In a single-gene disease, such as cystic fibrosis, a mutation in just one gene is responsible for the disease. These diseases are usually rare, as only carriers of the mutation will have the disease. The inheritance pattern can be dominant, recessive, autosomal or sex-linked. Common diseases, including type 2 diabetes and its complications, are polygenic diseases, which means that multiple genes and environmental factors influence susceptibility to contract and develop the disease. Rapid advances in genomics are transforming medical practice, resulting in significant growth of genetic testing in the healthcare system. Risk assessment for common diseases is quickly becoming an essential part of genetic health risk testing. It aims to assess the probability (through a polygenic risk score) of an individual with a disease-specific genomic profile to develop the disease or its associated complications before clinical symptoms appear.
Pharmacogenomic testing analyzes a person’s DNA and provides information about how their body and certain medications interact. It combines pharmacology (the science of drugs) with genomics (the study of genes and their functions) to help predict which medications and dosages may work best for an individual. Risk assessment testing determines whether an individual’s genomic profile increases their risk of developing a certain disease or associated complications, such as type 2 diabetes renal complications, over a defined period of time.

The OPTITHERA polygenic risk score is uniquely designed to assess the risk of renal, cerebrovascular or cardiac complications in a person who already has diabetes or is pre-diabetic. It is not like other tests on the market, which only indicate if you are likely to develop type 2 diabetes. Our test is for patients who already have type 2 diabetes and want to know more about the possible progression of their disease to inform a more personalized and effective treatment plan.

The OPTITHERA personalized report provides information about the genetic information from your saliva that might indicate your risk of developing one or more of the following leading complications of diabetes: kidney failure, stroke, heart attack or heart failure. Other factors such as lifestyle, environment or other genomic markers not covered by this test could also play a role. However, this report can provide you and your doctor with more information so that they can provide you with optimal personalized care.

All scores are highly confidential. OPTITHERA has strict guidelines to ensure that only you and your healthcare professional receive test results. If your physician requests that we forward them to another clinician, we will only do so with your consent. 

If you have type 2 diabetes and are not at risk for any diabetes-related complications, your physician should still encourage you to follow therapeutic guidelines for your situation. Your physician should take into account any diseases you may have, along with your family history and physical activity, and may decide to adjust your treatment accordingly.

If you are a patient at risk for one or more diabetes-related complications, OPTITHERA’s polygenic risk score report will provide resources for your physician, who may consider recommending preventive measures earlier, such as medical treatment or lifestyle modifications, to prevent or delay the onset of these complications.

This test will not provide information about which medications will work best for you. However, predicting risk prior to the development of complications is crucial for identifying individuals who could benefit from early intervention. If you are considered at risk, early intervention, including intensive blood pressure monitoring and blood sugar control with existing medications, will be effective in reducing complications from diabetes.

The test was developed and validated specifically for patients with type 2 diabetes or pre-diabetes.

As of May 2022, our genomic test services are not yet covered. OPTITHERA is working with healthcare providers to procure coverage.

As soon as you are diagnosed with type 2 diabetes by your doctor. Early intervention is the key to preventing complications. If you have had diabetes for several years, talk to your physician about polygenic risk assessment as soon as possible.

Announcements will be made in the near future regarding the availability of OPTITHERA tests.


The results of this test should be reviewed with your physician.

Do not make any changes to your current medical treatment or lifestyle without first consulting your physician. Although this is a predictive test developed to indicate whether you may develop diabetes-related renal or cardiovascular complications, it does not mean that you will necessarily develop these complications. This test should be used as a tool to assess your likelihood of developing renal or cardiovascular complications, and your medical treatment should be reviewed accordingly with your physician.

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2815 Sherbrooke Street East, Suite 240
Montreal, Quebec, Canada  H2K 1H2

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