Parkinson ’ s Risk Factors continued
Section 02 — Understanding and Living with Risk Factors
Parkinson ’ s Risk Factors continued
Still , not everyone with a LRRK2 or GBA mutation , even in these special populations , goes on to get PD . And for those who do , the symptoms of PD — when they come on and how they change — vary widely . Studying people with genetic links to Parkinson ’ s helps researchers learn how and why disease starts , which helps them develop new , more personalized treatments and ways to prevent disease .
If you know that you are carrying a genetic mutation linked to PD , you can play a truly irreplaceable role in accelerating better treatments that will benefit everyone living with Parkinson ’ s now and in the future . The key is to seek out ongoing research studies , which urgently need people like you and will highly value your participation . One such study is PPMI .
What you can do :
+ Know what genetic testing does and doesn ’ t tell you Genetic testing has come a long way in just the last few decades . It ’ s incredible that you can send in a sample of saliva and receive detailed information about your genes . But it ’ s important to realize what genetic testing can and can ’ t tell you .
– A genetic test can tell if your DNA puts you at relatively increased risk for Parkinson ’ s . It cannot tell if you have Parkinson ’ s or predict whether you will get it .
– Most available direct-to-consumer genetic tests check for some , but not all , currently known Parkinson ’ s mutations . They may look only for the most common mutations , such as those in the LRRK2 or GBA genes . While informative , these results are not a complete look at your genetics and Parkinson ’ s . When considering testing or reviewing your results , make sure to find out what mutations are checked .
– Even if your test is negative for all currently known mutations , it doesn ’ t guarantee that you don ’ t have other risks for PD . These could include not-yet-identified mutations or environmental exposures .
– Genetic testing cannot replace personal advice and care from your health care provider ( including a genetic counselor , if you choose to seek one out ; read more below ). They can provide much more context and information to help you understand what your genetic testing results mean for you and your loved ones .
+ Meet with a genetic counselor A genetic counselor is a medical professional who is trained to help you understand your genetic profile . This includes genetic risks for diseases such as Parkinson ’ s . They can help you understand your individual risk of disease as well as your specific chance of passing a gene change to your children .
Many direct-to-consumer tests and doctor ’ s offices provide genetic counseling . If possible , it ’ s best to meet with a genetic counselor both before and after testing . Before , they can walk you through benefits and risks and outline what to expect . After , they can guide you through your results and help define next steps . If you haven ’ t yet met with a genetic counselor , ask your doctor to recommend one or search an online directory for someone in your area .
The National Society of Genetic Counselors maintains a database at findageneticcounselor . com .
Look for a genetic counselor who specializes in working with adults or neurological diseases . And check with your health care insurer about coverage and potential costs .
+ Join the genetic research revolution People with a PD genetic link but without a Parkinson ’ s diagnosis can help researchers understand how and why PD comes on and what factors lead toward disease or protect from it . This can lead to new treatments and ways to prevent disease .
Genetic research has , over the past few decades , enabled a much deeper knowledge of Parkinson ’ s . And it ’ s one of our best paths to continue moving forward . Genetic links give researchers a starting point to trace cellular pathways that lead to Parkinson ’ s . These pathways may offer targets for new and better treatments as well as a cure . Clinical trials now are testing several genetic therapies with the potential to slow or stop Parkinson ’ s progression . If proven effective , these treatments could benefit everyone with PD , regardless of whether they have a gene change .
Trials such as these are made possible by information from the Parkinson ’ s Progression Markers Initiative ( PPMI ) study . PPMI is following people with PD genetic changes to learn more about the disease and to find better treatments and a cure .
Read more on page 54 or visit michaeljfox . org / ppmi-study .
34 The Michael J . Fox Foundation for Parkinson ’ s Research