Ambry Genetics Launches Public Genetic Database, Takes Stand on Data Sharing

By Lori Solomon, Editor, Diagnostic Testing & Emerging Technologies

Ambry Genetics (Aliso Viejo, Calif.) took a stance in the debate over sharing of genetic data this week. The genetic testing firm launched this week, AmbryShare, which it calls the largest free, disease-specific public database of human genome sequencing data. The company says this move will support global medical research and “breaks the mold of data hoarding” common at other academic and commercial testing facilities.

AmbryShare is initially based upon data from 10,000 patients who all had breast or ovarian cancer and were tested through Ambry’s clinical laboratory for genetic variants. At the company’s expense, Ambry conducted additional exome sequencing on the samples. AmbryShare will contain anonymized, aggregated data from these 10,000 samples, to ensure no risk to patient privacy. (The patients had consented for their samples to be used in research.) The company says it will continue to sequence samples and release the data for all of its consented and de-identified patient samples. It estimates based on volume projections that the company could potentially contribute data from nearly 200,000 genomes annually.

“Before today, we actually knew very little about the genes contributing to hereditary breast and ovarian cancer. By releasing these data to the public, we are hitting the fast-forward button on medical research,” said Aaron Elliott, Ph.D., Ambry’s chief operating officer, in a statement. “We intend to do this for all the conditions we test for to better understand the genetic component of human disease.”

Many fear that the ongoing debate over the ownership of genetic data is slowing data sharing efforts that are needed to advance genetic understanding of complex diseases. But, the question of who owns genetic data remains a contentious issue the industry is still grappling with. Direct-to-consumer testing company 23andMe (Mountain View, Calif.) sells access to its data to pharmaceutical and biotech companies. Myriad Genetics (Salt Lake City), which initially held a monopoly on testing for the hereditary breast and ovarian cancer BRCA gene until the Supreme Court struck down gene patentability, still maintains a large, proprietary database of related genetic mutations.

Ambry Genetics is looking for support from the medical community, asking clinicians to provide clinical information for each patient as possible, including patient family medical histories through Progeny’s Family History Questionnaire. Currently the AmbryShare platform requires some understanding of bioinformatics, but in the future, the company will expand the site to include information targeted at clinicians and the general public. Eventually, the AmbryShare database will be compatible with third-party registries and other open-source databases (such as the National Center for Biotechnology Information’s ClinVar, to which Ambry Genetics contributes). The company envisions a future where data sharing will enable genetic science to be more collaborative.

In addition to the launch of AmbryShare, last month the company announced it opened its 65,000 square foot “Super Lab.” The company says that the additional capacity will enable it to initially triple the number of patient samples it processes on a daily basis, although the Super Lab is designed to ultimately increase the company’s current capacity nine-fold. Central to the expansion of capacity is the full automation of the laboratory. The company says a custom-built conveyor belt system moves samples through each part of the testing process, photographing the sample and scanning the sample barcode along the way, which both shortens testing time and reduces the risk of human processing errors. Additionally, the laboratory physically separates accessioning and isolation areas to lower the risk of sample contamination. Since it is located in earthquake-prone California, the company also invested in zero-vibration flooring that prevents errors from shaking equipment. “Even a 747 aircraft could land on the second floor without shaking the equipment and causing errors to the results,” the company says.