Importance of data sharing
No more (trade) secrets
Withholding information on the clinical significance of genetic variants from the scientific community impedes the progress of research and medicine.
Imagine you are a physician or researcher and seek to get more confirmation on the clinical impact of particular genetic variants. If your search of public databases comes up empty this does not necessarily mean that nothing is known about the mutations in question. Rather, the information may be locked away as a trade secret in a genetic testing company’s proprietary database.
Physicians and their patients are not able to independently verify the medical significance of a testing company’s finding, instead the results have to be taken on blind faith. Researchers are limited in their knowledge of the vast mutational landscape in genes associated with diseases such as cancer which in turn may limit their understanding of the molecular underpinning of the disease.
Robert Nussbaum, at the University of California, San Francisco, recently pointed out that in other fields of medicine such an approach would be unthinkable. In a Technology Review he said, “Imagine if radiological images or histopathology slides of cancers were examined by a single monopoly holder without the medical community being able to assess and learn from what these images and tissue specimens teach us.” He launched the Sharing Clinical Reports Project, an initiative to collect de-identified information on genetic testing data on the BRCA1 and 2 genes (as discussed in our August editorial).
With more genetic testing companies likely to enter the market, after the US Supreme Court invalidated some gene patents, the problems caused by proprietary data may increase. Clinicians may now have more options to obtain a genetic test, but, if they go with the less established testing company, they are then left with a suboptimal interpretation with possibly grave implications for the patient.
A resolution from the American Medical Association passed in June 2013 supports public access to genetic data. The resolution calls for companies, laboratories, researchers and providers to publicly share data on genetic variants in a manner consistent with privacy and HIPAA protections.
Whether such calls will be heeded is another question. In a New York Times OdEd piece aptly named “Our genes, their secrets” the author wonders if the recent Supreme Court decision will prompt genetic testing companies to rely more on this strategy of treating information on the clinical impact of mutations as trade secrets and thereby try to deter competition and ensure revenue.
How can this be prevented? Cook-Deegan et al. – in a recent article in the European Journal of Human genetics – call for joint action by national health systems, insurers, regulators, researchers, providers and patients to ensure broad access to information about the clinical significance of variants. Some of their suggestions, besides the promotion of voluntary sharing, include sharing as a condition of payment or regulatory approval of the testing laboratories.
The battle about who may offer certain genetic tests is certainly heating up. Ambry Genetics and Gene by gene, two of the companies now offering BRCA1 and 2 testing, have been sued by Myriad Genetics for patent infringement. A few days later, on July 12, US senator Patrick Leahy, a democrat from Vermont, wrote to Francis Collins, the director of the NIH, urging him to force Myriad to license the patent on reasonable terms to other parties to ensure affordable life-saving diagnostic tests. As the federal agency that provided the funding for the research behind Myriad’s patent the NIH has the authority to do so, based on a provision in the Bayh-Dole Act that enabled universities to own inventions based on federal funding. Whether it will exercise this authority is unclear. Collin’s reply is still outstanding.
Ambry Genetics disputes that it infringes any of Myriad’s patents and a company spokesperson told Nature Methods that Ambry plans to share their testing data.
If enough companies follow suit, the desirable equilibrium of compensating a company fairly for the cost of its test and at the same time letting the public benefit from the results of these tests should be within reach.