Genetic testing for Parkinson's disease

While current research shows that in most cases Parkinson’s is not passed down through families or inherited, there is a form of genetic testing for Parkinson’s disease.

This is because in about 5% of cases, Parkinson’s can be linked to changes in specific genes, such as LRRK2, PARKIN and GBA1. These gene changes would usually also involve an external trigger, such as environmental chemicals.

LRRK2

LRRK2 is a gene change linked to Parkinson’s in some families. Around 30% of people with Parkinson’s have changes in the LRRK2 pathway.

It is important to know that not everyone with changes in LRRK2 develops Parkinson’s, but LRRK2 status helps determine if people can take part in trials on LRRK2‑targeted drugs.

GBA1

Changes in the GBA1 can increase the risk of developing Parkinson’s. It is important to know that not everyone with changes in the GBA1 gene develops Parkinson’s, but the GBA1 status is used to match people to targeted treatments, including gene therapy.

Reasons to get genetic testing for Parkinson’s disease

You may consider genetic testing for Parkinson’s for the following reasons:

  • Better understanding your condition: if you have already received a Parkinson’s diagnosis, getting tested may help you understand the causes and possible developments of your condition.
  • Learning how Parkinson’s may affect your family: knowing your gene status can have implications for other family members, but also cause unnecessary worry in those who never go on to develop the condition. It is important to involve close relatives if you feel comfortable, especially if results could have implications for their own health or options to access research.
  • Accessing certain research studies: taking a genetic test could help you access clinical trials – as several research studies test therapies designed specifically for people with Parkinson’s with certain genetic variants. These trials often require genetic testing to confirm eligibility before someone can take part.

Genetic testing for Parkinson’s-related genes is quite widely available, and can be carried out simply using a sample of your saliva or blood. It may be ordered by a neurologist or genetic counsellor, or offered through research programmes or registries.

The pathway to be tested will likely be different depending on the country you live in. In any case, if you want to find out more about genetic testing your doctor should be able to put you in contact with a reputable specialised genetics health professional.

Disclaimer:

The content of this page has been developed in collaboration with Sano Genetics. For more information on opportunities to take part in clinical trials for Parkinson’s genetic variants, click here.