The American College of Medical Genetics and Genomics (ACMG) has just released a new position statement that tackles an incredibly complex problem for precision medicine—lack of sharing of genomic testing data.
The new position statement, published recently on the ACMG’s website under the title "Laboratory and Clinical Genomic Data Sharing is Crucial to Improving Genetic Health Care," states that "In order to ensure that our patients receive the most informed care as possible, ACMG advocates for extensive sharing of laboratory and clinical data derived from individuals who have undergone genomic testing. Information that informs healthcare service delivery should neither be treated as intellectual property nor as a trade secret when other patients may benefit from the knowledge being widely available."
There are an estimated 5,000–7,000 rare genetic diseases, each of which can vary dramatically by patient and be caused by a multitude of different genetic changes. Even common diseases with genetic influences may also have rare variants that influence the risk or severity of disease. The ACMG’s new position statement sought to tackle long-standing questions, such as: how a single provider, laboratory, medical center, or even state can possess sufficient knowledge about genetic conditions to deliver the best care possible for patients? How can we harness the massive amounts of genetic data that are currently being produced to improve patient care, continue to improve critical genetic testing, and further the promise of personalized medicine?
"The only way that the medical community is going to be able to make sense of the massive amount of genetic information that is now being generated is through broad and responsible sharing among researchers, clinical laboratories, and the clinic,” explained co-author of the new ACMG Position Statement James Evans, M.D., Ph.D., professor of genetics and medicine at The University of North Carolina. “If we do it in the way that the ACMG statement lays out, genomic medicine can be harnessed to benefit the health of all."
The ACMG Statement advocates for responsible sharing of data, which will provide a resource for clinical laboratories and treating physicians who interpret test results, as well as clinical validity data that can benefit laboratories and manufacturers who are developing new tests and testing platforms. Contributing research and clinical laboratory data to public databases for clinical curation is necessary before advances can make it to patients.
"Ultimately, genomic data sharing is going to be critical to advancing what we know about the genetic aspect of both rare and common diseases,” explained Michael Watson, Ph.D., executive director of the ACMG. “Responsible sharing of genomic variant and phenotype data will provide the necessary information to improve patient care and to empower those who are developing tests and treatments for patients to continue to improve genetic testing. ACMG believes everyone should have access to the best medical information and that it shouldn't be held as intellectual property or a trade secret."
The ACMG believes that in order for data sharing to be done in a way that doesn't result in the compromise of privacy for patients and providers, systems are required that: ensure the security of databases, whether centralized or federated; guarantee the privacy of patient and family medical information; and provide transparency in the documentation of data sharing transactions.