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NIH Reboots Genomic Data Access After Patient Privacy Fears Eased

NIH has resumed public access to its genomic summary results after restricting access for ten years over patient privacy concerns.

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Source: Thinkstock

By Fred Donovan

- The National Institutes of Health (NIH) has resumed public access to its genomic summary results after restricting access for ten years over patient privacy concerns.

Genomic summary results “convey information relevant to genomic associations with traits or diseases across datasets rather than associations specific to any one individual research participant,” explained NIH in announcing the policy change.

The summaries provide important information for the interpretation and application of genomic data in research and clinical practice, it added.

NIH decided to restrict access to the genomic summary results following a 2008 study that demonstrated that it was possible to use them to link an individual to participation in a particular research group if one had access to the individual’s whole genome information.

Since then, NIH has sought public feedback through issuing a request for information and request for comment (RFC) and conducting stakeholder workshops on the patient privacy risks posed by access to genomic summary results.

In response to the RFC, NIH received 109 comments from stakeholders, most of which were in favor or granting access. The respondents were scientific researchers (79%), members of the public (7%), and institutional officials (3%). The respondents primarily identified their organizations as universities (46%), nonprofit research organizations (22%), and biotechnology/pharmaceutical companies (11%).

“What we have gleaned from these analyses and conversations is that unrestricted access to genomic summary results holds a great deal of potential benefits for research and clinical care, with low risk to participants’ privacy,” wrote Human Genome Research Institute Director Eric Green in a blog post.

“However, because there could be a small risk of learning information about individual participants in certain types of research, most stakeholders agree that additional protections should be available for studies where there might be additional privacy concerns, such as those that include populations from isolated geographic areas or with rare or stigmatizing traits,” Green added.

Ultimately, NIH has decided that the research benefits outweigh patient privacy risks from granting access to genomic summary results. NIH said it would keep restrictions on “sensitive” studies involving individuals from high-risk groups.

A study by Stanford University researchers published last year found that the use of cloaking could improve patient privacy in genomic research.

Cloaking “combines a protocol from modern cryptography with frequency-based clinical genetics used to diagnose causal disease mutations in patients with monogenic disorders,” according to the researchers.  

“Patient genomes are interpretable only in the context of other genomes; however, genome sharing enables discrimination,” the researchers stated. “Thousands of monogenic diseases have yielded definitive genomic diagnoses and potential gene therapy targets. Here we show how to provide such diagnoses while preserving participant privacy through the use of secure multiparty computation.”

Cloud computing is the key to this approach. Individual genomic data is encrypted and uploaded into the cloud where a secure computer analyzes the information. Only variants needed for specific generic research are revealed.

“Often people who have diseases, or those who know that a particular genetic disease runs in their family, are the most reluctant to share their genomic information because they know it could potentially be used against them in some way,” said Stanford Associate Professor of Developmental Biology, Pediatrics and Computer Science Gill Bejerano. “They are missing out on helping themselves and others by allowing researchers and clinicians to learn from their DNA sequences.”

Added Stanford Professor of Computer Science and Electrical Engineering Dan Boneh: “Basically, if you have 1 million people with genomic data they would like to keep private, this approach lets researchers analyze the data in aggregate and only report on findings that are pertinent. An individual might have dozens of anomalous genes, but the researchers and clinicians will only learn about the genes relevant to the study, and nothing else.”

The goal of the genomic cloaking method is to advance medical knowledge. Protecting patient privacy is important but sharing genetic information could help cure and prevent diseases in the future, the Stanford researchers concluded.


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