Partners HealthCare has launched clinical whole-genome sequencing and interpretation services for patients with suspected genetic conditions as a collaboration between Partners Laboratory for Molecular Medicine, Mass General Hospital and Brigham and Women's Hospital.
Sequencing will be done in Illumina's CLIA laboratory on the Illumina HiSeq platform to at least 30-fold coverage. Researchers at LMM will perform computational analysis and geneticists and clinicians at MGH and Brigham and Women's Hospital will analyze and interpret the data using GeneInsight. The report returned to the physician will include information on variants related to the patient's disease and will also include a second report on incidental findings that includes the 24 diseases recommended by the American College of Medical Genetics and Genomics. A single genome will cost $9,000, a parent-child trio $18,000, and interpretation only will cost $5,000.
GeneDx has launched OncoGeneDx panels for inherited cancer (see story, this issue). The panels include a 35-gene comprehensive cancer panel, a 26-gene breast and ovarian cancer panel, an 18-gene pancreatic cancer panel, and an 18-gene endometrial cancer panel. All panels will be run on Illumina's MiSeq instrument and will also include microarray-based deletion/duplication analysis.
Additionally, the company has launched Sanger-based BRCA panels, including a BRCA1 and BRCA2 sequencing and deletion/duplication analysis test, as well as an Ashkenazi Jewish panel that assess the three common Ashkenazi Jewish founder mutations to BRCA1 and BRCA2.
Real Time Genomics has launched rtgSingleton, a tool for analyzing genomic samples from individual samples. It also launched the beta version of rtgPopulation, for case-control and cohort applications. RtgSingleton is designed to analyze panels, exomes, or genomes on a case-by-case basis, while rtgPopulation is designed for two different scenarios: analyzing large sample numbers simultaneously or leveraging prior information obtained from a population dataset to improve analysis outcomes of population subsets. The two products complement Real Time Genomics' rtgFamily product, a tool for analyzing genomic information in childhood disease.