Strategic Partnership to Develop DNA-Guided Diagnostic for Cardiovascular Disease, Obesity, and Diabetes
AutoGenomics and Genomas announced that they have signed an agreement to jointly develop genetic tests and DNA-guided diagnostic systems for optimal selection of statins and for improved delivery of statin therapy for the treatment of cardiovascular disease, obesity, and diabetes. This collaboration will provide clinicians and physicians with newly developed genetic tests and a decision support system that will allow them to manage statins, and prescribe and dose these drugs on a DNA-guided, personalized basis to more effectively guide the therapy for each patient.

Statin drugs are the most prescribed medications in the world and are used to reduce the level of low-density lipoprotein cholesterol (LDL) in the blood. According to the Center for Disease Control and Prevention, there are currently more than 71 million American adults (older than 20 years of age) with high LDL and it is estimated that over 43 million Americans are currently prescribed the statin class of cholesterol lowering drugs. However, statin LDL-lowering drugs can cause muscle aches, cramps, and muscle weakness, and if not controlled, can lead to muscular injury. The newly developed DNA-guided statin diagnostic tests are designed to identify individuals who are genetically susceptible to muscle pain (myalgia) while on these statins and who may develop muscular injury (myopathy) while on high dose statin therapy.

“Growing evidence indicates that genetics determines who develops muscle complaints with statins,” said Paul D. Thompson, MD, chief of cardiology at the Henry Low Heart Center of Hartford Hospital, where Genomas is located. “The partnership will allow us to pursue the final implementation studies of the multi-gene biomarker system to personalize cardiovascular therapy.”

Ventana and Merck Collaborate on Cancer Co-Diagnostic
Ventana Medical Systems, a member of the Roche Group, has entered a collaboration with Merck KGaA’s biopharmaceutical division to develop and commercialize a companion diagnostic for an undisclosed target using Ventana’s proprietary diagnostic assays. The partnership aims to develop a patient-stratifying diagnostic test that can be used in multiple cancer indications. As part of the agreement, Ventana will develop and validate the co-­diagnostic and ensure its readiness, availability, and adherence to Food and Drug Administration and other health authority standards for future clinical trials. “Tailoring therapies based on a patient’s specific genes, proteins, or tissue environment is a key expansion area for oncology,” said Doug Ward, vice president of Companion Diagnostics, Ventana Medical Systems. “We are very pleased to partner with Merck to co-develop a companion diagnostic that will play a vital role in improving the quality of care for cancer patients.”

Transplant Genomics to Develop Tests to Improve Organ Transplant Outcomes
Transplant Genomics Inc. (TGI) has obtained an exclusive license to patent rights co-owned by The Scripps Research Institute and Northwestern University that provide the foundation for clinical tests to improve management of organ transplant recipients, with the potential to extend lives and reduce costs of associated healthcare. This licensing agreement provides TGI with access to a broad portfolio of intellectual property related to kidney and liver transplant diagnostics, including immune status monitoring and optimization. Using this information, TGI intends to develop and commercialize tests that use genomic markers of transplant graft status as part of a surveillance program to detect and respond to early signs of graft injury. TGI’s first test will be used to routinely monitor kidney transplant recipients, indicating when treatment or biopsy is required based on analysis of a patient’s blood. “The danger of subclinical acute organ rejection is well recognized as a significant cause of late graft loss but nearly impossible to diagnose since doing serial biopsies is not feasible,” said Dan Salomon, MD, founding director and chief scientific advisor of TGI and professor at The Scripps Research Institute. “A minimally invasive blood test could be used to predict clinical rejection, to diagnose subclinical rejection, and to monitor treatment to assure clinicians that the therapy was fully effective.”

Roche, Stratos to Advance Single Molecule Nanopore DNA Sequencing
Roche has joined forces with Stratos Genomics to develop further applications of Stratos’ method of single molecule sequencing of DNA fragments using protein nanopores. Stratos has pioneered a sequencing by expansion (SBX) method, which is a single molecule detection process that converts DNA into a larger surrogate molecule, called an Xpandomer. These Xpandomer molecules, 10–100 times longer than the original DNA, pass through a nanopore which has a detector to read out the signal. A polymerase can be used to synthesize the Xpandomers from a DNA template by incorporating customized expandable nucleotides and increasing the surrogate molecule through a rapid chemical reaction. SBX’s signal to noise advantage has the potential to enable accurate, high throughput sequencing on reduced cost nanopore systems. During this collaboration, a research team at Roche will work with Stratos scientists to develop efficient, low-cost sample preparation methods for DNA Xpandomers and also improve sequencing performance by leveraging Roche’s expertise in protein design, polymerase mutagenesis, modified nucleotide chemistries, and rare reagent manufacturing.

Illumina Enters Partnership to Uncover Causes of Rare Genetic Diseases
University of Cambridge, Genomics England, and Illumina have started a 3-year project that will sequence 10,000 whole genomes of children and adults with rare genetic diseases. The project represents a pilot for Genomics England, which will provide 2,000 samples, and marks the beginning of the U.K.’s national endeavor to sequence 100,000 genomes in the U.K. National Health Service that was announced recently by Prime Minister David Cameron. Illumina will deliver whole genome sequence data for the project. A team led by David Bentley, PhD, vice president and chief scientist of Illumina, will also work with the University of Cambridge to develop workflow and processes to bring routine clinical whole genome sequencing to patients’ bedsides. Overall, the partnership hopes to discover the genes underlying rare genetic diseases, which in turn could lead to new tests for these difficult-to-diagnose disorders and new opportunities for treatment.

Tute Genomics, Lineagen Team Up on Autism Spectrum Disorder Test
Tute Genomics has inked an agreement with Lineagen to provide next-generation sequencing (NGS) analytics for Lineagen’s NextStepDx Plus screening service, an NGS-based test designed to increase the clinical detection of previously unknown single nucleotide genetic variants linked to autism spectrum disorders (ASD) and other disorders of childhood development. This testing service, which Lineagen anticipates launching later this year, will build on the capabilities of Lineagen’s FirstStepDx Plus, a customized chromosomal microarray that also serves as a genetic diagnostic test for ASD and childhood development disorders. In a prepared statement, Lineagen indicated that it chose to use Tute Genomics’ NGS analysis platform for NextStepDx Plus because of the Tute Genomics leadership team’s experience with ASD discovery, in addition to the Tute Genomics platform’s ability to rapidly and accurately analyze complex whole exome data and generate customized clinical reports.