The Parkinson’s Foundation has launched PD GENEration: Mapping the Future of Parkinson’s Disease, the first-ever national initiative to offer free genetic testing and counseling to patients with Parkinson’s disease (PD). The Parkinson’s Foundation is initially offering these services through a pilot program at Columbia University Irving Medical Center and several other sites throughout the foundation’s Centers of Excellence network. After the pilot period, the foundation aims in 2020 to expand the program to approximately 50 sites across the U.S., ultimately offering genetic testing and counseling for up to 15,000 PD patients. Currently, genetic testing for PD is rarely covered by insurance or offered along with genetic counseling, a situation that this initiative hopes to remedy.
PD GENEration will identify patients with genetic mutations in clinically relevant Parkinson’s-related genes like LRRK2 and GBA, and may help patients and their physicians determine whether they qualify for enrollment in certain clinical trials. Additionally, scientists will use genetic testing results obtained through this initiative for future research to develop improved treatments and personalized medicine for PD.
“The long-term goal of PD GENEration is to improve Parkinson’s care by accelerating and supporting research,” said John L. Lehr, president and CEO of the Parkinson’s Foundation. “We are thrilled to launch the pilot of this unique initiative which offers the PD community the opportunity to learn more about their specific diagnosis, and at the same time help scientists advance the understanding of PD.”
Wisconsin State Laboratory of Hygiene, Quantabio Join Forces on Newborn Screening
The Wisconsin State Laboratory of Hygiene has adopted Quantabio’s technology to improve newborn screening for spinal muscular atrophy (SMA) and severe combined immunodeficiency. The laboratory is now using Quantabio’s Extracta DBS technology and Perfecta Multiplex qPCR ToughMix kit to develop and validate a real-time polymerase chain reaction (PCR) assay that simultaneously screens for both disorders. The Extracta DBS reagent is designed to enable high throughput public health laboratories to extract DNA from dried blood spots with greater efficiency. Using this reagent, labs can perform a single-step crude extraction of genomic DNA in 30 minutes, without the need for a purification step. In addition to using this technology for test development, the Wisconsin State Laboratory of Hygiene is also using Extracta DBS for an optimized digital PCR assay for SMN2 copy number assessment. If a patient tests positive for SMA, additional information about SMN2 helps providers assess the severity of the condition.
Mirnax Licenses Arcis’ Nucleic Acid Sample Prep Technology
Mirnax Biosens has signed an exclusive licensing agreement for the use of Arcis Biotechnology’s nucleic acid sample preparation and preservation technology. Mirnax develops microRNA biomarkers for the early diagnosis of conditions such as cancer, arthritis, and kidney disease. However, microRNA is difficult to preserve because it degrades quickly after extraction, which impacts the accuracy of diagnoses. Using Arcis’ two-step, rapid nucleic acid extraction and preservation technology, Mirnax will be able to extract and stabilize microRNA biomarkers in less than 3 minutes, without the need for instrumentation or heating or cooling steps.
“Using the Arcis sample prep technology, we are able to successfully generate stable biomarkers for the diagnosis of pathologies with high incidence in the current population,” said Enrique Sainz Martinez, CEO of Mirnax Biosens. “This agreement supports our mission to develop products with high clinical value and to ultimately improve patient quality of life.”
Interpace Diagnostics, Predictive Oncology Team on Thyroid Cancer Diagnostics
Interpace Diagnostics has partnered with the Helomics division of Predictive Oncology to develop tests to diagnose and assess the risk of thyroid cancer. The two companies plan to incorporate Helomics’ patient-derived tumor profiling and artificial intelligence (AI) platform, D-CHIP, into Interpace’s existing thyroid tests in order to provide patients with therapeutic recommendations alongside their test results. Under the terms of the agreement, Helomics also plans to use Interpace’s clinical data to build a model that identifies patients with aggressive thyroid cancers who might benefit from Helomics’ targeted treatments.
“The better we understand thyroid cancer, the better equipped we are to both diagnose and predict treatment outcomes,” said Jack Stover, CEO of Interpace Diagnostics. “We believe that this collaboration with Helomics is a significant step to help us better diagnose thyroid cancer, resulting in existing product line extensions as well as potentially new products and partnerships based on the AI-driven models Helomics is building.”
Personalis to Provide Tumor Immunogenic Profiling to New Mexico Cancer Care Alliance
The University of New Mexico (UNM) Comprehensive Cancer Center and the New Mexico Alliance for Cancer Care have entered a collaboration to use Personalis’ cancer immunogenomics platform, ImmunoID NeXT, in a clinical trial for ovarian cancer. ImmunoID NeXT analyzes approximately 20,000 genes in both DNA and RNA, and the partnership will use the platform to evaluate the combination of olaparib and tremelimumab in women with recurrent BRCA-deficient ovarian cancers. This trial is based on research at UNM Comprehensive Cancer Center that indicates that immune priming with targeted cytotoxic therapy using a poly ADP ribose polymerase-inhibitor could sensitize ovarian tumors to immune therapy and improve patient survival.
“We are delighted to collaborate with Personalis on this study,” said Sarah Adams, MD, an associate professor of gynecologic oncology at UNM Comprehensive Cancer Center. “Comprehensive immuno-profiling will inform on biomarkers of response for this experimental treatment in women with BRCA1 or BRCA2 germline mutated ovarian cancers, for which there aren’t standard curative measures.”
Premier, Progknowse Partner to Develop Precision Medicine Analytics
Premier and Progknowse have teamed to create a clinical and genomic dataset for use within the PremierConnect performance improvement platform, with the ultimate goal of developing new predictive analytics capabilities that support personalized care delivery. Under the terms of the collaboration, Progknowse will use the Premier-Connect platform to access de-identified clinical outcomes data on approximately 45% of all U.S. patient discharges. Working with leading research universities and data scientists, the two companies will then use this information to create predictive algorithms that inform treatment decisions for patients with specific genetic markers.
“Today, only the most techno-logically advanced health systems are conducting precision medicine research, and even then, their view is often limited to their specific populations,” said Leigh Anderson, president of performance services at Premier. “This partnership combines the skills and resources necessary to access datasets and genomic information to create a much broader, national healthcare database for data scientists to analyze.”