Genetic Database and Genetic Privacy

Excerpted from “Accord Aims to Create Trove of Genetic Data,” The New York Times, by Gina Kolata. June 5, 2013 -- More than 70 medical, research and advocacy organizations active in 41 countries and including the National Institutes of Health announced Wednesday that they had agreed to create an organized way to share genetic and clinical information. Their aim is to put the vast and growing trove of data on genetic variations and health into databases — with the consent of the study subjects — that would be open to researchers and doctors all over the world, not just to those who created them. Millions more people are expected to get their genes decoded in coming years, and the fear is that this avalanche of genetic and clinical data about people and how they respond to treatments will be hopelessly fragmented and impede the advance of medical science. This ambitious effort hopes to standardize the data and make them widely available.


In just the past few years, the price of determining the sequence of genetic letters that make up human DNA has dropped a million fold, said Dr. David Altshuler, deputy director and chief academic officer at the Broad Institute of Harvard and M.I.T. As a result, instead of having access to just a few human genomes — the complete genetic material of a person, including genes and regions that control genes — researchers can now study tens of thousands of them, along with clinical data on peoples’ health and how they fared on various treatments. “The question is whether and how we make it possible to learn from these data as they grow, in a manner that respects the autonomy and privacy choices of each participant,” he said. No one wants to put DNA sequences and clinical data on the Internet without the permission of patients, he said, so it also is important to allow people to decide if they want their data — with no names or obvious identifiers attached — to be available to researchers. But there are no agreed-upon standards for representing genetic data or sharing them, experts say. And there are no common procedures for assuring that patients consent to sharing their information.

Dr. Francis Collins said that cancers are so genetically complex that, most of the time, a mutation seen in a cancer patient will be uncommon. To figure out its significance, data from hundreds of thousands of patients — the world’s collected data — on that mutation are needed. Pooled data are also needed to understand mutations that lead to rare diseases in children, Dr. Altshuler said. A disease might occur in one in 1,000 or one in 100,000 babies, he said. A medical center might never see a child with that disease, or might see just one. “Since everyone sees zero or one, no one ever learns,” Dr. Altshuler said.

Over the past couple of years, genetics researchers puzzled over the data-sharing problem, seeing it as central to making progress. On Jan. 28, 50 leading researchers from eight countries met and agreed on the need for a global alliance. The group, which included ethicists and disease advocates, stressed that because individual study subjects had to be able to decide whether to share their genetic and clinical information, the system for data sharing had to include ways to track and manage these permissions. The group wrote a white paper and a letter of intent that has now been endorsed by an ever-growing international group. “For us, this is a gratifying development,” Dr. Collins said. Full story can be found here.

Commentary

CMDA Member and Senior Fellow for Family Research Council David Prentice, PhD: "This is a very promising development in regards to moving ahead in genetic diagnosis and even treatments for a number of conditions, but as researchers move forward, there are significant problems that will be faced in maintaining genetic privacy and providing adequate informed consent. The potential for advances in diagnosis and treatment is tremendous. Large data sets are important for determining many genetic correlations, and rapid access to a large genetic database could speed discoveries. One hurdle to overcome will be development of standard formats for presenting genetic data. But a much bigger and very serious hurdle will be developing standards that maintain genetic privacy and anonymity, as well as providing full informed consent for anyone who agrees to participate in genetic studies and clinical testing.

"Such assurances will also be important in recruiting people for genetic studies, and as more genetic correlations are developed not only for diseases but for non-disease traits. The ability to identify someone based only on their DNA sequence and current public databases has already been demonstrated, so it is critical that privacy standards and even masking protocols be firmly in place before genetic information is made public. It will also be incumbent on those who develop and implement such standards that professionals and the public alike be aware of the real limits of genetics and genetic correlations. We are fearfully and wonderfully made, but that also means we are so much more than merely our DNA!

"Identifying Your Name Using Your DNA, http://frcblog.com/2013/01/identifying-your-name-using-your-dna/."

CMDA Ethics Statement: Use of Genetic Information and Technology
A History of Eugenics
Standards4Life: Human Genome