A new comprehensive genetic panel redefines Parkinson’s disease diagnosis

Eye on Innovation

In a groundbreaking discovery for Parkinson’s disease (PD), Mayo Clinic Laboratories’ experts in neurology, laboratory medicine, pathology, and genetics joined forces to develop the new Inherited Parkinson’s Disease Gene Panel (Mayo ID: PARDP). With millions worldwide affected by the neurodegenerative disorder, this comprehensive test holds the potential to redefine diagnosis and treatment of the condition.

As the fastest-growing neurological disease, PD impacts 1% to 2% of the population over the age of 70. Because genetic mutations make up to 15% of PD cases, the disorder has long been a subject of study, with researchers primarily focused on a limited set of genes. However, recent advancements at Mayo Clinic Laboratories spearheaded by Rodolfo Savica, M.D., Ph.D., Division of Neurology, and Zhiyv (Neal) Niu, Ph.D., Division of Laboratory Genetics and Genomics, have revealed a more nuanced picture.

“We knew there was more to the story. So, I worked closely with consultants like Dr. Niu to expand our understanding,” said Dr. Savica.

Their partnership and alliance with other departments led to extensive research on Parkinson’s-related genes, including literature reviews and mutation databases.

Their aim was to identify new genes associated with the disease and develop a more robust testing panel using next-generation sequencing. The result was a significant expansion — from 26 genes to 94 genes — with the flexibility to incorporate new discoveries as they arise.

“This expanded panel not only enhances our ability to diagnose Parkinson's but also offers valuable insights into its underlying causes,” explains Dr. Savica. “By identifying specific genetic mutations, we can tailor treatments to individual patients, accounting for variations in symptoms and treatment responses.”

Zhiyv (Neal) Niu, Ph.D., Division of Laboratory Genetics and Genomics, Mayo Clinic

What sets the new panel apart is its ability to detect genetic subtleties that presenting Parkinsonism phenotypes possess during disease presentation and progression. Dr. Niu, who oversaw testing procedures for the panel, included 49 novel additions not offered by other commercial panels. He highlighted how this finding plays a vital part in uncovering familial cases where disparate phenotypes manifest within the same genetic lineage.

“We built a panel that specifically answers the questions our neurologists will be asking when evaluating patients with Parkinson's disease,” explains Dr. Niu. “We have made many diagnoses of families with mutations presenting different phenotypes among different family members in the first week/month of clinical testing. By identifying these disease-causing mutations in patients as young as 35 and as old as 80, the panel has proven instrumental in facilitating early diagnosis and targeted interventions.”

As the implications of this breakthrough extend beyond diagnosis and treatment, the PARDP testing panel opens doors to personalized medicine, where care can be tailored to each patient's genetic profile. With a deeper understanding of PD genetics, researchers and consultants can explore targeted therapies to address underlying biological causes.

However, translating these advancements into clinical practice poses logistical and educational challenges. Clinicians must familiarize themselves with the expanded testing panel and its implications for patient care. Moreover, ensuring equitable access to these tests is essential to maximize their impact across diverse patient populations.

Rodolfo Savica, M.D., Ph.D., Division of Neurology, Mayo Clinic

Despite the challenges, Dr. Savica remains optimistic about the future of Parkinson's disease research and treatment.

"Parkinson's disease presents complex challenges, but with continued collaboration and innovation, we can unlock new possibilities for patients worldwide," says Dr. Savica.

“We have plans to integrate genetic testing as a component of a comprehensive multidimensional test for Parkinson's disease. In addition, we are discussing the potential for future clinical trials,” adds Dr. Savica.

At the core of the panel's effectiveness lies its collaborative structure, representing Mayo Clinic's commitment to working cross-functionally. Dr. Niu emphasizes the importance of unified efforts across specialties, citing the words of Dr. William J. Mayo: a “union of forces is necessary” for the best interest of the patient. “This work showcased how neurology, laboratory medicine, pathology, and genetics, all bring specialty expertise together to deepen our knowledge of Parkinson’s disease," says Dr. Niu.

As the field of Parkinson’s disease genetics continues to evolve, the PARDP panel serves as the vanguard of innovation to redefine standards of care and catalyze therapeutic advancements. With its unparalleled depth of genetic insights, this pioneering panel holds the promise of earlier detection, personalized therapies, and improved outcomes for patients battling the condition.

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Nicole Holman

Nicole Holman joined Mayo Clinic Laboratories in 2023. She currently serves as communications writer on the marketing team. Nicole enjoys feature writing and storytelling focused on employees, patients, and company culture.