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Scripps Launches Study Combining DNA Testing and Wireless Sensors to Improve Parkinson's Diagnosis

April 7, 2016
by Heather Landi
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The Scripps Translational Science Institute (STSI) has launched a new study that aims to improve screening accuracy when diagnosing Parkinson’s disease by combining genetic sequencing and wireless sensors.

Diagnosing Parkinson’s, especially in its early stages, can be very challenging for physicians. According to a press release from STSI, researchers hope to validate a testing method that can accurately differentiate between Parkinson’s and essential tremor, the most common movement disorder and a disorder often mistaken for Parkinson’s.

“Because there is no single reliable test for Parkinson’s, a diagnosis is often based on subjective observations by a physician,” Ali Torkamani, Ph.D., director of genome informatics at STSI and the study’s lead investigator, said in a statement. “Misdiagnosis occurs in as many as 35 percent of cases, according to several clinical studies. By utilizing the power of precision medicine, we hope to create a more reliable method for screening patients exhibiting possible Parkinson’s symptoms.”

STSI has teamed up with The Michael J. Fox Foundation for Parkinson’s Research (MJFF) and Intel’s Health and Life Sciences organization to work on the study named GADGET-PD, which is short for Genetic and Digital Diagnosis of Essential Tremor and Parkinson’s Disease.

For the study, MJFF provides the use of a smartphone-based app, Fox Insight (developed with Intel), to collect tremor data. Intel developed a cloud-based platform that can store and process the sensor data and yields real-time insights that aid STSI in their Parkinson’s research. Intel also has helped fund the research, according to the press release.

STSI is a National Institutes of Health (NIH)-sponsored consortium led by La Jolla, Calif.-based Scripps Health in collaboration with The Scripps Research Institute. Through this research partnership, Scripps is aiming to improve the effort to translate wireless and genetic medical technologies into high-quality, cost-effective treatments and diagnostics for patients.

Each year, 60,000 Americans are diagnosed with Parkinson’s, and thousands more cases go undetected, according to the Parkinson’s Disease Foundation. As many as 1 million Americans live with the disease.

STSI researchers are recruiting 96 people to participate in the GADGET-PD clinical trial through the Parkinson’s Disease and Movement Disorder Center at Scripps Clinic in La Jolla. Half of the participants already will have been diagnosed with Parkinson’s, and the other half will have received an essential tremor diagnosis.

As part of the study, patients will contribute blood samples for DNA sequencing, and researchers will search subjects’ genetic data for gene variants known to be associated with Parkinson’s risk.

Health IT also plays a key role in the study as each participant will be equipped with a smartwatch, which tracks motion through an imbedded accelerometer, and an Android smartphone, which uses the Fox Insight app to transmit study data to a cloud-based platform.

The study will require participants to wear the smartwatches 24 hours a day for two weeks, and three times a day, participants will induce a resting tremor by playing a logic game for two minutes on the smartphone app.

By combining genetic risk data with subtle tremor characteristics, researchers aim to create a detailed patient profile that accurately differentiates patients with Parkinson’s from those with essential tremor at the early stages of disease, Torkamani said.

Mark Frasier, Ph.D., MJFF senior vice president of research programs, said, “The ability to diagnose Parkinson’s more definitively would help patients manage their care and researchers confirm that the volunteers in their trial truly have the disease they’re targeting, raising the likelihood of successful treatments passing clinical testing. This project’s approach to combine genetic analysis and objective measures shows promise in advancing toward that goal.”

Ketan Paranjape, general manager of Intel’s Life Sciences team, said, more broadly, the project enables researchers to gain access to valuable health data and turn it into meaningful insights, which will lead to advances in precision medicine.

“Through the implementation of the analytics solution developed by The Michael J. Fox Foundation and Intel, consisting of a consumer wearable and an analytics platform optimized for Intel architecture that can analyze both genomics and phenotypical data, institutions like Scripps Translational Science Institute are able to use the power of data to accelerate their research on Parkinson’s disease,” Paranjape said.

More information about the GADGET-PD trial is available at (study Identifier: NCT02668835).




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