Objective/Rationale:
Critical research roadblocks hinder our ability to identify genetic and environmental causes of Parkinson’s disease and to develop novel, transformative therapies for Parkinson’s disease patients. Traditional clinical trials require multiple patient visits to a limited number of skilled clinical sites. These visits can be time and distance prohibitive for patients, and require expensive labor-intensive efforts at the participating sites. Similarly, definitive studies to identify the cause and early indicators of Parkinson’s disease require very large numbers of study participants and lengthy, costly interviews. This proposal develops an entirely new and innovative approach to clinical research information gathering, leveraging the internet to dramatically expand the involvement of Parkinson’s patients in clinical research and increase the frequency and quality of patient data collection. If validated, this innovative approach could transform our ability to conduct clinical studies of Parkinson’s disease.
Project Description:
This is a joint project between the Parkinson’s Institute (PI) and 23andMe, Inc., a privately-held personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company's Personal Genome Service enables individuals to gain deeper insights into their ancestry and inherited traits. Through the establishment of a social networking platform, the company will facilitate the development of communities—and research projects—around common traits. Working together, our teams will design and validate web-based clinical assessment tools that can be administered to online communities. Two major types of information will be collected: lifetime environmental risk factor histories and clinical disease features, including both “early” mild symptoms, and disease progression and course. Researchers at PI have extensive experience collecting this type of information using traditional methods. A major goal is to adapt traditional paper-based interview forms for use as web-based forms, which will then be tested for their ease of use and their accuracy or validity. We will also seek to develop novel web-based methods for improving diagnostic accuracy. All patients will first be enrolled in the 23andMe Personal Genome Service™, their portal to understanding and exploring their genetic profile. At that time, study participants will be asked to return a saliva sample for a comprehensive genome scan generating more than 580,000 data points per patient. Patients’ risk factor and clinical data collected via the newly developed and validated web-based tools will then be merged with their genetic data to conduct research on Parkinson’s disease. Over time new surveys will be developed and administered to the growing cohort of patients, generating new risk factor and clinical data for comparison with the existing genetic data. The web-based nature of the interface provides the ability to scale globally.
Relevance to Diagnosis/Treatment of Parkinson’s Disease:
The translation of advances in molecular and cellular biology to PD patients is significantly hampered by inefficient, expensive, and time-consuming clinical research paradigms. Because the causes of Parkinson’s disease are likely to include many different genetic and environmental risk factors, only very large studies will be able to identify these causes. A web-based approach has the potential to change fundamentally the existing research paradigm by increasing patient involvement, reducing costs and improving speed and efficiency. Another important outcome of this research, if successful, is that ultimately it will give patients everywhere who are interested in helping with and participating in medical research the opportunity to do so from the convenience of their own homes.
Anticipated Outcome:
We will develop a core set of easy-to-use, accurate Web-based forms to collect clinical and risk-factor information for Parkinson’s disease. We will demonstrate the effectiveness of web-based clinical research methods for studying Parkinson’s disease, and we will build on this work to develop superior methods for future clinical and epidemiologic research into curing or preventing Parkinson’s disease.
Progress Report
This proposal develops a new and innovative approach to clinical research information gathering, leveraging the internet to expand the involvement of Parkinson’s patients in clinical research and increase the frequency and quality of patient data collection. This is a joint project between the Parkinson’s Institute (PI) and 23andMe, Inc. We designed and are in the process of validating web-based clinical assessment tools that can be administered to online communities. Two major types of information are being collected: lifetime environmental risk factor histories and clinical disease features, including early mild symptoms and disease progression and course. We first established a cohort of 71 research participants. We then collected gold standard clinical and risk factor information. Currently, participants are completing the web-based lifetime environmental risk factor history and clinical disease feature questionnaires.