December 20, 2016 | News, products, and partnerships from around the diagnostics community including news from Protagen, Good Start Genetics, HudsonAlpha, and more.
HudsonAlpha recently held a groundbreaking ceremony for 800 Hudson Way, the latest addition to the 152-acre Huntsville, AL campus. The 100,000-square-foot facility will foster job growth for several new and expanding life sciences companies, and also will house components of HudsonAlpha’s research, Educational Outreach, genomic medicine and informatics programs. The building will be the home of the Paul Propst Center for Precision Medicine. Huntsville philanthropist and businessman William “Bill” Self Propst, Sr. made a generous donation to HudsonAlpha’s work in the area of precision medicine. The center is named in honor and memory of his father Paul, who was a minister in North Alabama. The two-story building will be similar to the 601 Genome Way location in both its design and the mix of research laboratories and life sciences companies. Longtime HudsonAlpha associate company Conversant Bio will expand and move into the new building. HudsonAlpha press release
The Rare Genomics Institute (RG) has announced a new division – Rare Genomics Task Force (RGTF). It will be tasked with providing scientific information and support for patients with rare diseases. These efforts include but are not limited to conducting research reviews, writing reports for patients, identifying renowned experts who can help with projects, and connecting experts with rare disease patients. RGTF recently started a free and publicly accessible platform that is currently running through email communication. The RG also announces the BeHEARD (Helping Empower and Accelerate Research Discoveries) Initiative, an annual rare disease science challenge providing technology grants for rare disease research. The RG-hosted contest is aimed at accelerating rare disease research and offering new options for millions of patients suffering from ailments that lack effective treatments. Rare Genomics Institute press release
Protagen announced the launch of NavigAID SSc, a disease stratification assay designed to support pharmaceutical and biotechnology companies with their Systemic Sclerosis (SSc) drug development efforts. Protagen NavigAID SSc has been specifically developed to tackle the heterogeneity challenge associated with SSc and it facilitates the development of new therapies by employing existing and new proprietary serum biomarkers. Taking a unique disease stratification approach, NavigAID SSc enables differential diagnosis, risk stratification and prediction of organ involvement. Additionally, NavigAID SSc has the potential to provide the basis for treatment-specific companion diagnostics (CDx). Protagen press release
The emergence of new therapies that treat the causes of cystic fibrosis are creating an imperative for more accurate variant analysis. A genetic diagnosis for more than 95% of patients is achievable with a new cystic fibrosis (CFTR) gene analysis kit developed by Elucigene in partnership with Congenica. The “all-in-one” kit allows sample processing, analysis with next generation sequencing (NGS) and variant interpretation streamlining the diagnostic process. The new product is the first in Elucigene’s range to embrace next generation sequencing. Elucigene has developed probes specifically designed to deeply sequence, with higher confidence, the areas of the CFTR gene where the targeted variants occur. This has increased the detection rate from between 85 to 95% to over 99% for some populations. Elucigene press release
Good Start Genetics announced that it has entered into a collaborative agreement with global healthcare leader Roche to sell Good Start’s carrier screening service for inherited genetic disorders. Under the agreement, Roche Diagnostics will offer Good Start Genetics GeneVu carrier screening test service in conjunction with its Harmony non-invasive prenatal test (NIPT) service to obstetricians and general practitioners caring for pregnant women in the United States. Good Start press release
Clinical Genomics announced the launch of Colvera, a blood-based test for colorectal cancer (CRC) recurrence monitoring. Colvera is the result of a decade of research, development and clinical validation in more than 4,000 patients. Colvera will be performed in Clinical Genomics' dedicated CLIA-registered laboratory in Bridgewater, NJ. Quest Diagnostics will provide specimen collection and logistics services for Colvera test orders. Terms of the agreement were not disclosed. Colvera is a qualitative test that indicates the presence or absence of two altered genes associated with CRC. Colvera measures methylation – a genetic change associated with cancer development – in circulating tumor DNA (ctDNA), the fragments of genetic material that leak from a tumor into the bloodstream. Unlike DNA mutations, which are frequent in cancer but may vary widely between patients and may undergo mutation shifts during the course of disease, methylation is a more stable feature in tumors that is readily measured. Colvera is not intended to stratify the risk of recurrence in colorectal cancer patients, but rather to identify the presence of disease at the time of testing. Clinical Genomcs press release
Personal Genome Diagnostics announced the launch of its CancerSELECT 125 test for pan-cancer tumor profiling. CancerSELECT 125 identifies clinically actionable and functionally important sequence mutations and structural alterations across multiple cancer types. The assay incorporates proprietary PGDx technologies and bioinformatics to identify tumor specific (somatic) mutations with exceptional accuracy. The genes in CancerSELECT 125 were selected to aid in treatment decision-making based on their biological and functional relevance and clinical actionability. They include both likely and known regions associated with drug sensitivity and acquired drug resistance. CancerSELECT 125 identifies tumor-specific sequence mutations, amplifications, structural rearrangements and other alterations in tissue across multiple cancer types. CancerSELECT 125 also reports microsatellite instability status (MSI) to assess potential response to checkpoint inhibitor therapies--tumors with high MSI have been shown to have a much greater clinical response to these immunotherapies. CancerSELECT 125 additionally includes matched sequencing of normal patient tissue to accurately filter out germline variants and increase confidence that the identified alterations are truly somatic. Personal Genome Diagnostics press release