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Quest Diagnostics and Inserm Launch Multinational BRCA Gene Datashare Initiative, with LabCorp as First Participant, to Improve the Detection of Inherited Risk of Breast and Ovarian Cancers

Quest Diagnostics (NYSE: DGX), the world’s leading provider of diagnostic information services, and Inserm, the French National Institute of Health and Medical Research institution, recently launched BRCA Share™, a novel datashare initiative they co-founded to provide scientists and laboratory organizations around the world with open access to BRCA1 and BRCA2 genetic data. The program’s goal is to accelerate research on BRCA gene mutations, particularly variants of uncertain significance, to improve the ability of clinical laboratory diagnostics to predict which individuals are at risk of developing hereditary breast and ovarian cancers.

Quest Diagnostics Introduces BRCAvantage Plus, Providing New Choices in Genetic Breast Cancer Risk Testing

Quest Diagnostics (NYSE: DGX), the world’s leading provider of diagnostic information services, recently announced BRCAvantage Plus, the company’s first suite of lab-developed test services for assessing genetic breast cancer risk based on clinically validated non-BRCA as well as BRCA genes. The new service is now available in all 50 states.

Syapse Joins Free the Data! Initiative and Provides Software to Power Participant-centric Hereditary Gene Mutation Database

Syapse, the leader in software for bringing omics into routine medical use, announced that it has joined the Free the Data! initiative. This consortium of policy makers, advocacy organizations, individuals, academic centers, and industry aims to fill the public information gap caused by the lack of available genetic information for the BRCA1 and BRCA2 genes, and plans to expand to provide other types of genetic information in an open, searchable database.

Syapse will provide the software infrastructure for the Free the Data! initiative, enabling powerful data mining, visualization, and reporting. Participants will be able to visualize their own variations and clinical data in comparison to those already in the database, while clinicians will be able to utilize variant interpretation in medical interactions. Researchers, industry, and others can utilize Syapse data mining tools to interrogate the variants, interpretation, and evidence, along with clinical data submitted by participants. Participants will have full control over data sharing and privacy preferences of the data they contribute. The campaign shares all variants with ClinVar, the National Institutes of Health public database, unless the participant dictates otherwise.

“Despite national attention on the patentability of human genes, a ruling against gene patentability doesn’t immediately provide broad access to BRCA1 and BRCA2 variants or place them in a public database that will allow for better diagnosis and care,” said Sharon F. Terry, M.A., president and CEO of Genetic Alliance. “Syapse provides the best platform for integrating complex genomics and clinical data from disparate sources, and reporting it in a dynamic and relevant interface to participants and clinicians. We are excited to be using Syapse software to enable all individuals to access genetic mutations and their clinical interpretations in order to improve care.”

“Syapse is pleased to join Genetic Alliance, University of California San Francisco (UCSF), InVitae Corporation, and advocates in the Free the Data! initiative to crowdsource the interpretation of BRCA1 and BRCA2 variants,” said Jonathan Hirsch, Founder & President of Syapse. “Syapse is committed to the free and open interpretation of the genome, but interpreting the genome requires a larger evidence base than any one entity can develop. Pooling genetic and clinical data will rapidly advance medical knowledge of clinically relevant genetic mutations, leading to more effective diagnosis, treatment, and cures.”

Individuals who have received genetic testing and who are interested in participating are invited to go to the Free The Data! project web site at www.free-the-data.org, and follow the instructions to upload test results, set privacy and sharing settings, and answer a brief questionnaire.

Individuals may also send a scan or PDF of the test report form with the personal identifying information blocked to Genetic Alliance by email at freethedata@geneticalliance.org or by facsimile at 202.966.8553.

We encourage individuals, advocacy groups, research organizations, physicians, policy groups, professional societies and industry to join the cause. For more information, please visit free-the-data.org or contact: 202.966.5557 x201.

Source: Synapse

Pathway Genomics to Launch Next-Generation Sequencing (NGS) Comprehensive Cancer Panel Including BRCA1 and BRCA2

Pathway Genomics, a genetic testing laboratory on the forefront of bringing physicians a broad genetic testing portfolio covering a wide range of diseases, announces the pending launch of its inherited cancer panel with BRCA1 and BRCA2.

Pathway Genomics’ Hereditary Cancer DNA Insight test utilizes next-generation sequencing (NGS) technology and will analyze genes related to a selection of hereditary cancers including breast, ovarian, colorectal and others. The company notes that it intends to introduce all their cancer panels in August 2013.

“I am delighted to see laboratories like Pathway offering genetic tests for inherited cancers,” said Linda Wasserman, M.D., Ph.D., former Director of the Clinical Cancer Genetics Care Unit at Moores UCSD Cancer Center. “Next-generation sequencing is a critical step in making actionable genetic information more accessible to the physician, ultimately benefitting the patient.”

Inherited BRCA gene mutations are responsible for approximately five percent of breast cancers and about 10-15% of ovarian cancers. Patients who have deleterious BRCA mutations may also have increased risk of other cancers.

Jim Plante, President and CEO of Pathway said, “Pathway is committed to innovation in health care and to improving the health of millions of patients with increased risk of developing cancer. We believe Pathway Genomics’ Hereditary Cancer DNA Insight is an important test in our genetic portfolio and it will enable the medical community to progress towards more personalized health care at an affordable price.”

Pathway Genomics’ genetic tests screen patient DNA using advanced technologies to provide scientifically-validated and actionable information for a wide range of genetic and inherited diseases including recessive diseases, traits that impact heart health, drug response and nutrition.

Source: Pathway Genomics

TCGA Study Brings Ovarian Cancer Patients Closer to Personalized Medicine

In the June 30 issue of Nature, researchers from The Cancer Genome Atlas (TCGA) Research Network provide a large-scale integrative report on genetic mutations and pathways that distinguish the most common and aggressive type of ovarian cancer from other types of ovarian cancer as well as from other solid tumors. The disease is not defined by one or few cancer-driving genes but rather numerous mutations that individually occur in only a small number of cases. Given the degree of genomic disarray, the study results suggest that genomic structural variation is the driver of ovarian cancer. The findings may be helpful in guiding physicians to choose experimental treatments that are most likely to target molecular alterations effectively in patients with high-grade serous ovarian adenocarcinoma.