Researchers Test Novel Personal Genetic Test For Parkinson’s Disease

Ana de Barros, PhD avatar

by Ana de Barros, PhD |

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In a recent pilot study published in the journal Digital Health a team of researchers are testing new technologies for Parkinson’s disease (PD) which may influence clinical research in personal genetic testing to better diagnose and potentially treat PD.

“These findings demonstrate that remote recruitment and conduct of research visits is feasible and well-received by participants,” said in a recent news release Ray Dorsey, M.D., M.B.A., a neurologist at the University of Rochester and lead author of the study. “Direct-to-consumer genetic testing, when paired with telemedicine, has the potential to involve more people in clinical research and accelerate the process of identifying the genetic causes and variations in chronic diseases such as Parkinson’s”

Parkinson’s disease is complex multi-system condition that has genetic influences and a wide range of patient experiences concerning symptoms’ severity and individual patients’ responsiveness to current available treatments.

Evidence has clarified several different phenotypes of the condition, but its different variations remain a challenge for diagnosis and treatment. According to the researchers the precise identification of a PD genetic signature (including its different phenotypes), would be crucial to improve the understanding of how the different forms of the condition are expressed in terms of symptoms, and also which treatments could be more effective.

The high costs associated with genetic testing and the difficulty associated with the recruitment of a large number of patients to create scientifically meaningful conclusions, makes this task a complicated one. However, two novel technologies could potentially make it conceivable: telemedicine and direct-to-consumer genetic testing.

The University of Rochester and Johns Hopkins University are now collaborating with 23andMe, a California-based biotechnology personal genomics company, to conduct a pilot study to assess if subjects with known genetic risk factors for PD could be diagnosed via telemedicine. The team is also examining the viability of conducting research remotely.

Collaborating with 23andMe and the Michael J. Fox Foundation for Parkinson’s Research, the team was able to recruit a total of 50 individuals across 23 states, who underwent an assessment conducted remotely involving motor and cognitive assessments via a secure video conferencing developed by the company Vidyo.

“Giving clinicians the ability to recruit and assess patients remotely for research and clinical trials is a game changer,” said Emily Drabant Conley, Ph.D., co-author of the study and the director of business development with 23andMe. “Leveraging genetically-defined groups of patients through direct-to-consumer genetic testing combined with self-reported data and remote assessment opens up exciting frontiers in research and may allow us to do things at a scale and speed that was previously not possible.”