Why data sharing will help advance genomic treatment
A professional organization is calling for the open sharing of patients’ laboratory and clinical data to complement the results of their genetic testing.
The American College of Medical Genetics and Genomics took the position in the most recent edition of its journal, Genetics in Medicine. The group is taking the position because it believes that the release of that data is crucial to ensuring that patients receive “the most informed care possible.”
In addition, sharing information will enable clinical labs that are working with the results of genetic and genomic testing to achieve the best results possible, the organization believes. And it says that better information sharing practices are more likely to achieve results that provide benefits to overall medical research.
The position comes from ACMG’s board of directors and is intended as an educational resource for medical geneticists and other healthcare providers.
The organization notes that, particularly in treating rare genetic diseases, there is a wide variety in “clinical presentation and molecular etiology of genetic disorders.” With the 5,000 to 7,000 rare genetic diseases facing clinicians, a collaborative approach in gathering intelligence on these diseases is crucial, the organization says.
“No single provider, laboratory, medical center, state or even individual country will typically possess sufficient knowledge to deliver the best care for patients,” it contends.
Because genetic testing detects variants that require specialized care, that requires information to be widely shared among providers in order to achieve the most effective treatment, ACMG says.
“Information that underpins healthcare service delivery should be treated neither as intellectual property nor as a trade secret when other patients may benefit from the knowledge being widely available,” the organization’s position paper notes.
“Sharing data in this precompetitive space will provide both a resource for clinical laboratories interpreting test results and clinical validity data that can benefit device manufacturers developing new tests and testing platforms,” the statement adds.
Making clinical information more widely available also can make existing datasets richer, improving the chances that they can be used to help solve vexing medical problems.
“Contributing to public clinical databases in the pre-competitive space recognizes that information about genetic diseases is dense and accumulating rapidly, and that information science is empowering the use of big data,” the article notes. “Further, the shift to public databases being populated by de-identified case-level information from electronic health records will speed the time to ‘publication’ of what are essentially case reports in real time.”
The ACMG paper notes that the importance of data sharing is being more widely recognized as crucial in gaining more benefits from genomic testing and information being gathered during clinical care of patients.
The importance of data sharing for both research and clinical care recently was highlighted by a policy of the National Institutes of Health, which set a directive for its funded investigators to responsibly share information on genomic variants and phenotype data. That will provide the robust information necessary to improve clinical care and empower device and drug manufacturers that are developing tests and treatments for patients.
However, achieving the open sharing of information will be difficult, the position paper admits.
“The analytic challenges of migrating and integrating clinical and laboratory data across the genome are daunting,” the organization notes. “Standardization of laboratory and clinical information will enable data compatibility and interoperability between information systems.” Also, improving the security of data systems is critical in enabling data to be shared safely.