Many Albertans are impacted by mental health disorders or know a loved one who is. Mental health disorders are complex, with numerous genetic, social and environmental factors, and it can be hard to predict how a patient will respond to different medications or strategies. For some Albertans, finding a more direct path to an effective treatment plan is a matter of life-or-death.
Thankfully, genetic testing holds great potential for improving mental health care in the province, and the emerging field of pharmacogenetics is positioned to provide critical information on which medications will work for which patient.
Just as your DNA affects your height, eye and skin colour, your genetic code also affects how your body produces the enzymes which break down drugs. Because of their unique genetics, some people will metabolize specific drugs more slowly or more rapidly than others, which impacts the effectiveness of medication. Others may have a genetically-linked enzyme deficiency which prevents them from metabolizing a drug altogether.
In Alberta, personalized genetic testing is not new. While pharmacogenetic testing of drug-metabolizing enzymes to guide prescribing practices has not yet been adopted, genetic and genomic testing is integrated into cancer and rare disease care. For example, testing is used both for hereditary cancer risk assessment and to inform treatment decisions, mutation testing now guides targeted cancer therapies, and genome sequencing supports the diagnosis of rare diseases. This offers a model of how publicly funded genomic testing can be integrated into the healthcare system in Alberta.
Genetic testing is also available for Albertans with neurodevelopmental disorders like autism. This includes a chromosomal microarray (CMA), which detects missing or extra sequences in the patient’s genetic code. The results of a CMA can help explain the cause of the patient’s health condition – for instance, detecting rare genetic factors which are known risk factors for autism. In Alberta, any specialist physician can order a CMA for patients with autism, an unexplained global developmental delay and/or intellectual disability, or a combination of neurodevelopmental disorder and another health condition.
With such frameworks for genetic testing already in place, and patients and providers eager for better data to guide their treatment decisions, why do we not see more widespread adoption of pharmacogenetic testing? One challenge is physician education. Many providers lack training in psychiatric genetics, which makes it challenging for providers to access, interpret, and apply the findings in practice. Physicians may also be unaware of what testing options are available or which patients are eligible. This is a likely reason why the current CMA testing available for patients with neurodevelopmental disorders hasn’t seen larger uptake; researchers at the University of Alberta found that despite the vast majority of families agreeing to testing when it is offered, less than 3% of eligible patients receive testing.
Another challenge for integrating pharmacogenetics into the healthcare system is the nature of the data itself. Genetic testing for psychiatric care is not routine, and with no standard format for organizing and reporting the data, each testing laboratory takes a slightly different approach. While providers can easily access the results of a blood test, urine sample, biopsy or just about any other lab test through their patient’s electronic medical record, the non-standard pharmacogenetics data is not designed for these systems.
Thankfully, researchers at the University of Calgary are working to solve this hurdle and bring personalized pharmacogenetics to Albertans. The PGx-EFAIR project, funded by Genome Alberta, aims to standardize pharmacogenetics data and integrate it into patient care in Alberta and BC. The goal is to make the data easy for healthcare providers to access within the existing healthcare data infrastructure. This means working collaboratively with provincial governments, health authorities and industry partners to help pharmacogenomic data mesh with the systems that hold all other critical patient data. The team will achieve this by developing:
- A standardized data format for pharmacogenomics testing results
- Specialized software to translate patients’ genetic data into the standardized format
- A set of data exchange protocols to ensure the data is integrated seamlessly into patients’ electronic medical records
With these systems and tools in place, healthcare providers will have their patient’s genetic profile at their fingertips, allowing them to optimize their treatment plan based on how different medications interact with their patient’s unique genetic code. Genome Alberta is also initiating a multi-stage engagement process to support knowledge sharing across organizations and individuals involved in mental health. Through these combined initiatives, the intent is to rapidly accelerate the adoption of personalized medicine in mental health – not just in BC and Alberta, but in Canada as a whole. For Canadians struggling to find effective mental health treatment, this shift could truly transform their lives.
See our Project Portfolio to learn more about projects Genome Alberta has funded in Health and Mental Health.
