SAN DIEGO & BOSTON--(BUSINESS WIRE)-- Illumina, Inc. (ILMN) and Partners HealthCare today announced a strategic alliance to offer medical geneticists and pathologists infrastructure and networking tools to support the interpretation and reporting process for genetic sequencing data. The tools will integrate the functionality of Illuminas MiSeq sequencing system and Partners GeneInsight Suite, an IT platform that streamlines the analysis, interpretation, and reporting of complex genetic test results. The GeneInsight Suite is registered with the FDA as a Class I exempt medical device. Through the alliance, Illumina and Partners HealthCare are leveraging their respective areas of expertise to jointly enable a comprehensive sequencing and clinically relevant reporting solution for the Illumina family of next-generation based content sets. The new tools will link to Illuminas BaseSpace cloud computing platform and the MyGenome app for iPad, as well as to a clinical labs local laboratory information system (LIS). The solution creates a seamless workflow, starting on the MiSeq and delivering results directly into the GeneInsight tool, allowing laboratory personnel to interpret data accurately and with confidence. Illumina and Partners HealthCare share a vision of better patient care through genomics, said Matt Posard, Senior Vice President and General Manager of Illuminas Translational and Consumer … Continue reading →

Newswise African-Americans dont get kidney stones as frequently as Caucasians. Are they protected genetically? If so, identifying the genetic factors that retard kidney stone formation could lead to new ways to treat or even prevent this painful condition, according to Vanderbilt University researcher Todd Edwards, Ph.D. Kidney stones afflict one of every 11 Americans and cost the country more than $2 billion annually. Avoiding them could really make a difference for a lot of people, and could cut health costs dramatically, he said. Until recently, teasing out complicated kidney stone genetics would have required years of study, tens of thousands of patients and hundreds of millions of dollars. Now thanks to BioVU, Vanderbilts massive DNA databank, the mother lode is within reach. This month BioVU logged in its 150,000th unique genetic sample. It is now the worlds largest collection of human DNA linked to searchable, electronic health information, said Dan Roden, M.D., assistant vice chancellor for Personalized Medicine at Vanderbilt and BioVUs principal investigator. BioVU began collecting DNA in 2007. Discarded blood specimens from Vanderbilt patients are sent to the DNA Resources Core, where the genetic material is extracted and stored. If patients check a box on a consent form, … Continue reading →

NEW YORK (GenomeWeb News) Illumina and Partners HealthCare today announced a deal offering medical geneticists and pathologists infrastructure and networking tools for interpreting and reporting genetic sequencing data. The tools will integrate Illumina's MiSeq desktop sequencing platform with Partners' GeneInsight Suite, an IT platform for analyzing and reporting complex genetic test results, which is registered with the US Food and Drug Administration as a Class I exempt medical device. According to Illumina and Partner, the solution "creates a seamless workflow, starting on the MiSeq and delivering results directly into the GeneInsight tool." The partnership, the companies said in a statement, "enable[s] a comprehensive sequencing and clinically relevant reporting solution for the Illumina family of next-generation-based content sets." Illumina announced separately today the launch of five TruSight targeted sequencing content sets for autism, cancer, cardiomyopathy, and inherited disease, as well as an exome content set. The new tools from the alliance with Partners will link to Illumina's BaseSpace cloud computing platform, the MyGenome app for the iPad, and a clinical lab's local laboratory information system. The companies will release the combined MiSeq-GeneInsight solution to select pilot customers in the clinical testing space, including reference labs at leading academic institutions, molecular and … Continue reading →

SAN DIEGO--(BUSINESS WIRE)-- Illumina, Inc. (ILMN) today announced five initial TruSight content sets for use in next-generation sequencing (NGS) in laboratory settings. Designed by recognized experts at leading institutions, the content sets offer cost-effective, streamlined, targeted sequencing for specific genetic diseases or conditions. Customers can immediately leverage this content to develop their own tests, and in the first half of 2013 will have the additional capability to augment the sets with custom content. These products, developed in conjunction with leading healthcare experts including Childrens Mercy Center for Pediatric Genomic Medicine, Kennedy Krieger Institute, The Institute of Cancer Research, London, and Partners HealthCare (see additional Illumina-Partners HealthCare news today), are designed to provide comprehensive evaluation of genes associated with the following: The launch of these new NGS products is an exciting milestone for Illumina, said Jay Flatley, President and Chief Executive Officer for Illumina. We worked closely with the community to develop and introduce these first content sets, to ensure we are meeting the needs of laboratories and to enable results of high quality. Combining this content with already proven Illumina next-generation sequencing technology, via the MiSeq platform, will provide a powerful tool. TruSight content sets are comprised of oligo probes … Continue reading →

Being told you have a genetic predisposition to alcoholism could make you feel you have less control over your drinking, a new study suggests. The unique study adds to growing concern about the potential perils of direct-to-consumer genetic tests. Psychologist Ilan Dar-Nimrod from the University of Sydney and colleagues report their findings in the journal Genetics in Medicine. He says the latest findings show how genetic information has the power to change a person's emotional state, behaviour and attitudes. "We have about 1,600 genetic tests available now," Dar-Nimrod tells the Australian Broadcasting Corporation. "We should have better knowledge about how to communicate these results in a manner that doesn't create harm." He says for a few genetic-related diseases, having a particular gene means you will definitely get the disease, unless you die of other causes first. But in 98 per cent of cases the gene only increases your risk of a condition and that risk may be very small or very uncertain. Despite the lack of certainty around the impact of many disease-related genes, Dar-Nimrod says there is some evidence that people who test positive for them can become fatalistic and believe they will definitely develop the condition in question. … Continue reading →