Patients & Families

What is risk assessment genomic testing or polygenic risk score?



In single-gene disease, 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 or recessive and autosomal or sex-linked. Common diseases, including type 2 diabetes and its complications, are polygenic diseases meaning that many genes and environmental factors influence disease susceptibility and development. Rapid advances in Genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the healthcare system. Risk assessment for common diseases is an essential part of genetic testing that refers to the probability (a polygenic risk score) of an individual carrying a specific disease-associated genomic profile, to have or not the disease. 



What is the difference between pharmacogenomic testing and risk assessment testing?


Pharmacogenomic testing analyzes a person’s DNA and provides information on how that person’s 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 assess whether the genomic profile of an individual increases his/her risk of developing a certain disease or its complications such as T2D renal complications over a defined period of time. 



Will your test give me some information about which medications will work for me?


This test will not give you information about which medications will best work for you. However, prediction of risk prior to the development of complications is crucial to enable targeting individuals that could benefit from an early intervention.  If you are classified as a high-risk patient, an early intervention that consists of intensive control of blood pressure and glycemia with existing medications  has been shown to be effective in reducing diabetes complications.



What is the difference between this test and other genetic tests, such as 23andMe, Ancestry, Myheritage?


Initially sold to tell who you are and how you’re connected to populations around the world, the test 23andMe Type 2 Diabetes Health Predisposition or Myheritage provide an estimate of  likelihood of developing type 2 diabetes based on genetic profiling and other factors. 23andMe can tell you if your genetics are associated with a higher than typical likelihood of developing type 2 diabetes. 

The OPTITHERA polygenic risk score is unique in the sense that it is intended to assess the risk of renal or cerebral, cardiac and vascular complications in a person who already has diabetes or in a subject with pre-diabetes.



How will my doctor use the information provided by the OPTITHERA Personalized reports?


The OPTITHERA personalized report provides information about your genomic predisposition that could influence your risk of developing one or several of the  following main complications of diabetes: renal, stroke, myocardial infarction, heart failure and retinopathy. They are not for diagnosis. Other factors like 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 insights into your condition for better treatment choices.



Are your genomic test services covered by  Health Services Plan?


Our genomic test services are not yet covered by Medical Services Plan but may be covered by your personal insurance.



Do all genomic tests lead to actionable treatment options?


If you are a patient at low risk for one or several of diabetes-related complications, your physician should be encouraged to follow local therapeutic guidelines related to this complication and avoid unnecessary medication. Although it is often assumed that all patients should receive treatment, considerations of cost and adverse side effects suggest avoiding unnecessary treatments and expenses to you and society.

If your risk is medium for a complication, your physician could increase surveillance and consider concomitant diseases, family history, physical activity and adjust your medication accordingly. 


If you are a patient at high-risk for one or several  diabetes-related complications, OPTITHERA actionable report offers the incentive to your physician to start earlier preventive measures, in the form of medical or lifestyle modifications to prevent or delay these complications. Our analysis of the ADVANCE trial showed that individuals at high risk are those with the highest response rates and recent studies have shown that higher prevention rates are most attainable if therapy can be targeted to individuals predicted to have the highest response rates. 


When should I get tested?


The maximum benefit from testing is as soon as you are diagnosed with T2D, as early intervention is the key to  avoid developing devastating complications of T2D. If you are diabetic for several years, discuss with your physician whether you or your family can benefit from genetic risk evaluation.



What should I expect when I order the test?


Your role in the performance of the test is to provide a short personal  health report and a saliva specimen. The saliva specimen collection process is safe and quick.  OPTITHERA will make all efforts possible to protect your confidentiality. Do not hesitate to ask us or your healthcare provider, what test is being performed, why the test is needed, what you can expect the procedure to be like, when you can expect to hear about your test results, and how the test results will affect the course of disease and care.



Do the tests apply to other types of diseases apart from diabetes and its complications?


The test has been developed and calibrated specifically for patients with T2D or subjects with pre-diabetes.



How will I get my results


Once you’ve purchased the OPTITHERA test, we will ship you a DNA sample collection kit  from saliva within 2-3 business days or indicate you if you can obtain the saliva kit locally. After your saliva sample is received at OPTITHERA, you should allow 10 to 14 days for delivery of your results. At that time, your physician and you will receive an email from OPTITHERA that will direct you  to a secure portal where you will be able to visualize your results.



Are my laboratory test results confidential?


All tests results are highly confidential. OPTITHERA  has strict guidelines to ensure that only you and the healthcare professional of your choosing receive your test results. If your healthcare provider requests that we forward your results to another clinician, we will do so with your consent only. For more information, please see our Privacy Policy



Will OPTITHERA send the saliva collection DNA kit to a P.O. Box?


OPTITHERA can ship test kits to P.O. boxes in Canadian territories.



How will I provide my sample?


The saliva collection DNA kit you will receive to collect your saliva sample includes, step-by-step instructions on how to perform saliva sample collection

You can also watch A DEMONSTRATION VIDEO (hyper link) showing you how to provide your saliva sample.



Do I need to fast before I provide may saliva sample?


No, you do not need to fast but you need to  follow the instruction concerning the last meal.



How quickly do I need to return my sample ?


We encourage you to send back your sample as soon as you have done your saliva collection. This will ensure that your test results are returned to you and your physician as quickly as possible.



Healthcare professionals




Note: Our PRS showed better risk prediction compared to traditional clinical risk scoring using UKPDS or Framingham Score, and led  to a lower number needed to treat (NNT). This is important because our PRS was also the best to identify high risk patients who benefit the most from intensive therapy in the ADVANCE clinical trial. 

(Reference Tremblay J et al Nature Comm under consideration). Non-modifiable markers included in our  PRS will be measured only once, early after T2D diagnosis. The advantage of PRS is that genomic markers remain stable throughout life and can predict the genetic risk of disease at any age before the disease.



What are the outputs of preventive measures?


Medication are:  combination of (ACE) inhibitors and diuretics or combination of CCB and diuretics. Note: The highest benefit of treatment was confined to the highest genetic risk category. Reference ADVANCE Lancet, ADVANCE-ON NEJM.



How did you test the correctness of these tests?


OPTITHERA’s PRS test is based on 600 common genomic variants proven to be associated with diabetes complications and their risk factors in recent studies including over 1.2 million individuals.

OPTITHERA’s PRS and algorithm have been developed using  4100 patients with T2 diabetes followed during five years in ADVANCE trial and an additional 5 years (total 10 years) in ADVANCE-ON observational study. 

OPTITHERA’s  PRS test has been validated in three large independent population-cohorts from Canada and Europe.



What are the approvals or certifications taken for proving the reliability of these tests?


The test is Laboratory Developed Test (LDT) as an in vitro diagnostic test performed in a Clinical Laboratory Improvement Amendments,  CLIA-like laboratory. The reports are signed by an approved health professional. FDA-authorization is underway.



Are there any countries or hospitals using these tests?


The tests started to be used in several clinics including Medpharmgene, Quebec, Canada in 2019. It will start to be used in the rest of Canada, and European countries in 2020.



What are the consumables for the tests?


Saliva DNA test consumable kits together with sample collection procedure sheet, patient questionnaire and patient consent form are provided by Optithera with return mail address.



How is the evaluation and assessment process ?


Two weeks from the time of DNA kit received at OPTITHERA in Canada. 



How are these tests done? What is the method and procedures?


Most common diseases can be captured by common variants, that are detected by whole genome genotyping approach.  The request includes some demograhic data such as age, sex and other clinical data related to diabetes. OPTITHERA’s algorithm combines genomic and non-genomic data to generate a polygenic risk score.