Nav: Home

Personal Genome Project Canada study results show promise for health care in Canada

February 03, 2018

First results from the Personal Genome Project Canada, which sequenced the entire personal genomes of 56 healthy participants, suggest whole genome sequencing can benefit health care in Canada, according to results published in CMAJ (Canadian Medical Association Journal).

"The technology is here now to give us a $1000 genome, we will be at a $100 genome very soon, and everyone may have this done," says Dr. Stephen Scherer, Director of the University of Toronto's McLaughlin Centre and The Centre for Applied Genomics (TCAG) at The Hospital for Sick Children (SickKids). "Family physicians will be involved in interpreting and communicating genomic information to patients in the context of personal and family histories. This requires awareness of the range of potential findings and the strengths and limitations of the tests."

One-quarter (14) of the 56 adult participants who had their entire personal genomes sequenced had genetic variants associated with diseases such as cancer, cardiovascular disease and neurological disease. Thirteen participants (23%) were at risk of potentially life-threatening adverse drug reactions. All had medically relevant findings, including genes for drug reactions, copy number variation of genes involved in mental health conditions, and other genetic alterations that could affect the health of future generations of an affected individual's family.

Individual findings with health implications:
  • A cancer-linked BRAC1 genetic variant was identified in a 65-year-old man whose father had died of prostate cancer.

  • Gene sequencing found a variant in a 49-year-old man that is associated with a manageable condition causing kidney stones or crystals.

  • Chromosome loss in blood cells linked to Turner syndrome was found in a 54-year-old woman who had no clinical manifestations; screening for cardiac or endocrine disorders is recommended in this situation.
Participants were highly engaged in the research study, providing full consent to publicly communicate results. They were offered sessions with genetic counsellors, who are specialists in delivering complex, often nuanced, genetic information, to receive their results in context.

The CMAJ study is the first research paper published since the project's inception in 2007 and has implications for government.

"Canada as a nation does not yet have a national sequencing project for precision medicine like England, the US, Australia and many other countries," says Dr. Scherer. "Our Personal Genome Project could be scaled up, and there are other ways to leverage it as has been done in the US, England and others."

He adds, "We selected CMAJ because we wanted to tell the 'genome sequence' story in the manner most relevant to Canadian medicine, since by definition genetics is personal, and each health care jurisdiction needs to deal with their citizens' data in its own way."

The Globe and Mail has been an active follower of the Personal Genome Project Canada, covering topics on personal genomic screening research. A 2012 Globe series helped to attract and survey volunteer recruits to the Personal Genome Project Canada and raise awareness of Bill S-201, Canada's Genetic Non-Discrimination Act, which is now law.

In a related commentary, Dr. Robert Hegele, Schulich School of Medicine and Dentistry, Western University, London, Ontario, writes that "the study highlights the potential of widespread implementation of whole genome sequencing, including early diagnosis and perhaps an opportunity to prevent or delay disease-associated outcomes or complications, screening of family members and implications for family planning."

Misdiagnosis of disease because of misclassified DNA variants, risk of incidental findings, diagnosis of diseases that have no treatments, and increased resource utilization triggered by a positive diagnosis are all potential pitfalls with this technology.

However, "the potential benefits deserve further careful and intensive evaluation, particularly within the Canadian context," he concludes.
About the Personal Genome Project Canada

The Personal Genome Project Canada was launched in 2007 based on the principles and open consent policies of the initial project in the United States. The project aims to develop a public database of complete genomic information linked to human traits, with a view to integrating DNA-related information into routine clinical practice.

The work was funded by the University of Toronto's McLaughlin Centre, the Canada Foundation for Innovation, Genome Canada/Ontario Genomics, the Government of Ontario, the Canadian Institutes of Health Research (CIHR), Medcan Health Management Inc. and SickKids Foundation.

"Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants" is published February 3, 2018.

Podcast link:

Infographic link:

Canadian Medical Association Journal

Related Genome Articles:

A close look into the barley genome
An international consortium, with the participation of the Helmholtz Zentrum München, Plant Genome and Systems Biology Department (PGSB), has published methodologically significant data on the barley genome.
Barley genome sequenced
Looking for a better beer or single malt Scotch whiskey?
From Genome Research: Pathogen demonstrates genome flexibility in cystic fibrosis
Chronic lung infections can be devastating for patients with cystic fibrosis (CF), and infection by Burkholderia cenocepacia, one of the most common species found in cystic fibrosis patients, is often antibiotic resistant.
A three-dimensional map of the genome
Cells face a daunting task. They have to neatly pack a several meter-long thread of genetic material into a nucleus that measures only five micrometers across.
Rhino genome results
A study by San Diego Zoo Global reveals that the prospects for recovery of the critically endangered northern white rhinoceros -- of which only three individuals remain -- will reside with the genetic resources that have been banked at San Diego Zoo Global's Frozen Zoo®.
Science and legal experts debate future uses and impact of human genome editing in Gender & the Genome
Precise, economical genome editing tools such as CRISPR have made it possible to make targeted changes in genes, which could be applied to human embryos to correct mutations, prevent disease, or alter traits.
Genome: It's all about architecture
How do pathogens such as bacteria or parasites manage to hide from their host's immune system?
Accelerating genome analysis
An international team of scientists, led by researchers from A*STAR's Genome Institute of Singapore and the Bioinformatics Institute, have developed SIFT 4G (SIFT for Genomes) -- a software that can lead to faster genome analysis.
Packaging and unpacking of the genome
Single-cell techniques have been used to investigate histone replacement and chromatin remodeling in developing oocytes.
The astounding genome of the dinoflagellate
Dinoflagellates live free-floating in the ocean or symbiotically with corals, serving up -- or as -- lunch to a host of mollusks, tiny fish and coral species.

Related Genome Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Digital Manipulation
Technology has reshaped our lives in amazing ways. But at what cost? This hour, TED speakers reveal how what we see, read, believe — even how we vote — can be manipulated by the technology we use. Guests include journalist Carole Cadwalladr, consumer advocate Finn Myrstad, writer and marketing professor Scott Galloway, behavioral designer Nir Eyal, and computer graphics researcher Doug Roble.
Now Playing: Science for the People

#529 Do You Really Want to Find Out Who's Your Daddy?
At least some of you by now have probably spit into a tube and mailed it off to find out who your closest relatives are, where you might be from, and what terrible diseases might await you. But what exactly did you find out? And what did you give away? In this live panel at Awesome Con we bring in science writer Tina Saey to talk about all her DNA testing, and bioethicist Debra Mathews, to determine whether Tina should have done it at all. Related links: What FamilyTreeDNA sharing genetic data with police means for you Crime solvers embraced...