Health Gets More Precise

It’s been more than two decades since a team of University of Alberta researchers discovered a transplant procedure that effectively relieved the need for insulin for some patients with Type 1 diabetes. The Clinical Islet Transplant Program was founded by Ray Rajotte, ’71 BSc(ElecEng), ’73 MSc, ’75 PhD, and its researchers have included numerous U of A alumni. The program revolutionized treatment for patients and created a legacy of using research technology. Now we might be on the verge of another revolution with the emergence of precision health. 

Precision health refers to a growing approach in health care to better identify a person’s unique medical risks for better treatment and prevention of disease. It aims to understand, diagnose and treat disease through advances in technology.

Technology has potential to affect the way we interact with health care. Imagine a visit to the doctor to treat a bad case of seasonal depression, and as part of your treatment you receive a health optimization plan informed by data from every patient in your community with your condition, similar genetic makeup and environmental exposures. 

But it’s not just diagnosis. Pharmogenetics, the study of precision drugs, pushes precision health further to provide patients with the right prescription medicines without the trial and error patients can often face. Visits to the doctor, surgeries and routine medical procedures all have the potential to improve under the umbrella of data, artificial intelligence and other advancements that precision health research has to offer.

During Alumni Weekend last year, several U of A researchers presented their expertise to an online audience. Here are some takeaways from the event. 

Research takes depression personally

Only half of all patients with depression who start a medication for it find relief, and medication is still the most common treatment for depression, according to Lisa Guirguis, ’97 BSc(Pharm), ’00 MSc, an associate professor in the Faculty of Pharmacy and Pharmaceutical Sciences. “I elected to work in depression for several reasons,” she says. “The first being that one in five Candians will face depression in their lives.” Guirguis expects the pandemic will increase this number.

Taking the wrong antidepressant can amount to months of delayed relief for patients. Pharmacogenomic testing is a technique that allows pharmacists to use a patient's DNA to forecast how well a certain medication will perform. Prescribing medication for mental illnesses like depression can be a difficult process fraught with side effects along with trial and error.

Pharmacogenomic testing has the potential to identify the one in five patients on antidepressants who may not get the expected relief or experience marked side effects due to genetic differences. About 100,000 Albertans on commonly prescribed antidepressants could benefit from pharmacogenomic testing, but it isn’t widely used.

“Our goal is to develop a flexible, evidence-based approach to accelerate the use of pharmacogenomic testing in community pharmacies,” Guirgius says. Testing involves a cheek swab that collects DNA for lab analysis. The tests have been commercially available for at least eight years but are not common in medical or any pharmacy practice. If Guirguis and her colleagues are successful with their plan to expand community testing, Albertans with depression will have access to tailored treatment for their symptoms without drawn out wait times that cost patients precious time. 

Public health data must balance personal privacy

The COVID-19 pandemic put a spotlight on public health, and it affected all other kinds of health care. Dean Eurich, ’03 MSc, ’07 PhD studies how COVID-19 has impacted chronic disease care for Indigenous people in Alberta. “We’re hoping our precision public health approach can provide a solution to this complex, but critically important area within First Nations health,” Eurich says.

A professor at the School of Public Health, he says precision public health targets effective health interventions at scale by monitoring the incidence and prevalence of disease in a community through the study of biological genetic factors, personal environmental and social determinants of health.

With this approach, Eurich and his team hope to identify strengths and areas that need strengthening to assist First Nations communities in their post-COVID-19 recovery. And he needs data to conduct public health research that is capable of creating change for a net positive health impact on large populations.

And Eurich says it’s almost always difficult to share health data among researchers to answer complex public health questions because of data privacy concerns and regulations. 

People are right to be concerned about their privacy. Individual health information is powerful data with multi-million dollar implications. Companies like 23andME and Ancestry have already capitalized on this market with mixed results.

AI and machine learning can be a solution to enhance privacy around data. This technology takes shape with the creation of synthetic health data, a technique that allows researchers to create fictional data sets based on real patient information. 

“You can think of the Matrix movie or Avatar — that’s exactly what we’re trying to do with synthetic health data,” Eurich says. “We have generated a data set of 80,000 fictitious opioid users in the province that mimic real world patterns of care and outcomes.” 

Regulators will determine how far researchers can go to collect the necessary health data they need to suggest health interventions at scale. As technology improves and rules change, our future might see medical breakthroughs forged in synthetic data fuelled by an army of fictional patients. 

Significant advances in disease diagnosis could save lives 

A large area of precision health research focuses on the study of precision disease diagnosis. Often, the earlier a correct diagnosis is made, the better the potential outcome for suffering patients as doctors can create a custom plan and anticipate symptoms before they arrive. 

Spinal muscular atrophy is a rare, once fatal disease that affects children. Peter Kannu is the Chair of the Department of Medical Genetics in the Faculty of Medicine & Dentistry and studies potential therapeutic treatments for rare genetic disorders like this one. 

“As a parent myself, it’s really heartbreaking to see the severe forms of spinal muscular atrophy, which generally result in death,” says Kannu. Today, infants suffering from spinal muscular atrophy are able to receive an infusion containing a missing gene, which transforms the disease from a lethal condition to a survivable one, according to Kannu. 

Research to further patient diagnosis and treatment potential is possible thanks to a focus on precision health, which has become a signature area of research at the U of A to advance continual growth in genetic and genomic medical research. 

“We’re very fortunate to be living in this age right now and seeing this incredible transformation of genetic technology,” says Kannu. “The change from five to 10 years ago when procedures such as exome sequencing were first coming into play to now, where we see much more sophisticated sequencing techniques, is remarkable.” 

Our capabilities to diagnose and treat disease, especially rare and incurable diseases, have never been better. Surely the progress is good news for the roughly 400,000 Albertans who suffer from a rare disease. 

It’s going to take time 

Nobody has a timeline for when we can expect mass implementation of precision health research and technology. Sometimes, as Kannu notes, research and implementation can move quickly. But note the path to broad implementation is usually long. One study estimates a 17-year wait before research becomes practise. The wait time between is more speculative due to unforeseen hurdles that can prevent most of the world from realizing the benefits of precision health in our lives. 

The pandemic for example, has resulted in a redirection of funding. But it’s not all bad news, Kannu says. “The widespread use of RNA-based vaccines may actually be a bonus for rare disease treatment in the long run.”

Despite the gap between the lab bench and the patient’s bedside, innovation in precision health is being put into practice by AltaML, a Canadian applied artificial intelligence company. In partnership with American company PROTXX, AltaML created a new benchmark for concussion diagnosis. The project combines head-mounted phybrata sensors that measure motion and machine learning algorithms to enhance movement detection for better concussion diagnosis. 

So while we wait for a highly precise future in precision health care, we can still enjoy some of the advances that deliver relief and give us a glimpse into what’s possible.