Mutations May Impact One ’ s Type of Disease
No one with Parkinson ’ s has the same disease experience . Even people with the same genetic mutation experience Parkinson ’ s differently , such as showing different symptoms . There are some trends , though . A mutation in the PRKN gene , for example , is associated with young-onset Parkinson ’ s ( before age 50 ). Scientists are studying these known genetic connections and looking for other genes or biological or lifestyle factors that may influence when and how people get Parkinson ’ s disease .
Genetic Testing Is Primarily for Research , Not Care
As of this writing , genetic testing for Parkinson ’ s disease ( PD ) is most commonly performed in the context of a research study because results don ’ t alter your personal medical care . If you have PD , finding out you have a mutation will not necessarily tell you about your future symptoms or disease course , nor will it impact which Parkinson ’ s treatments you take . This may change as therapies targeting specific PD mutations move through the pipeline of clinical trials . And knowing your status can get you connected with genetic trials in the first place .
For those who don ’ t have Parkinson ’ s , interpreting genetic testing can be a bit tricky . Testing positive for a genetic mutation doesn ’ t guarantee that you will develop PD , and different mutations raise risk to different degrees . On the other hand , a negative test does not mean you won ’ t get Parkinson ’ s . It ’ s likely that many mutations linked to PD have not yet been discovered . And we have much to learn about how environmental factors interact with genetics to raise or lower the risk of PD . ( See “ Parkinson ’ s Genetics 101 ,” pg . 30 .) Without a cure for PD or a way to prevent it , some people would rather not know their genetic information . Others , both with and without Parkinson ’ s , have used this data to inform healthy lifestyles and participate in certain clinical trials .
Individuals pursue genetic testing outside of research — through their doctor or through an online service — for various reasons . People with PD might want to understand the likelihood of passing on a mutation to their children and those with an affected family member may be concerned about their own risk of Parkinson ’ s . Sometimes people have no connection to Parkinson ’ s and are simply curious about what information their genes hold .
Genetic Research Has Benefits and Risks
Some genetic studies look at one particular gene ; others sequence all of your genes ( i . e ., your genome ). Participating may involve little more than giving blood or providing a saliva sample , which sometimes can be done from your own home . If researchers need additional information to go along with genetic data , they may interview you over the phone , examine you in person or conduct other laboratory or imaging tests . During the informed consent process of these studies , all procedures , including how your genetic data will be collected and stored , and if your samples of genetic information may be used for future research , will be discussed . You ’ ll also go over potential risks and benefits of participation , as well as whether you ’ ll have access to your genetic results and a genetic counselor who can talk to you about the risks and benefits of genetic testing and research participation . ( See “ What Is a Genetic Counselor ?” pg . 37 .)
Potential risks may center primarily on your genetic information . Test results , particularly if unexpected , may cause stress or anxiety . And although confidentiality and security are maintained to the highest levels , accidental data sharing may be a concern . In the United States , the Genetic
Information Nondiscrimination Act prevents employers and health care insurers from treating you unfairly based on your results . But these protections do have some important limitations . ( See “ What to Consider before Genetic Testing ,” pg . 36 .) Other countries may have similar laws governing genetic information ; check with your personal health care provider .
The decision to participate in any research is a personal one , but genetic research may bring additional considerations for you and your loved ones . A discussion with your doctor or genetic counselor can help address concerns you might have before deciding to participate in genetic testing or research .
Remember fact 4 : Research Participation Brings Risks and Benefits .
34 Navigating Clinical Trials : A Guide for Parkinson ’ s Patients and Families