Frequently Asked Questions about Genetic Testing
Genetic research is leading to the development of many genetic tests that can be used for the diagnosis of genetic conditions. Genetic testing can be used to diagnose a disease in someone with symptoms, to help determine the risk of developing disease, and (in some cases) may be used for prenatal testing and to determine the best treatment.
The new gene discovery for Parkinson disease provides the option of genetic testing in some families. The following are answers to the most frequently asked questions about genetic testing. It does not replace the advice of a trained professional who will be able to answer questions specific to your family situation. The research discovery will help new pharmaceutical development but it takes time. As yet no specific medications have been made for gene mutation carriers and new treatments can be offered based on this knowledge.
What is genetic testing?
Genetic testing is a type of medical test to detect genetic disorders. Genetic testing is voluntary. Genetic tests are tests on blood or other tissues to identify changes in genes, chromosomes, or proteins. The recent discovery for Parkinson Disease provides the option of a gene test for some families.
What is a gene test?
A gene test is done by looking at changes in DNA in a person’s blood or other tissues. DNA is the blueprint for genes, which are the recipe for proteins. Proteins make our bodies look and work the way they do. The gene test for Parkinson disease is done by looking at DNA changes in a specific gene which, when altered, leads to the eventual signs and symptoms of Parkinson disease in some families.
What information does the genetic test for Parkinson Disease (PD) give?
Genetic testing can:
- Help in a diagnosis if someone has symptoms of PD (diagnostic testing)
- Show if a person has inherited the gene for PD before showing any signs or symptoms (predictive testing)
- Help research advances toward understanding and treating PD
How do I decide whether to be tested?
People have many different reasons for deciding whether to be tested or not be tested. Here are some of the reasons people choose to be tested:
- Planning for the future (eg: finances, career choices, where to live)
- Deciding when or how to have children
- Providing information for other family members
- To relieve uncertainty
- To provide information for research
What are some things you should consider before you have the genetic test for PD?
Because testing has both benefits and limitations, the decision to be tested is a personal and complex one. Consider the implications of having the test and the impact it could have on you and your family medically, emotionally and in terms of life planning. Seek information about the pros and the cons of genetic testing, and the social and emotional aspects from a trained professional, such as a genetic counsellor.
Where do I get more information?
Best to contact your family physician or movement disorders neurologist to discuss local services available to you in your Province.