Largest Disease-Specific Public Database of Sequenced Human Genomes
News Mar 15, 2016
Ambry Genetics, a leader in clinical genetic diagnostics and genetics software solutions, took a radical step to fulfill the promise of unlocking the human genome by launching AmbryShare (www.AmbryShare.com), the largest free, disease-specific public database of human genome sequencing data. This action is a conservative first step to support the global medical research community and breaks the mold of data hoarding being done in academic and commercial organizations.
The first data released today are anonymized, aggregated data of 10,000 human genomes (exomes) focused on hereditary breast and ovarian cancer. Ambry Genetics has already identified 10-fold more genes implicated in these conditions than previously known to the public, broadening understanding and potentially opening up more drug targets than from any single data release in history. The company also is committed to continuing this effort to sequence genomes and release the data for all of its consented and de-identified patient samples, potentially contributing data from almost 200,000 genomes annually based on projections from its current sample volumes, and profoundly impacting the collective understanding of the genetics behind all human disease.
“As a stage four cancer survivor, 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,” said Charles Dunlop, Founder and CEO, Ambry Genetics. “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.”
This milestone is supportive of President Barack Obama’s Precision Medicine Initiative, and reflects Ambry’s position in the ongoing debate over the ownership of genetic data. Mr. Dunlop believes that human genes should not be patented or owned. That is why, in the aftermath of the U.S. Supreme Court 2013 decision around gene patents, he continued the fight that led to court decisions essentially eliminating the validity of gene patents. This belief also fuels why Ambry Genetics is doing additional genome sequencing at its own expense, releasing aggregate allele-frequency data (showing the percentage of people with a specific gene mutation) 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,” said Fergus J. Couch, Ph.D., Professor and Chair of the Division of Experimental Pathology and Laboratory Medicine at the Mayo Clinic, Rochester, MN. “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. Mr. Dunlop said this all helps to speed the discovery of new diagnostic targets, treatments, and cures, 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 Progeny’s Family History Questionnaire. Mr. Dunlop notes that this additional information will dramatically impact our ability to understand all human disease within our lifetime.
“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,” said Aaron Elliott, Ph.D., Chief Operating Officer and Interim Chief Scientific Officer, 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.
Ambry Genetics is one of the largest and fastest growing genetic testing companies by volume and revenue, with a growing database of genomic data amassed from more than a decade of genetic diagnostic testing, including results of the first commercially-offered human exome sequencing services. The 16-year-old, privately-held company has actively shared data as one of the biggest contributors to public variant interpretation databases, scientific presentations, and peer-reviewed publications. In February, Ambry Genetics opened its Super Lab, one of the largest, most sophisticated genetic testing laboratories in the world with a high volume capacity and rigorous quality control practices. The new laboratory, together with Ambry’s 2015 acquisition of Progeny, the industry standard for genetic risk modeling software used in clinics to gather important family history data, are both key contributions to building a useful publically-available database, and a critical first step toward understanding human disease and quickening the pace of cures.