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Genetics Company Makes Available Cancer Sequencing Database

DNA molecules

DNA molecule display (Christian Guthier, Flickr)

8 March 2016. A genetic testing company is making freely available a database of genomic sequencing data from patients with breast and ovarian cancer. The database, from 10,000 human genomes but with personal identity removed, is offered by Ambry Genetics in Aliso Viejo, California.

Ambry Genetics is a 16 year-old company offering genetic tests for cancer, neurological disorders, and heart disease, as well as associated services connecting genetic test results with family medical histories. Ambry say it’s the first enterprise to offer commercial exome sequencing, that focuses on the 2 percent of base pairs in the genome covering 85 percent of disease-causing variations. In addition, the company’s founder and CEO Charles Dunlop, is a cancer survivor who considers access to information about cancer as important as finding the best treatments.

AmbryShare, the database being made available to the public, will first offer data from its test archives, with the consent of the individuals and personal identifies removed. The data will contain exome sequences from breast and ovarian cancer patients. The company plans to continuously add data to AmbryShare, with up to 200,000 new entries added each year.

The AmbryShare service is now designed for bioinformatics specialists, but Ambry says it plans to add features for medical professionals and individuals. Eventually says the company, AmbryShare will be compatible with other open-source databases, including ClinVar from National Center for Biotechnology Information, to which Ambry already contributes data. To support AmbryShare, Dunlop is asking clinicians to provide as much family history information as possible through its online questionnaire.

Dunlop and Ambry are known as aggressive opponents of intellectual property restrictions on genetic data. The company fought efforts by genetic test competitor Myriad Genetics to block Ambry’s use of DNA-based tests for BRCA1 and BRCA2 genes associated with hereditary breast and ovarian cancer. In February 2015, Ambry settled a patent-infringement suit brought by Myriad Genetics, University of Utah Research Foundation, and others after a Federal appeals court in December 2014 ruled that claims from three of their patents covering DNA-based BRCA1 and BRCA2 tests did not contain subject matter eligible for patent protection.

“As a stage-four cancer survivor,” says Dunlop in a company statement, “I find it shocking that public and private laboratories routinely lock away vital genomic information. That practice is delaying medical progress, causing real human suffering, and it needs to stop.”

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