Ambry starts genetic data dump with release of 10,000 exome cancer repository

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Ambry Genetics wants to make its trove of genome data freely available. The initiative got underway this week with the release of exome data from 10,000 of its customers that have had cancer of the breast or ovaries, a resource Ambry claims is the largest disease-specific, publicly available genome repository.

Aliso Viejo, CA-based Ambry has collected the data through its genetic testing business. Other gene testing players, such as 23andMe, are building businesses around the data they collect from clients, but Ambry has decided to take a different path. The result is AmbryShare, a platform through which researchers can access de-identified aggregate exome data from 10,000 cancer patients. Ambry is pitching the open-source approach as an attempt to ensure any insights hidden in the data come to light as soon as possible.

"We're going to discover a lot of new diagnostic targets and a lot of new drug targets," Ambry Interim CSO Aaron Elliott told The New York Times. "With our volume, we can pull out a significant number of genes just by the sheer number we are looking at."

At 10,000 exomes, the database currently falls short of scale of the Exome Aggregation Consortium (ExAC), a repository of 60,000 exomes coordinated by the Broad Institute. But, while ExAC has pulled in data from a range of disease-specific and general population genetic studies, the 10,000 exomes in AmbryShare are all from people with just two types of cancer.

Ambry has plans to broaden the scope of the database to include other diseases. "We have 600 different diseases on our menu," Ambry CEO Charles Dunlop told STAT. "We're going to try to do this with every single one of them." Ambry expects the scaling up of the program to lead to it adding up to 200,000 exomes a year to the database, a rate that would result in it quickly dwarfing ExAC.

The opening up of the trove could present a threat to companies that are trying to profit from data, although AmbryShare's utility is hindered by its lack of detailed phenotypic data. Researchers can only see whether a patient had breast or ovarian cancer.

- read the release
- here's the NYT's piece (sub. req.)
- check out STAT's article
- and OC Register's coverage