Finding the cause of rare diseases

The Challenge

Genetic diseases, while often rare, have, in aggregate, an enormous impact on the well-being of Canadian families, affecting the lives of approximately 500,000 children. The majority of genes causing these conditions are still unknown. These parents go through cycles of treatment and cost the health care system an inordinate amount of money considering the percentage of people affected. There is often no cure or any therapeutic treatment because the causes are unknown.

Genomics solution

Dr. Kym Boycott and collaborators used DNA sequencing to determine the causes of rare diseases that were put forward to the consortium by physicians across the country who deal with patients. The determination of the gene causing the diseases will then lead to a screening test for those particular disorders and also potential therapy options should the gene be identified in a well-known cellular pathway that drugs may have been designed for.

77 disorders were identified and four novel therapies were determined from this work. On a broader scale it showed the utility of these new genomic technologies to the clinical and to providing personalized care. While the economic modelling has not been done, the ability to know what gene causes a particular disorder and whether there is any therapy, will reduce the repeat visits to the clinic for the patients. In terms of quality of life, it is clearly of great benefit to the patients to get this information.

More information

First ever use of pharmacogenomics in primary care

Challenge:

Mental illnesses are the result of a complex interaction between genetic and environmental factors. The recovery of people experiencing mental illness is a critical consideration for the Canadian healthcare system:

  • During lifetime about 20% of Canadians will experience some type of mental illness
  • Major depression (8%) and anxiety disorder (12%) are the most prevalent
  • At any time approx 10.4% of Canadians are suffering from acute or chronic mental illness
  • 79% of all short term disabilities and 82% of long term disabilities are related to mental illness, costing Canada $20.7 billion in 2012. (Conference Board of Canada estimate, July 2012).

However, many prescribed drugs are only effective about half the time, so finding the right medication is often the result of an ineffective trial and error approach, exposing patients to the risk of serious side effects and sustained suffering.

Genetic testing identifies patients who will not respond to specific medications or will experience side effects, thereby helping physicians prescribe the most appropriate drugs to each patient: maximizing the health benefits and decreasing the risk of side effects.

Genomics solution

Assurex Health is partnering with scientists at Toronto’s Centre for Addiction and Mental Health (CAMH) to develop the Enhanced GeneSight genomic test to better match patients with mental illness to antidepressant and antipsychotic medication based on their genes.

This project, funded through Genome Canada\’s GAPP program, will deliver genetic testing in the primary care setting to determine the best medication for each patient based on their unique genetic profile. Patients are asked for a sample of saliva or a cheek swab, from which DNA is extracted. This DNA is tested for a number of genes that control how drugs are metabolized, how drugs interact with their targets in the body and their side effects. A report is delivered to the patient’s physician within a day or two. This report, using Assurex Health’s GeneSight panel, helps guide the physician as to which of antidepressant or antipsychotic drugs are best suited to that patient – enabling them to thereby avoid ineffective medication and reduce unnecessary side effects.

The GAPP project will validate new genomic markers that scientists at CAMH have identified for their ability to predict efficacy and side effects of psychiatric medications, including those that predict which individuals are likely to experience weight gain after taking anti-psychotic medications. The most predictive markers will be integrated into E-GeneSight. This is anticipated to reduce the need for “trial-and-error” approaches to prescribing and increase the likelihood that people will respond optimally to the medications prescribed for them, while reducing side effects.

Impact

Giving patients the right medication earlier can reduce the burden of mental illness for patients and their families, decrease the risk of detrimental side effects, and improve the quality of life of those affected by mental illness. Furthermore, reducing ineffective treatments will save the health care system money: decreasing physician visits, and reducing rates and length of hospitalization. Patients who recover faster need fewer healthcare dollars, are able to return to work (contributing to the tax base) sooner, and assume their role in their family and community.

Collaborators

Assurex Health, a global leader in personalized medicine, has signed an agreement for a joint venture with the Centre for Addiction and Mental Health (CAMH).  AssureRx Canada has been established as a subsidiary of the U.S. company, and will have an office and laboratory at CAMH.

 

Read the project description.

Three OG seeded companies get additional funding

InDanio Bioscience, Encycle Therapeautics made new research partnerships for research and drug development and RNA Diagnostics received angel investment.

Two SMEs, InDanio Bioscience and Encycle Therapeautics will partner with Toronto researchers and provide in-kind contributions to the $1.5M funding by CQDM and CIHR, through its institutes of Cancer Research, Genetics and Infection and Immunity medicine, for two translational projects in personalized medicine to accelerate drug discovery and drug development. In addition, RNA Diagnostics, a Sudbury-based medical diagnostic company, has successfully closed an additional round of angel investment with support of the NORCAT Innovation Mill Angel group. The Ontario Genomics Institute\’s Pre-commercialization Business Development Fund (PBDF) funded RNA Diagnostics in 2012, InDanio Bioscience in 2010.

More Canadians to benefit from personalized cancer treatment

Personalized cancer treatment requires complex clinical laboratory testing to determine a tumour’s genetic profile. The Princess Margaret Cancer Centre, a leader in providing this testing for its patients, and LifeLabs Medical Laboratory Services have begun working together to expand this testing capacity to more Canadians.

The Princess Margaret Cancer Centre (PMCC) has teamed up with Ontario-based LifeLabs Medical Laboratory Services (LifeLabs) to expand the availability of cancer genome profiling across Canada, with funding from Genome Canada. This will improve access to personalized cancer treatment for patients across the country.

Cancer genome profiling is emerging as an essential step in modern cancer care. The percentage of patients whose tumours were driven by genetic mutations that could be targets for tailored cancer therapeutics range from 21% (head and neck tumours) up to 73% (melanoma), according to a Personalized Medicine Coalition report. In fact, tumour classification is changing from being based on the tissue of origin to being based on the underlying genomic alterations, making it critical that patients across the country have equal and timely access to appropriate testing. And as discussed in an accompanying article “Can personalized cancer care be cost-effective?” this type of testing can lead to better outcomes as well as save healthcare dollars.

Major treatment centres such as the PMCC have been at the forefront of developing and applying new tumour genetic profiling tests for their patients. However, access to these tests outside such major cancer centres is difficult due to the complexity of the tests.

For this project, Dr. Suzanne Kamel-Reid at the PMCC and team will combine their expertise in next-generation sequencing for clinical tumour profiling with LifeLabs’ expertise in specimen collection, their transportation network and logistics capabilities. They will also develop a secure cloud-based cancer genome analysis infrastructure to be able to store and share information between the two groups. The combined expertise and resources will expand the availability of such tests across Canada including rural areas and community hospitals.

By: Kathryn Deuchars, Director, Ontario Personalized Medicine Network