Genomic data sharing is critical to improving genetic health care

January 5, 2017

There are an estimated 5,000 - 7,000 rare genetic diseases, each of which can vary dramatically 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 of disease or how severe the disease might be. How can a single provider, laboratory, medical center, or even state possess sufficient knowledge about genetic conditions in order to deliver the best care possible for patients in need of care? 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 American College of Medical Genetics and Genomics (ACMG) tackles these extremely complex questions in its new position statement, "Laboratory and Clinical Genomic Data Sharing is Crucial to Improving Genetic Health Care." The new position statement says, "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."

"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. If we do it in the way that the ACMG statement lays out, genomic medicine can be harnessed to benefit the health of all," said James P. Evans, MD, PhD, co-author of the new ACMG Position Statement.

Information about genetic diseases is accumulating rapidly and information science is empowering the use of 'big data' with the goal of improving patient care and advancing personalized medicine. The ACMG Statement advocates for responsible sharing of data, which will provide both a resource for clinical laboratories and treating physicians who interpret test results and also 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. Responsible sharing of genomic variant and phenotype data will provide the necessary information to improve and to empower those who are developing tests and treatments for patients to continue to improve 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," said Michael S. Watson, PhD, executive director of the ACMG.

It's essential to note that Genomic Data Sharing will not comprise an individual's privacy. Importantly, broad data sharing is compatible with the critical imperative of protecting the privacy of individual healthcare information and the security of data systems holding that information. 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; ensure the privacy of patient and family medical information; and provide transparency in the documentation of data sharing transactions.

Explore further: ACMG releases updated position statement on noninvasive prenatal screening for detection of fetal aneuploidy

More information: undefined ACMG Board of Directors. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics, Genetics in Medicine (2017). DOI: 10.1038/gim.2016.196

Related Stories

ACMG releases updated position statement on noninvasive prenatal screening for detection of fetal aneuploidy

July 28, 2016
Noninvasive prenatal screening using cell-free placental DNA circulating in maternal blood (NIPS) has been rapidly integrated into prenatal care since the American College of Medical Genetics and Genomics (ACMG) released ...

Big Data can save lives, says leading cancer expert

May 16, 2016
The sharing of genetic information from millions of cancer patients around the world could be key to revolutionising cancer prevention and care, according to a leading cancer expert from Queen's University Belfast.

ACMG issues new recommendations for reporting secondary findings in genomic sequencing

November 17, 2016
In order to promote standardized reporting of medically actionable information from clinical genomic sequencing, the American College of Medical Genetics and Genomics (ACMG) in 2013, published a minimum list of genes to be ...

Making the case for global genomic data sharing

November 8, 2016
The scientific community may be overlooking a significant barrier to international collaboration reflected in a series of recent surveys: potential public resistance to sharing of genomic and other health data across national ...

Returning genetic incidental findings without patient consent violates basic rights, experts say

May 16, 2013
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of ...

A new era for genetic interpretation

May 27, 2015
Millions of genetic variants have been discovered over the last 25 years, but interpreting the clinical impact of the differences in a person's genome remains a major bottleneck in genomic medicine. In a paper published in ...

Recommended for you

A rogue gene is causing seizures in babies—here's how scientists wants to stop it

July 26, 2017
Two rare diseases caused by a malfunctioning gene that triggers seizures or involuntary movements in children as early as a few days old have left scientists searching for answers and better treatment options.

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.