"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."
- Ambry Genetics CEO and founder Charles Dunlop
In its purest form, science seeks to determine how the world works and endeavors to improve the human condition. Yet, the current culture of research undermines this value-system, as institutions across the nation look for ways to capitalize on discoveries. The commodification of information, particularly of the genome, hinders innovation and prevents the discovery of novel drugs and cures., researchers can either seek revenue for their underfunded research or ensure the accessibility of scientific knowledge, but they can't do both.
It's not clear whether academic solidarity will prevail, universities increasingly rely upon licensing revenues and keep information proprietary. Although genes can no longer be patented in the U.S. due to the 2013 Supreme Court case, Association for Molecular Pathology et al. v. Myriad Genetics, most researchers perceive little benefit in sharing raw data. They silo their work and therefore, hamper innovation. The solution to this roadblock lies in the new, remediating, and open-access genomic libraries.
Ambry Genetics (Ambry), a leading genetics company, recently revealed its bypass to closed-door labs and patented information. It created a genomic library, AmbryShare, making the DNA data of 10,000 people available online to the public. And it's the first private company to do so. While Ambry retains copyright, researchers now can easily download the data for free and investigate the genetic determinants of disease.
The New Era of Private Genomic Libraries
In creating this genomic library, Ambry sequenced the exomes of 10,000 patients. Exomes constitute only 1.5 percent of the genome, but provide valuable data about the genetic variants that led to cancers. The database is an addition to the Broad Institute's Exome Aggregation Consortium, which hosts a similar database containing information from more than 60,000 exomes. AmbryShare reinvigorates scientific ideals by directly supporting President Obama's Precision Medicine Initiative (PMI). One of many Big-science plans pivoting towards data sharing, PMI charges the scientific community with developing a genetic and medical database of one million people. Enabled by shared data, researchers can develop novel disease prevention and treatment plans to address small but significant differences in genetic makeup.
Yet AmbryShare is not without its critics. Some fear that the database will lead to false positives and privacy breaches. Bioethicists like Dorothy Roberts of UPenn Law worry about false positives, such as race-specific gene differences. Roberts asserts that society has politically constructed race without a biological basis, and that researchers could support racism by misattributing differences in the genome as evidence of race. Scientists can address this concern by removing the race question from patient profiles.
Because the genomic library is public, many patients worry about privacy breaches. Yet both Ambry and the federal government plan rigorous measures to protect to ensure privacy. First, the White House will involve Federal agencies, patient groups, bioethicists, advocates, and technologists in the conversation. Secondly, the database will be limited to qualified researchers. Ambry will retain patient profiles to prevent identification. Lastly, Ambry will aggregate the genetic data, and provide a synopsis of how genes differed between patients with and without cancer.
Room for Debate: Patients as Partners
Along with these libraries, PMI will support a patient-powered research cohort including medical records, gene profiles, chemical and microorganismal make-up, and environmental and lifestyle data. The National Institutes of Health (NIH) hopes genomic libraries will strengthen clinical and research networks, as well as ensure that patients are active participants and partners. While it's clear that patients can actively participate in the database by contributing their genome, neither PMI nor Congress has defined what patient partnership entails.
Another concern with genomic libraries is the role of patients as partners in research. Though Ambry considers its patients as partners, the database contributors were never informed about the project in advance of its release. Instead, in accordance with ordinary protocol, Ambry obtained consent from the patients to use their samples for research. The company then generalized this consent to include AmbryShare, when it made the patient's genetic data public but unidentifiable. Some argue that the lack of communication between Ambry and its database contributors erodes partnership.
As Jim Conway, senior vice president of the Institute for Healthcare Improvement said, "[Researchers] haven't been trained to share responsibility or to trust in the perspectives of other partners [such as patients]." While patients have a right to their medical records, most researchers do not make it clear whether patients can own their DNA. Patient ownership can stifle diagnostic testing and research, acting as roadblocks to cures just like gene patents did. While genomic libraries promise coherent networks between scientists, companies and big-science initiatives have yet to clarify what patient partnership entails in practice.
In any case, genomic databases are better off when they are free and publically accessible. Unhindered by ownership claims, these libraries promise better health outcomes, support stronger research networks, and reinvigorate scientific ideals.