If you would like to attend the webinar which is taking place next Tuesday 18 June at 11 am ET titled “HaloPlex Disease Research Panels Overview and SureCall Demo” and will be presented by Sheila Purim, Product Manager, NGS Target Enrichment Solutions, and Anniek De Witte, Product Manager, CGH and NGS Software, Agilent Technologies, then please register here.

 

 
ICCG’s plans to develop a database of genomic and phenotypic information were profiled in BioArray News: http://www.genomeweb.com//node/1232671?hq_e=el&hq;_m=1584790&hq;_l=2&hq;_v=44d06b20e0

 
The Sharing Clinical Reports Project (SCRP), affiliated with the ICCG project and led by Dr. Robert Nussbaum, has been profiled in the New York Times.  The article describes the project’s grass roots efforts to collect clinical reports generated by Myriad Genetics on BRCA1 and BRCA2 from clinicians and make the information publicly available in ClinVar. Congratulations to the SCRP staff for all of their hard work!
The Cancer Cytogenomics Microarray Consortium (CCMC) has scheduled its 4th summer meeting which will be held in conjunction with the Cytogenomics Array Group (CAGdb) meeting. The joint conference will be held at the Swissotel in Downtown Chicago on August 5-7, 2013.

The first half of the meeting will be devoted to cancer-related topics and will include invited presentations from leading cancer geneticists/genomicists, focusing on the clinically important as well as recent developments in cancer genomic diagnosis, prognosis, and management.

The second half of the meeting will focus on constitutional microarray analysis with various workshops planned for data interpretation, information sharing, database building and best practices in reporting and follow-up.

The mid-portion of the meeting (afternoon of Day 2) will cover practical topics that relate to both cancer and constitutional diagnostics such as microarray data quality metrics.

Additionally, we are providing an optional short workshop at the end of the meeting for any attendees new to microarray analysis or desiring a hands-on interactive session for microarray interpretation. During this 2 1Ž2 hour final session, we will review useful databases and provide hands-on demonstrations for microarray interpretations.

Abstracts will only be presented in the first half of the meeting and therefore submissions should focus on cancer-related topics. All abstracts will be published in the journal Cancer Genetics.

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Submit Abstract: Deadline is April 22, 2013

Register for the Meeting: Early Registration Deadline is July 9, 2013

Book Hotel Room: Discount Rate until July 9, 2013

Preliminary Program: Download a copy or a Poster for display

Become a CCMC Member

Please visit www.cancergenomics.org for more information.

 
The problem of interpreting variants discovered through clinical testing in the BRCA1 and BRCA2 genes, as well as in many other genes involved in hereditary disorders, is one of the most critical problems facing clinical geneticists and their patients. In response to this need, the NIH and, in particular, the National Center for Biotechnology Information (NCBI) is planning on launching a publicly available, open access database called ClinVar, to host fully de-identified genotype and phenotype information for hereditary disease gene variants.

The goal of this project is to put variants in BRCA1 and BRCA2 that have been reported by Myriad Genetics, Inc. to cancer genetics or hereditary cancer clinics in the US since January 2006 into ClinVar. This date was chosen because it is when the company stopped sharing their variant information with the Breast Cancer Information Core (or BIC) database. The BIC was established as an open-access international collaboration for hosting an online BRCA1/2 mutation database, currently located at the National Human Genome Research Institute. All data obtained through the effort described here and submitted to ClinVar would automatically also be submitted to the BIC.

The ultimate need to expand this effort to include (all) other genes is readily apparent and there is a parallel effort underway to collect similar kinds of information for many medically-relevant genes directly from the clinical testing companies themselves for deposit into ClinVar. However, BRCA1 and BRCA2 arguably represent the most thoroughly sequenced genes in all of human genetics. Because of the clinical importance of BRCA1 and BRCA2, the restrictions on who can do clinical testing in the United States, and the loss of open access to the variant database maintained by Myriad Genetics, Inc. for the past 5+ years, BRCA1/2 represents a special case where we are seeking this information from the providers who ordered the test instead of the laboratory doing the testing.

The future of molecular genetic testing depends on having data on the clinical validity of variants, e.g. their penetrance, if we are going to make any progress. This is especially true once large-scale whole exome or genome sequencing becomes more widespread and variants in thousands of disease genes are uncovered as incidental findings. There is a clear international consensus that we need openly accessible, variant databases for all disease genes, BRCA1 and BRCA2 included.

Please consider lending your support to this effort. With the current situation, we cannot learn from each other’s experiences. Participation by even a subset of the many clinics listed in the NCI Directory as being involved in testing as part of the clinical care of hereditary breast and ovarian cancer patients will begin to address one of the most critical challenges facing our field and will ultimately benefit everyone involved in caring for patients and their families with hereditary breast/ovarian cancer.

This project is supported by an NIH grant obtained by the Laboratory for Molecular Medicine, and is further supported by private funding.