Aspiring to fulfill the promise of unlocking the human genome, Ambry Genetics, Aliso Viejo, Calif, recently launched AmbryShare, the largest free, disease-specific public database of human genome sequencing data.
The first data released by the company are anonymized, aggregated records of 10,000 human genomes (exomes) focused on hereditary breast and ovarian cancer. According to the company, it has committed to continuing the effort to sequence genomes and release the data for all of its consented and deidentified patient samples, potentially contributing data from almost 200,000 genomes annually based on projections from its current sample volumes.
“As a stage-IV cancer survivor, I find it shocking that public and private laboratories routinely lock away vital genomic information,” says Charles Dunlop, founder and CEO of Ambry Genetics. “That practice is delaying medical progress, causing real human suffering, and it needs to stop. As Ambry’s CEO, I am fully committed to breaking the mold, sequencing genomes at our own expense and sharing the data on an ongoing basis. Above everything else we are all human beings, and as a 23-year veteran in the industry, I’m sick and tired of seeing suffering and death. I invite other commercial and academic laboratories to do the same.”
The launch of AmbryShare supports President Obama’s federal precision medicine initiative, and reflects Ambry’s position in the ongoing debate over the ownership of genetic data. In the aftermath of the 2013 US Supreme Court decision rejecting the patentability of genes found in nature (Association for Molecular Pathology v. Myriad Genetics Inc.), Dunlop continued the fight that led to court decisions essentially eliminating the validity of gene patents. Ambry Genetics is performing additional genome sequencing at its own expense, releasing aggregate allele-frequency data on an ongoing basis.
“Despite the promise of the Human Genome Project, medical advancements over the past decade have continued slowly because many researchers have lacked access to the kind of genomic information that Ambry Genetics is now giving away for free,” says Fergus J. Couch, PhD, professor and chair of the division of experimental pathology and laboratory medicine at the Mayo Clinic, Rochester, Minn. “Ambry Genetics’ decision to make these data available is a potential game changer in the efforts to understand hereditary breast and ovarian cancer and to improve care for individuals predisposed to these and other cancers.”
For the free AmbryShare database, Ambry Genetics has made a significant financial investment into building the infrastructure and human resources to support its ongoing commitment to data sharing and scientific collaboration. Dunlop says this all helps to speed the discovery of new diagnostic targets, treatments, and cures, and to save more lives, sooner. In addition, Ambry Genetics is looking for support from the medical community, asking clinicians to provide as much clinical information for each patient as possible—including patient family medical histories—through the company’s Progeny family history questionnaire.
“With today’s announcement, Ambry Genetics is building on its collaborative heritage by contributing the largest volume of hereditary cancer genome data ever released to the scientific community,” says Aaron Elliott, PhD, chief operating officer and interim chief scientific officer at Ambry Genetics. “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. We intend to do this for all the conditions we test for to better understand the genetic component of human disease.”
Currently, the platform for the AmbryShare database is ideal for bioinformatics professionals—experts in molecular biology who can understand and interpret the data. As the company builds the platform, the site will evolve to include information targeted at clinicians and eventually the general public. Ultimately, 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 is a heavy contributor—with the intent of making genetic science more collaborative.
For more information, visit Ambry Genetics.