Every person with Parkinson’s should be tested to see if their condition has a genetic element in order to aid the development of new treatments, says German life science data collection company Centogene.
The company made the call in August following findings from its ROPAD (Rostock International Parkinson’s Disease) Study to test the prevalence of a genetic link among people with Parkinson’s in several countries around the world.
ROPAD is one of several initiatives that are currently studying genes and Parkinson’s. To date, no definitive link has been established between one member of a family being diagnosed with Parkinson’s (even when they test positive for a gene associated with the condition) and then someone else in the family also developing it.
After testing the largest international Parkinson’s patient cohort ever – 12,500 people with Parkinson’s from the United States, UK, Argentina, Brazil, Germany, Italy, Belgium, Portugal, Spain and Israel starting in 2019 – the study confirmed existing findings that 15 percent of people with the condition have a gene linked to Parkinson’s.
The study recruited people with Parkinson’s aged 30 to 80 who had been diagnosed within the previous five years. Of those who had early onset Parkinson’s (before the age of 50), 27 percent of them had a gene linked to Parkinson’s.
Approximately 90 percent of the people who did have a gene linked to Parkinson’s had variants in the LRRK2 or GBA1 genes.
Centogene believes that characterising the genetics of Parkinson’s will lead to a better understanding of its progression, diagnosis and future treatment.
One of the reasons ROPAD was set up was to identify those with a gene linked to Parkinson’s and to give those people the opportunity to take part in research trials of new treatments. This group of people could be one of the keys that helps to reveal what causes Parkinson’s.
Peter Bauer, Chief Medical and Genomic Officer at Centogene, says: “We set up ROPAD to do the screening, to issue reports for the patients, and enable them then to decide whether they would like to join in with clinical research development with the knowledge that they might, sooner or later, benefit from these new drugs.”
Those who were found to have a genetic link were given counselling due to the possibility that their children or other family members may also develop Parkinson’s. Bauer says that this knowledge meant that this group were often further motivated to take part in drug trials as they knew that their relatives could potentially benefit from it as well as themselves.
“They immediately sensed that they might be able to play a part in helping to develop a treatment that delays the condition and slows down neurodegeneration,” says Bauer.
Centogene believes that if everyone with Parkinson’s has their genes tested, it will create a large body of people who would potentially be able to take part in essential drug trials that could lead to new treatments.
This is why they believe that genetic testing of people with Parkinson’s should happen on a routine basis. Bauer says: “Without doing genetics in routine practice for these progressive neurodegenerative disorders, you will always have a pool that you fill up with [candidates suitable for drug trials], and then it’s depleted. So, the conclusion of our programme is that it needs to be done continuously for all patients.”
Bauer continues: “We have confirmed that we can enable Parkinson’s patients with genetic information to participate and contribute to clinical trial development. And I think that’s important, because many of these initiatives failed because the companies ran out of money, because it took them too long to finish their research activities.”
“We have to fight Parkinson’s with better tools. And if we don’t start doing genetic testing, we will not find these tools,” says Bauer.
The ROPAD data was published in Brain in a paper titled Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study.
