Program launched to diagnose genetic diseases in children

Children are disproportionately affected as genetic diseases typically manifest during childhood

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A new pilot program aims to find answers and better treatments for children living with rare genetic conditions.

The Undiagnosed Disease Program, launched in January, is a collaboration between the Women and Children’s Health Research Institute (WCHRI) and University of Alberta researchers from medical genetics and pediatric neurology to provide a diagnosis to patients in the health system who are suspected to have a genetic condition that has not been identified.

Peter Kannu
Peter Kannu

“Patients see doctor after doctor, and usually are treated for their symptoms, but an overall diagnosis hasn’t been made,” explained project lead Peter Kannu, chair of the Department of Medical Genetics in the Faculty of Medicine & Dentistry. “The concept of the Undiagnosed Disease Program has been operational at many other institutions in North America, and it will be a service that caters to these patients here in Edmonton.”

In Alberta, there are more than 400,000 people living with a rare disease. But because there are more than 7,000 genetic diseases, many people are living with unique conditions that don’t affect anyone else in the province. According to Kannu, treatments and hospitalizations without a specific unifying diagnosis to guide them are difficult for patients and costly for the health system.

Using a precision health approach, the program aims to apply the latest advances in research and genetic testing available at the U of A, using “multi-omic” techniques (which look at the genome, proteome and metabolome, among others) to find answers. New genetic tests are able to read the entire body to identify variations in DNA, but about 60 per cent of people affected with a genetic condition test negative after undergoing sophisticated genetic tests.

By combining the information from the genetic test with other factors such as changes in protein or gene expression levels, the team will be able to determine whether an unclassified DNA variant causes a genetic disease in a specific patient, said Kannu, who is also a member of WCHRI.

The program will initially focus on pediatric patients, because they are disproportionately affected as genetic diseases typically manifest during childhood and usually come with neurological symptoms.

“These children may receive numerous hospitalizations, partly attributed to the lack of a unifying diagnosis. We want to use the best and most modern research techniques to provide diagnosis for these children and help physicians provide the most appropriate care for them,” said Kannu.

Alison Eaton

Due to COVID-19 restrictions, the program is running as a virtual clinic, led by geneticist Alison Eaton and pediatric neurologist Helly Goez. Patients are recruited through referral from physicians, and are usually children who have undergone advanced tests available in the health-care system but haven’t been able to receive a diagnosis yet.

The program team is submitting applications to receive more funding. Once the project produces more data, the researchers hope to expand the program to recruit adult patients, and eventually develop and incorporate the genetic testing and multi-omic techniques in Alberta’s health-care system.

Helly Goez and genetic
Helly Goez

“This is really pioneering; the techniques we want to do are not available anywhere else in Alberta,” said Kannu. “Right now, when someone undergoes an exome sequencing test because of a genetic condition, the chance of it being positive with a diagnosis is about 40 per cent. We want to increase the diagnostic yield, and develop new diagnostic tests in our province initially in the research setting, with the expectation that they will be rolled out in the diagnostic labs in the near future.

“By providing a diagnosis of a specific genetic condition, we can empower patients – they now know what they have. This information will facilitate more accurate management of their problem down the track and may eventually lead to the development of a therapy.”

Learn more about rare diseases

Ahead of Rare Disease Day on Feb. 28, the Department of Medical Genetics and the Women and Children’s Health Research Institute are hosting a series of virtual talks with professionals specializing in rare diseases.

Date and time: Feb. 26, 11 a.m. to 2:30 p.m.

Find out more and register for the event.

| By Laura Vega for Troy Media

This article first appeared in Folio, published by the University of Alberta. Folio is a Troy Mediagenetic Editorial Content Provider Partner.


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