January 26, 2021

Peter Kannu on the innovative field of precision health

Photo supplied by Peter Kannu.

Peter Kannu is chair of the Faculty of Medicine & Dentistry’s Department of Medical Genetics and the Alberta Health Services zone section chief for the medical genetics clinic.

He is also a leading expert in genomic medicine, the study of our genes and their interaction with our health.

As the inaugural presenter for WCHRI’s new Precision Health Research Seminar Series, Kannu sat down with us to discuss precision health and explain how the University of Alberta is a leader in this signature area.

What is precision health and why is it important for the future health of women and children?

Precision health is something that’s transforming our service delivery in health by enabling early diagnosis, personalized treatment and management of diseases. This is especially important because there are over 400,000 people in Alberta who are affected by genetic diseases. In fact, there are over 7,000 distinct genetic diseases in our population. Individually, these diseases may be rare, but collectively, genetic disease is not that uncommon.

One of the important aspects of precision health for us in genomic medicine is the impact this strategy will have on our ability to diagnose patients using genetic tests that sequence the entire DNA in a person.

Children are disproportionately affected by genetic disease and also account for both a large percentage of pediatric hospitalizations and healthcare costs. Many of these children take a while to be diagnosed simply because their underlying condition is rare. This means that they end up being seen by multiple professionals and accumulate a lot of healthcare costs simply because diagnosis is difficult.

In terms of the implications for women, newer genetic testing approaches such as a `liquid biopsy’ have the potential of revolutionizing cancer care. Instead of a tissue biopsy, a liquid biopsy relies on a drop of blood to diagnose a tumour and provide information on therapies that will be useful for treatment.

Genetic testing is also important to provide an accurate genetic diagnosis in an individual who is at risk based on their blood relationship with the affected individual. Testing not only facilitates timely identification of a patient who is at greater risk, but it might also enable them to receive targeted therapy that is appropriate for their condition.

A final point to make about genetic testing is its utility in the provision of accurate reproductive risk counselling, for people who want to know whether there’s a chance of a particular genetic event happening again in their future offspring. Some people only want to know so that they can be in control of the situation and explore options that are available to them.

All of this starts with our ability to provide a diagnosis using a genetic test.

How is the University of Alberta a leader in precision health?

The U of A currently has several initiatives in precision health, from artificial intelligence and pharmacogenomics—studying how genes affect a person’s response to drugs—to public health and therapeutics—like working to develop a COVID-19 vaccine or clinical trials.

One aspect of personalized medicine that’s currently ongoing at the U of A is in the area of pharmacogenomics. Researchers are looking at how different drugs are metabolized by individuals and using genetic information to assist them in this task. We hope that this information will soon help practitioners determine which drugs are the most effective for an individual and which ones may have side effects.

In the area of therapeutics, the U of A is at the forefront of clinical trials for ultra-rare diseases, some of which only impact one in every 2 million children. We have a number of clinical trials getting started in this area and are looking to expand our footprint in the Rare Diseases world utilizing the well developed clinical research infrastructure on site.

A new clinical research program called the Undiagnosed Disease Program is currently being developed in partnership with WCHRI and the departments of medical genetics and pediatrics.

This Program is precision health research at the point of care and is organized around a new outpatient referral clinic for children with undiagnosed conditions who are suspected to have a genetic cause.

What is the Undiagnosed Disease Program?

Precision health has revolutionized diagnosis by introducing genetic tests that sequence DNA in order to discover genetic differences, anomalies or mutations that may prove pathological.

There are thousands of DNA variants identified by genomic sequencing, which makes it very difficult for us to analyze the data and to only identify a variant in the DNA that is disease-causing. So it means that for many of the variants, our laboratories cannot predict where the DNA change is benign or disease-causing.

Although genome sequencing has really changed our ability to diagnose genetic disease, up to 60 per cent of people tested do not receive a diagnosis which means that they’re still searching for a diagnosis.

The Undiagnosed Disease Program has been set up primarily to look after individuals who fall into this category—people who have had the state of the art genetic testing and remain undiagnosed.

With this program, we’re taking a multiomics approach and focusing not only on DNA, but also RNA and metabolic profiling, and analyzing all this data to triangulate a genetic etiology that really cannot be determined using one single test alone. This undiagnosed disease program will be the signature clinic where patients with an unknown genetic condition are seen and triaged for this very modern approach.

How can researchers become involved in and collaborate with others in precision health?

This is a very important question! The precision health initiative is a mammoth undertaking that cannot be executed by a single person—we all need to work together. Being able to communicate our ideas out to researchers so that everyone has the opportunity to join in and contribute in a meaningful way. Collaboration really is key.

We are acutely aware that folks all around campus will want to participate by may find it difficult to figure out what is going on and where. With this problem in mind, WCHRI is developing a Translational Genomics Hub which will facilitate communication amongst other things to help address this problem. We anticipate the hub will centralize information about all genomic initiatives on campus and in the Province so that researchers will have an easier task identifying potential collaborators.

As we see the precision health initiative at the U of A consolidated and an umbrella program developed, along with communication channels, that should lead to more collaboration.

WCHRI’s Precision Health Research Seminar Series has new topics every month. Register for an event!