What is genetic testing?
Genetic testing helps decode the information in your DNA to assist your physician personalize your healthcare.
We all carry genetic variations that influence our risk of developing chronic diseases and impact the way we respond to medications. Genetic testing provides your physician with an in-depth look at the genetic factors that influence your health so that they can make more informed choices regarding your care.
Why is Genetic testing important in prevention, early detection, and during the course of treatment?
GeneYouIn provides two services, VitaSeqTM and PillCheckTM which can help in prevention, early detection, and the management of chronic diseases.
VitaSeqTM for Prevention and Early Detection:
Chronic conditions such as cancer, heart disease and stroke are the most common health problems facing Canadians today and often have a hereditary component. These conditions are often diagnosed only when symptoms develop, and the damage has already begun. GeneYouIn’s VitaSeqTM genetic test for hereditary disease and chronic illnesses alerts you and your doctor to the genetic warning signs, before you develop symptoms, so that you can take steps to decrease the severity of disease or sometimes avoid it altogether.
PillCheckTM for Managing Treatment:
More than 75% of people have genetic variations that determine how their bodies process and use drugs. This applies not only to prescription medications, but also to over-the-counter medications, supplements and even coffee! Because of these genetic differences, two people can take the same dose of the same drug, but respond in very different ways. The drug might work very well for one person, but cause adverse side effects for another. GeneYouIn’s PillCheckTMgenetic test identifiesthe Right Medication at the Right Dose for you.
How different is your technology and why should patients choose you?
GeneYouIn’s genetic tests use two different technologies.
Our VitaSeqTM genetic test uses state-of-art whole exome sequencing because it gives you and your doctor the level of detail necessary to make accurate assessments of inherited disease risk that is not possible with the standard SNP genotyping assays available from our competitors.
Whole Exome Sequencing:
Proteins are biomolecules that perform the functions that give us life, and the malfunctioning of certain proteins can result in diseases. The exome is the ‘protein-coding’ region of our DNA and about 85% of the DNA variations that cause disease are located on the exome. As we sequence the entire protein-coding region, we identify ‘known’ as well as ‘novel’ variations in your genome. Sequencing of the exome has been successfully used to identify disease-causing variations in a diverse variety of diseases.
The PillCheck™ test looks at genetic variation in a specific set of genes involved in helping your body process medications. PillCheckTM currently analyses more genes and covers more medications than any tests offered by our competitors and we are working to add to those numbers as clinical evidence is published.
Our SNP genotyping technology looks only at specific regions in specific genes that encode proteins which process medications. By identifying these well-documented DNA variations we predict how your body will react to certain medications and help your doctor optimize your prescriptions for maximum safety and efficacy.
On analysing the exome sequence of a client in his mid 40’s, we identified a novel variation in the RNF213 gene, a gene associated with the Moyamoya disease. People with deleterious variations in this gene have a 100-fold increased risk of stroke.
Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain. Symptoms include aneurysm, hemorrhage, and stroke. ‘Moyamoya’ means “puff of smoke” in Japanese, a reference to the characteristic wispy, tangled appearance of tiny new blood vessels, which form to compensate for the blockage. Moyamoya occurs in 3 out of 100,000 people in Japan and other Asian countries, but it is less prevalent in North America. The disease primarily affects children, but can also occur in adults.
Computational analysis predicted the novel RNF213 variation to be ‘probably harmful’.
During client consultation we explained that the presence of this novel variation could substantially increase the risk of brain haemorrhage – and enquired if our client had a family history of hemorrhagic stroke. Our client acquainted us with a painful chapter in his past – losing a child to a brain aneurysm. This confirmed our suspicion that the novel variation is indeed pathogenic and should be monitored. Our client was strongly advised to notify his family physician, who would be better prepared to help our client should he begin to show signs of stroke.
Our client shared his GeneYouIn Exome Analysis Report with his family physician, who recommended follow-up actions – further screening of the client’s family to identify members to be assessed by MRI scanning and monitoring by a hemorrhage stroke/aneurysm specialist.
Our client’s exome analysis uncovered a serious genetic condition in the family, revealing critical information necessary for early intervention and disease management to his family physician. Fortunately, surgical repair of brain arteries is an option for patients with aneurysms, which combined with careful monitoring of both the client and his family members by their family physician, bodes well for their prognosis.
“Knowing what you are genetically pre-disposed to is like having a map of what dangers to look out for”
“….The psychiatrist was very open to learning from the (PillCheck) report. Her take was it is better than guessing or going on past experience with others.”