Kinduct, a Halifax-based athlete management and monitoring company with professional sports team clients from around the world.
POG is the world’s only cancer research project that uses whole genome sequencing, including transcriptomic (RNA) data to search for personalized treatments for patients with metastatic cancer, a malady Dr. Laskin characterizes as “a disease of the genome.” Dr. Chris McMaster and his group have uncovered a potential therapy for congenital sideroblastic anemia, a condition in which the bone marrow fails to produce enough healthy red blood cells, and are developing treatments for inherited Parkinson’s disease and for familial exudative vitreoretinopathy, a hereditary disorder that can cause vision loss. Meanwhile, Kinduct collects, sifts and aggregates a vast array of data, including genomic information, on individual athletes to come up with comprehensive regimes to improve athletic performance.
Dr. Janessa Laskin
Dr. Laskin said one of the challenges of using genomics to find and then target the drivers of an individual’s cancer is the realization that “we have been extremely siloed in the way we think about cancer and how we think about drugs. But now we have technology that tells us that a particular drug might be very useful in multiple different kinds of cancers and genome technology is helping us figure that out.”
What we are learning, she said, is that drugs not normally used for cancer or for a particular type of cancer can be strong therapeutic possibilities to attack drivers of a particular cancer based on its genomic analysis. Drugs normally used for hypertension, for instance, have been selected for use in some POG cancer treatments, as well as drugs conventionally deployed in different types of cancer. For example, based on an individual’s genomic data, a drug approved for lung cancer might be appropriate for a particular case of pancreatic cancer.
These findings have potential disruptive consequences, she said: “We have to think about how regulatory authorities are approving drugs and funding drugs, so they aren’t just siloed in particular applications in one particular tumour type.”
Dr. Christopher McMaster
The growing role for genomics in human health and other fields is largely due to the plummeting cost of creating the data, said Dr. McMaster. “The human genome was sequenced in 2003,” he said, adding, “It took a decade and it cost over $1 billion. In 2019 we can sequence the human genome in a few weeks for about a thousand dollars.” No technology, he said, has accelerated at such a pace.
Dr. McMaster’s research lab uses genomic data to uncover therapies for orphan diseases, most of which are currently untreatable. For orphan diseases which used to take five-seven years and up to $30,000 of tests to detect with certainty, Dr. McMaster said advances in genomics mean “we can now diagnose these cases by sequencing the [patients’] genomes in a matter of weeks. It’s speeding up a diagnosis without increasing costs to the health care system.”
Sometimes called “rare diseases,” orphan diseases are not rare at all when viewed as a category. More than 7,000 diseases fall into this grouping. In Canada, it has been estimated, one in 40 children are born with an orphan disease and because it is often life-limiting, 35 per cent of them fail to reach their fifth birthday.
“The nice thing about inherited diseases is, it’s a single gene in which a mutation is causing a disease,” said Dr. McMaster, so there is “an immediate cause to an effect.” With the help of Genome Canada, Genome Atlantic and other partners, he is now involved in a “scientific-clinical hub to come up with treatments.”
For most inherited disease there is no current treatment. “So, this hub is looking to lead Canada in terms of bringing medicines into the clinic and into the market for treating cases with inherited diseases,” he said. Helping advance this ambition, the Food and Drug Administration in the U.S. offers Rare Pediatric Disease Priority Review Vouchers which help companies move qualifying drugs to the front of the review line in the approval process. The express provision brings cost savings to drug developers, ranging from $100 million to $250,000.
Dr. Travis McDonough
The software company, Kinduct, grew out of Mr. McDonough’s experience in the healthcare industry where 3-D medical examinations and rehabilitation programming generate a slew of compartmentalized data. Elite sports do the same thing with even more varied types of data – all sorts of player monitoring and player tracking, for instance. Kinduct figured out how to put it all together and draw helpful conclusions to optimize performance and wellness in professional sport.
“Essentially we create better athletes,” said Dr. McDonough. The goals, he said, are to create “vigorous, stronger, faster athletes,” mitigate costs associated with soft tissue injuries, identify “the next great athlete out there,” and capitalize on the new markets starting to appear for monetization.
Kinduct aggregates reams of data, including DNA, and with the help of AI engines, the company contextualizes and analyzes it. Detected trends can then lead to recommendations or interventions for the athlete – from nutrition to training programs and playing strategies. Kinduct is now considered a world leader in Athlete Management Systems and many professional sports teams, including in the NHL, have jumped aboard. Kinduct, he said, is now also starting to work with player associations.
“It’s been a crazy journey for us,” Dr. McDonough admitted. While focused on elite professional sport, he said, opportunities to move into related areas with Kinduct’s methodology of data collection and analysis seem boundless – from sports medicine to horses in equestrian sports.
“We hope that the people who attended were inspired”
“The panelists are recognized leaders in clinical care, orphan disease research and human performance and each brought to the table information on the incredible advancements they’re pioneering,” said Dr. Steve Armstrong. “We heard about a revolutionary new approach to cancer therapy, the progress being made in treating rare diseases in children at the IWK, and how a Halifax-based company is helping professional sports teams get the most of their athletes. These seemingly disparate topics are linked together by the ability to custom-tailor treatments and optimize performance thanks to personalized data.”
“We hope that the people who attended were inspired and that they left feeling optimistic about a future made brighter by the transformative power of personalized data and genomics.”