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STSI Launches Study to Improve Screening Accuracy for Parkinson's Disease

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NEW YORK (GenomeWeb) – The Scripps Translational Science Institute has partnered with the Michael J. Fox Foundation and Intel to launch a study that aims to improve screening accuracy for Parkinson's disease using a combination of genotyping and wireless sensors.

The study, called the Genetic and Digital Diagnosis of Essential Tremor and Parkinson's Disease — or GADGET-PD — will be run through the Parkinson's Disease and Movement Disorder Center at Scripps Clinic in La Jolla.

To date, as many as one million Americans live with Parkinson's disease. Each year, 60,000 Americans are diagnosed with Parkinson's, but researchers believe that thousands of cases go undetected, according to the Parkinson's Disease Foundation.

It's not easy to accurately differentiate between Parkinson's disease and essential tremor, the most common movement disorder. While there is not a lot of information in the literature about diagnosis, the data that researchers have collected suggests that misdiagnosis of Parkinson's disease and essential tremor happens in up to 30 percent of cases, Ali Torkamani, director of genome informatics at STSI and a researcher working on the study, told GenomeWeb. Misdiagnosis happens most often in primary care rather than specialist offices, he added.

There are gold-standard tests available to diagnosis Parkinson's, such as a dopamine transporter brain scan, however, they are pretty expensive and not easily accessible, Torkamani said.

While the GADGET-PD study's primary goal is to combine existing tracking technology with a genotyping risk assessment to find a clear way to differentiate between Parkinson's and essential tremor, the researchers also hope that it will lead to a tool that can be used for early diagnosis of Parkinson's, he said. 

The study just launched earlier this year, and STSI researchers are in the process of recruiting 96 people to participate in the GADGET-PD clinical trial. Ideally, they want half of the participants to have a Parkinson's diagnosis and the other half to have an essential tremor diagnosis. After they have those two subsets, they plan to further divide each group into a testing group and a training group.

Meanwhile, MJFF alongside Intel's Health and Life Sciences organization has developed a smartphone-based app, Fox Insight, to track participants and collect tremor data. In addition to developing the app, Intel's Health and Life Sciences organization has contributed funding for the research and developed a cloud-based platform that can store and process the sensor data to yield real-time insights.

The participants would wear a wristwatch-like accelerometer device, not unlike an Apple Watch or a Fitbit, which would track their movements, including tremors, at high temporal resolution and transmit movement data through the Fox Insight app. The app would also require that participants complete cognitive distraction tasks three times a day to collect higher-quality data alongside the continuous movement data provided by the accelerometer.

Additionally, the STSI research team would also collect blood samples from the participants, extract DNA from the samples, and then run a genotyping risk assessment using Affymetrix genotyping technology. They will check for 46 known single nucleotide polymorphisms, such as LRRK2, that have been associated with Parkinson's based on previous genetic studies and then develop a cumulative risk score based upon how many SNPs they detect.

The idea, Torkamani said, is to create a risk-assessment profile for each participant that would be similar to what the direct-to-consumer genomics company 23andMe provided to its first clients before the US Food and Drug Administration told the firm in 2013 to stop marketing health-related genetic test results directly to customers until it received the agency's regulatory clearance or approval. Torkamani and his colleagues, though, aim to develop a device or test that would be offered in a clinical setting. 

The researchers hope that by combining these two data sets, they will be able to clearly differentiate between a person diagnosed with Parkinson's and someone diagnosed with essential tremor.

"I sort of think of this [study] as proof of principle of what can be done when combining genetic information and personal quantification," Torkamani said.

They hope to complete enrollment for the GADGET-PD study by the end of the year, Torkamani added.

The real test, though, is if the researchers can successfully provide proof of concept for this tool as both a way to reduce misdiagnosis and as an early diagnosis tool for Parkinson's. "If we can do it here [with Parkinson's], then we can do it for a large number of other areas," he said.

If the researchers are able to create a tool that they think would be useful for early diagnosis in Parkinson's, they plan to set up a blinded clinical trial to get a better sense of efficacy.

"If the test turns out to be accurate we would continue to pursue it as a clinical test," Torkamani said in an email. "I am not sure what route we would take (e.g. LDT, partner, medical device, etc.), but we are definitely open to and encourage pushing these things through to commercialization so that they are generally available." 

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