A group of top-flight geneticists from a dozen countries is creating an organization to break down barriers to data sharing in genetic research in the hope of speeding up the discovery of new ways to treat everything from common killers like cancer to rare disorders.
"There's some tremendous, groundbreaking science taking place, but it's happening in an isolated, balkanized fashion," Tom Hudson, president and scientific director of the Ontario Institute for Cancer Research (OICR), said in an interview. "Now we need some technical standards and organization to accelerate that science."
Almost every human ailment has some genetic basis, so the notion that studying DNA and genetic mutations will help scientists understand the causes of diseases and develop life-saving treatments holds much promise.
Dr. Hudson, a world-renowned geneticist, is one of the scientists spearheading the new initiative, the Global Alliance to Enable Responsible Sharing of Genomic and Clinical Data, which was announced on Wednesday.
He likened the task to the challenge of early computer communication. The Internet, the global connection of computers, had existed since the 1960s. But in the late 1980s, international organizations formed the World Wide Web Consortium and agreed on common standards for the programming languages HTML and HTTP. That small technical change led to an explosion of Web pages and made electronic communication ubiquitous.
The cost of sequencing a human genome has fallen a million-fold in a generation, to about $5,000. Worldwide, millions of genomes have probably been sequenced already. But storing the information is expensive, and studying it even more so.
DNA is the chemical compound that contains the instructions that direct the activities of most living organisms. Genome is the term given to a complete set of DNA. Every cell in the body contains a complete copy of the approximately three billion DNA base pairs that make up the human genome.
Sequencing is determining the exact order of the bases in a strand of DNA. That can reveal genetic variations or mutations that can influence the development or progression of disease. With that information, scientists can develop treatments that alter the mutations to treat or prevent a disease. For example, in chronic lymphocytic leukemia, scientists used gene therapy to bolster T-cells (a key part of the immune system), allowing patients' bodies to destroy cancerous cells. But such treatments are still at the experimental stage.
The research is taking place in fields from Alzheimer's disease to ZAP70 deficiency. The problem, said Peter Goodhand, former CEO of the Canadian Cancer Society and now head of international partnerships at the OICR, is that the data are collected and studied in silos – by disease, by institution and by country – even though everyone agrees aggregating them would be better.
Mr. Goodhand said the fundamental problem is a lack of common standards for storing and sharing data and no agreed-upon rules for respecting the privacy of individuals' genomic information.
Dr. Hudson said those who tout the power of personalized medicine need to understand that it rests on the ability to analyze huge numbers of genomes to spot and understand recurrent mutations.
"The way we do things now, in isolation, is costly and inefficient," he said.
The consortium consists of more than 70 public and non-profit organizations, including the powerful U.S. National Institutes of Health, the Wellcome Trust Sanger Institute in the U.K. and the Beijing Genomics Institute in China. No decision has been made on allowing private-sector partners.
"The goal is not monetizing data. We're not trying to create the genomic equivalent of Facebook," Dr. Hudson said. "We want to be able to share data more easily and more responsibly to accelerate the science."
Mr. Goodhand said the consortium does not have a timetable. The priority is setting up a structure for formal discussion.
He acknowledged that there are some big challenges, particularly because genomics data are seen as very valuable, and many researchers and institutions do not want to give up control.
"We want to create a non-competitive space where we can come up with some standards that serve the public interest," he said.