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New Products: Partners HealthCare's WGS Service; GeneDx's Hereditary Cancer Panels; More


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.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.