23andMe, Cleveland Clinic to discover how genes and environment influence PD

In an effort to study the interactions between genomics and Parkinson's disease, Cleveland Clinic has joined the ongoing efforts of 23andMe, a leading personal genetics company, to recruit Parkinson's patients to participate in research by contributing their DNA to a research database and completing online surveys about their health.

Currently, little is known about how genes relate to Parkinson's disease, the effectiveness of treatments, or the natural course of the disease. The goal of this collaborative research effort - which also has support from the Michael J. Fox Foundation, the National Parkinson Foundation and the Parkinson's Institute - is to discover how genes and the environment influence Parkinson's disease.

"We are aware of the limitations of today's treatments, so we are always thinking about what we can do to advance the care of this incurable disease," said Andre Machado, M.D., Ph.D., Director of Cleveland Clinic's Center for Neurological Restoration. "This collaboration will help us to learn more about the genomics of Parkinson's disease and how it may impact individualized care in the future."

The project is part of Cleveland Clinic's personalized healthcare initiative, which aims to drive discoveries that allow medical professionals to better predict risk for disease and response to therapies, with the ultimate goal to improve patient care.

"We are offering this opportunity to our patients because as part of our 'Patients First' mission, we feel it is an important collaboration that could lead to improvements in our ability to predict and treat Parkinson's disease," said Kathryn Teng, M.D., Director of the Center for Personalized Healthcare at Cleveland Clinic. "Donating saliva, blood or tissue for research is a form of 'Patient Philanthropy.' It empowers our patients to participate in medical research and discoveries that can improve healthcare for themselves and others."

Patients who volunteer for the study will be asked to provide a saliva sample for DNA analysis and agree to participate in online surveys about their experience with Parkinson's. 23andMe hopes to enroll 10,000 participants total; Cleveland Clinic expects to enroll about 1,000 patients toward this goal.

"The quality of the research will depend heavily on sample size. Patient enrollment and participation is critical to the success of the project," said Ryan Walsh, M.D., Ph.D., Director of the Parkinson's Disease and Movement Disorders Program at the Cleveland Clinic Lou Ruvo Center for Brain Health in Las Vegas.

Patients who take part in the study will be enrolled in 23andMe's Parkinson's Disease Research Community, which will allow them to engage online with other Parkinson's patients and provides full access to 23andMe's Personal Genome Service.

23andMe first assembled its Parkinson's disease research initiative in June 2009. Within an 18-month period, 23andMe assembled and analyzed genetic data from more than 3,400 Parkinson's patients and successfully replicated the top 20 previously known genetic associations with Parkinson's disease in addition to determining new genetic associations for Parkinson's. Those findings were published in PLOS Genetics in June 2011. That study identified two novel loci, rs6812193 near SCARB2 and rs11868035 near SREBF1/RA11 and replicated those loci in an independent data cohort from the National Institute of Neurological Disease and Stroke (NINDS) database.

"We are very excited to be partnering with Cleveland Clinic and Dr. Machado. Integrating their clinical care with our online research model creates the opportunity for a new paradigm of medical research, that will ultimately benefit individuals with Parkinson's disease," said Anne Wojcicki, CEO of 23andMe. "Participants enrolled through the Cleveland Clinic will join the more than 6,500 individuals with Parkinson's disease already in our research community - the largest cohort of Parkinson's patients in the world."

Participation is free and voluntary. Those who take part in the study will be identified by a unique code, not by their names, in order to protect their privacy. Participants can choose to receive a report summarizing the genes identified in their DNA, though these findings will not be placed in their medical record.

"Patients volunteering for the study are unlikely to benefit directly, but they can have a sizable role in improving care for future patients. That's what this partnership is all about for us," said Hubert Fernandez, M.D., Section Head, Movement Disorders at Cleveland Clinic's Center for Neurological Restoration.