Stanford Researchers Completing Genome Analysis with Patient Privacy Ensured | Healthcare Informatics Magazine | Health IT | Information Technology Skip to content Skip to navigation

Stanford Researchers Completing Genome Analysis with Patient Privacy Ensured

August 23, 2017
by Rajiv Leventhal
| Reprints

Stanford researchers are now using a “genome cloaking” technique that scours complete human genomes for the presence of disease-associated genes without revealing any genetic information not directly associated with the inquiry.

This genome cloaking technique, devised by biologists, computer scientists and cryptographers at Stanford University, addresses many concerns about genomic privacy and potential discrimination based on an individual’s genome sequence, according to researchers.

Using the technique, the researchers were able to identify the responsible gene mutations in groups of patients with four rare diseases; pinpoint the likely culprit of a genetic disease in a baby by comparing his DNA with that of his parents; and determine which out of hundreds of patients at two individual medical centers with similar symptoms also shared gene mutations. They did this all while keeping 97 percent or more of the participants’ unique genetic information completely hidden from anyone other than the individuals themselves, according to the research.

“We now have the tools in hand to make certain that genomic discrimination doesn’t happen,” said Gill Bejerano, Ph.D., associate professor of developmental biology, of pediatrics and of computer science at the university. “There are ways to simultaneously share and protect this information. Now we can perform powerful genetic analyses while also completely protecting our participants’ privacy.”

The researchers specifically hope that routine implementation of their technique will help individuals overcome any qualms about privacy that may keep them from sharing their genome sequences. In particular, people may be concerned that DNA sequences or genetic variants currently unassociated with diseases may in the future be linked with as-yet-unidentified increases in risk.   

“These are techniques that the cryptography community has been developing for some time,” said Dan Boneh, Ph.D., professor of computer science and of electrical engineering.  “Now we are applying them to biology. 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.”

A key component of the technique is the involvement of the individual whose genome is to be studied. In particular, each individual encrypts their genome (with the help of a simple algorithm on their own computer or smartphone) into a linear series of values describing the presence or absence of the gene variants under study, without revealing any other information about their genetic sequence. The encrypted information is uploaded into the cloud and the researchers then use a secure, multi-party computation (a cryptographic technique that ensures the input data remain private) to conduct the analysis and reveal only those gene variants likely to be pertinent to the investigation, researchers explained.

“In this way, no person or computer, other than the individuals themselves, has access to the complete set of genetic information,” said Boneh. “In each case, the analysis was performed within seconds or minutes with moderate computing power. They hope to extend the technique to include diseases caused by combinations of multiple genetic variants or to handle tens of thousands of sequences such as those found in genome-wide association studies.”

Ultimately, stated the researchers, the goal is to find the best way to both share the genetic information with researchers while also protecting each patient’s privacy in order to advance medical knowledge.

Get the latest information on Health IT and attend other valuable sessions at this two-day Summit providing healthcare leaders with educational content, insightful debate and dialogue on the future of healthcare and technology.

Learn More

Topics

News

Analysis: Healthcare Ransomware Attacks Decline in First Half of 2018

In the first half of 2018, ransomware events in major healthcare data breaches diminished substantially compared to the same time period last year, as cyber attackers move on to more profitable activities, such as cryptojacking, according to a new report form cybersecurity firm Cryptonite.

Dignity Health, UCSF Health Partner to Improve the Digital Patient Experience

Dignity Health and UCSF Health are collaborating to develop a digital engagement platform that officials believe will provide information and access to patients when and where they need it as they navigate primary and preventive care, as well as more acute or specialty care.

Report: Digital Health VC Funding Surges to Record $4.9 Billion in 2018

Global venture capital funding for digital health companies in the first half of 2018 was 22 percent higher year-over-year (YoY) with a record $4.9 billion raised in 383 deals compared to the $4 billion in 359 deals in the same time period last year, according to Mercom Capital Group’s latest report.

ONC Roundup: Senior Leadership Changes Spark Questions

The Office of the National Coordinator for Health IT (ONC) has continued to experience changes within its upper leadership, leading some folks to again ponder what the health IT agency’s role will be moving forward.

Media Report: Walmart Hires Former Humana Executive to Run Health Unit

Reigniting speculation that Walmart and insurer Humana are exploring ways to forge a closer partnership, Walmart Inc. has hired a Humana veteran to run its health care business, according to a report from Bloomberg.

Value-Based Care Shift Has Halted, Study Finds

A new study of 451 physicians and health plan executives suggests that progress toward value-based care has stalled. In fact, it may have even taken a step backward over the past year, the research revealed.