Participants in the 23andMe Parkinson’s disease research initiative have contributed a vast amount of data, that has enabled our researchers and collaborators to improve our understanding of the genetics of Parkinson’s. But we want to do even more to maximize the use of this data.
Through ongoing collaborations with The Michael J. Fox Foundation for Parkinson’s Research (MJFF), 23andMe is working with the Parkinson’s disease community, piloting novel ways to collect and analyze data and advancing genetic research in Parkinson’s disease.
Part of that work entails supporting a postdoctoral researcher at 23andMe, Karl Heilbron, who is analyzing this extensive data set. We have previously reported on some of Karl’s work. This summer he presented his findings related to novel traits associated with Parkinson’s disease at first ever Gordon Research Seminar dedicated to the disease. The poster was well received and we were happy when Karl was selected to give an oral presentation on his data.
23andMe also worked with MJFF to invite Parkinson’s researchers from around the world, to submit proposals for collaborations with 23andMe. We contacted more than 12,000 researchers and received a significant number of high quality and innovative proposals. Through an exhaustive review process, we have identified the top four proposals regarding technical feasibility and potential impact. We will feature details of these in upcoming blog posts.
New data projects
Off-label drug use survey
In medicine, doctors sometimes prescribe treatment for a condition with a drug that has already been FDA-approved to treat a different disease or symptom. This practice is called ‘off-label’ drug use, and there is little information on how common it is in the treatment of Parkinson’s disease. To find out, researchers here at 23andMe collaborated with MJFF and The Cure for Parkinson’s Trust to create a new off-label drug use survey to address this question.
Although off-label drug use is practiced in medicine, little is known about the safety and effectiveness of drugs in unapproved indications. The survey is not an endorsement of off-label drug use, but instead, an effort to learn more how common it is for the treatment of Parkinson’s. 23andMe encourages individuals with Parkinson’s to talk with their physicians regarding treatment decisions.
As part of this effort, 23andMe sent an email to participants in the Parkinson’s Disease Research Initiative asking them to take the off-label drug surveys. Respondents were presented with a list of potential off-label medications; exenatide, isradipine, metformin, nicotine patch, nilotinib, and statins, many of which are currently or were recently in clinical trials for Parkinson’s, as well as an “other” free text option. Interpretation of the results is complicated by the fact that many of these drugs are approved for conditions that are also common in those with Parkinson’s, such as type-2 diabetes, high cholesterol, and high blood pressure. We found that 21 of the 1,325 participants (one to two percent), reported that they were prescribed isradipine off-label. None of the other drugs were prescribed off-label to more than a handful of participants if any at all. It’s important to note that we have no information regarding any benefits or side-effects relating to the off-label drugs, or even whether the individuals ever took or are still taking the drugs.
Medical records pilot
Online survey questions continue to be the core of our data collection methods. However, we are always interested in new and different sources of data to add to our research.
With the recent proliferation of electronic medical record systems, we wanted to determine if these records could be a valuable new source of data for Parkinson’s research. In particular, we’re interested in discovering factors that influence the progression of the disease. A traditional approach to studying this would be to enroll people with Parkinson’s disease in a longitudinal study where they would be asked to complete baseline and periodic (e.g., every three months) follow-up surveys to assess changes in the progression of their Parkinson’s symptoms.
Many individuals with Parkinson’s disease progress relatively slowly, especially in the early stages. This means that it can be a significant challenge to keep participants engaged in such studies for long enough to see substantial changes in their symptoms. We want to explore whether disease assessments in medical records would allow us to access the same information, but looking backward in time.
To address this, we recruited approximately 200 participants with Parkinson’s disease who were willing to have us retrieve and analyze their medical records. These participants were assigned to one of two companies that specialize in the retrieving and anonymizing electronic medical records. The companies retrieved and anonymized the records, then mined them for information that we deemed points of interest. So what did we find?
- Almost all of the participants saw a specialist for management of their Parkinson’s.
- The format and content of the medical records were highly variable, as was the number of visits per year.
- The most consistently reported data was self-reported data, which can often be more easily recorded by online surveys.
- Rating scales for Parkinson’s — the Unified Parkinson Disease Rating Scale (UPDRS) — were rarely and inconsistently included in the records, and, even when present the scores were variably reported. More frequently records had Hoehn and Yahr scores for Parkinson’s, but still insufficient to provide any data on progression.
In conclusion, the two vendors were able to retrieve records for most of the participants, but the data contained therein were too variable and inconsistent to be of any value for research, especially regarding progression.
Many thanks to all of the 23andMe Parkinson’s disease research initiative participants who contributed to the work!