Frequently Asked Questions
What is the purpose of this study?
We want to find out if there are benefits to starting with DNA testing (also known as the “OMICS First” approach) when someone is thought to have an “inborn error of metabolism”.
What is an “inborn error of metabolism” (IEM)?
An “inborn error of metabolism” or “metabolic disorder” is an inherited condition. It affects the way the body breaks down food, makes energy, and uses energy. An inborn error of metabolism can sometimes be diagnosed with DNA testing. Other times, it may be diagnosed with tests that look at the body’s chemistry and how energy is made/used.
Who can join this study?
This study is for children and adults. You may be eligible to join the study if:
- You have health problems that may be caused by an “inborn error of metabolism”
- The cause of your health problems has not yet been found
What are the steps to join this study?
You must be referred to the study by a healthcare provider/clinician. This can be a family doctor, nurse practitioner, pediatrician, geneticist (a doctor who specializes in genetics), psychologist, physiotherapist, or other specialists/sub-specialists.
A member of the study team will call you to give you more information. If you decide to join the study, you will be asked to sign a consent form.
If my doctor refers me to the study, what happens next?
You will meet with a member of the study team. This meeting can be in-person, over the phone, or by video call. They will explain the steps of the study and possible benefits and harms of joining; they will also answer any questions you have. To officially join the study, you must sign a consent form.
After consenting to the study, we will review your medical history and any tests you have already had with metabolic/genetic specialists at our weekly triage meeting to decide whether you qualify for our “OMICS First” DNA testing. If you qualify for this DNA testing, it will be done from a cheek swab. If you do not qualify for this DNA testing, you can still be a part of the study.
If I am referred to the study, do I have to join?
No, joining the study is voluntary. This means you can make your own decision about whether to join the study or not, and you do not have to join if you do not want to. You can also stop being part of the study at any time. If you decide not to join the study or you want to leave the study at any time, this will not affect your medical care.
If I join the study, what will happen to my DNA sample?
After your cheek swab sample is collected, it will be sent to Discovery DNA, Inc. (a lab in Calgary). At the lab, DNA testing will be performed. Leftover DNA will be stored at the lab until the end of the study.
If you want your DNA sample removed from the lab or sent back to you at any time, please let the study team know. At the end of the study, any leftover DNA will be discarded (using approved procedures) unless you ask that it is returned to you or moved to another study/biobank.
You are the owner of your DNA, and it is considered to be “on loan” to us for the purpose of this research study. The DNA from your cheek swab sample will only be used for this study. The lab and our study team will not sell your DNA, will not use your DNA to make money, and will not share your DNA with others without your permission.
How can I learn more about the DNA testing in this study?
Our study team will be happy to explain the steps of the study and the types of DNA testing that might be done. You can also check the Resources page here.
What is the chance that this study will find an answer for my health problems?
We think that the DNA testing in this study will find the cause of someone’s health problems (i.e., find a diagnosis) about 25% of the time.
How long will it take to get results?
It will take about 2 weeks to get a result once your cheek swab sample arrives at the DNA lab in Calgary. The lab will send the results to our study team. We will set up a meeting with your healthcare provider or with yourself to explain your results as soon as we are able, but it may take 1-2 extra weeks.
Who will my information be shared with if I join this study?
Your DNA sample and information that identifies you will be sent to Discovery DNA, Inc., a genomics laboratory in Calgary. The study team will also give the lab information about your health problems because this will help the lab interpret your DNA results.
Your DNA data may also be shared with Shared Health Manitoba. In this case, the data will be stored in locations under the exclusive control of Shared Health Diagnostics and will follow all their requirements for safely storing patient data.
What are the possible benefits of joining this study?
It is possible (but not guaranteed) that DNA testing will find the cause of your health problems (i.e., find a diagnosis). This information might:
- Change your medical care
- Allow you and your family to access certain resources
- Help you, your family, and your healthcare providers understand your health problems better
- Tell you the chance that your relatives will have the same health problems
We also hope the information learned from this study will help other people in the future who are thought to have an inborn error of metabolism.
What are the possible harms of participating in this study?
The DNA testing in this study may find the cause of your health problems. This information might cause worry or stress. For some people, this information might affect their decision to have a child, or it might affect other lifestyle decisions. Because inborn errors of metabolism can be inherited, the information might also impact other members of your family.
Sometimes, DNA testing finds other gene changes (called “variants”) that are not related to the reason a person was referred to the study. These gene changes might mean that you are at-risk for or will have other health problems in the future.
Because the results of DNA testing can be worrisome or stressful, you will have access to a genetic counsellor. Genetic counselling helps patients/families assess the pros and cons of DNA testing, as well as cope with the results. This support will be available through the CPMN research study and through the Program of Genetics and Metabolism (Shared Health).