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Genetics company launches huge open-access database

14 March 2016
Appeared in BioNews 843

Genetic-testing company Ambry Genetics has launched a huge database of cancer-patient genetics, freely available to the public.

This allows the data to be used by medical research scientists around the world – an unusual move for a private company at a time when some organisations are reluctant to release data.

'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, the company's CEO.

Founded in 1999, the privately owned healthcare company has sequenced half a million patient samples and is already a prominent contributor to databases such as ClinVar. It offers genetic tests for inherited and non-inherited diseases. These are not marketed directly to consumers but require input from a doctor or genetic counsellor.

The $20 million database AmbryShare will be disease specific, with the first upload consisting of aggregated, anonymous exome data from 10,000 genomes of hereditary breast and ovarian cancer patients, all of whom consented to this release.

The company predicts that they may be able to release data from up to 200,000 genomes annually, which will provide an important new resource for researchers searching for disease-associated genes. It could help researchers identify genes that could be used as drug targets.

'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 Professor Fergus Couch from the Mayo Clinic in Rochester, New York.  

As Professor David Haussler from the University of California, Santa Cruz, vividly put it during a recent conference: 'If you can only compare between the patients who have been treated at only your institution, you've just tied one hand behind your back and shot yourself in the foot.'

Although they will still retain the copyright to their data, Ambry's behaviour contrasts with some of their fellow genetic-testing firms, such as 23andMe, which sells customer information with consent (see BioNews 785). Ambry was also one of the first companies to share data on BRCA gene mutations after the US Supreme Court invalidated Myriad Genetics' patents over the genes (see BioNews 709).

Dunlop said: '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.'

SOURCES & REFERENCES
Ambry Freely Providing Aggregate Allele-Frequency Data From 10,000 Sequenced Cancer Patients
GenomeWeb |  9 March 2016
Ambry Genetics Launches AmbryShare
Ambry Genetics (press release) |  8 March 2016
Gene-testing company releases massive amount of cancer patient data — for free
STAT |  8 March 2016
Genetic Test Firm to Make Customers’ Data Publicly Available
New York Times |  8 March 2016
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