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THE sequencing of the human genome promises unparalleled opportunities to fight disease, identifying the genetic variants that predispose us to various illnesses or protect us from them.
In support of that noble endeavour, thousands of people around the world have donated their de-identified genetic information to free, publicly accessible databases such as those held by the 1000 Genomes Project.
Such projects are an invaluable resource for researchers but, in an age when so much information is available online about all of us, can the donors be assured their genetic information will remain private?
The answer, according to researchers at the Whitehead Institute for Biomedical Research in the US, is definitely not.
Using only the gene sequences from these free databases and other publicly accessible online information, the researchers were able to identify dozens of individuals who had donated their genetic information.
How? The answer lies with another group of people engaged in a quest to understand what makes us who we are — amateur genealogists.
Recognising that surnames tend to be passed down the male line, genealogists are increasingly turning to analysis of gene sequences on the Y chromosome in a bid to identify patrilineal relatives — and they’re putting the information linking those male gene sequences to particular surnames online.
Sites such as the Sorenson Molecular Genealogy Foundation and ysearch allow genealogists — and others — to submit and search genetic data to find people with a common ancestor.
The Whitehead researchers found the same process could, in some cases, reveal the surnames of those who had donated their genetic information to a scientific database.
“We show that if, for example, your Uncle Dave submitted his DNA to a genetic genealogy database, you could be identified”, one of the researchers said in a press release. “In fact, even your fourth cousin Patrick, whom you’ve never met, could identify you if his DNA is in the database, as long as he is paternally related to you.”
The research has been reported in Science.
Once they had a surname, the researchers were able to identify a number of individual donors with the help of other de-identified information in the scientific databases, such as age and US state of birth.
Obviously, they haven’t revealed that information as the purpose of their study was to highlight the risk to donors’ privacy, not to breach it themselves, but others may not be so respectful.
Similar techniques have already been used by men who have been adopted or conceived from anonymous donor sperm to find their biological fathers. While I believe everyone is entitled to know their genetic origins, this wouldn’t seem the best way of achieving that aim.
Once again, we’re faced with a conflict between the desire to further knowledge and find new weapons against disease, and the imperative to protect the rights of those who volunteer to participate in this kind of research.
The right to privacy, in particular, is increasingly under threat as we surrender more and more of our personal information to cyberspace.
Genealogical websites already link hundreds of thousands of surnames to associated genetic data — potentially allowing the identification of millions of people — and that number is only going to increase.
Nobody would want to shut down the rich source of knowledge and information sharing we have created in cyberspace, least of all these researchers.
“In our view, the appropriate response to genetic privacy challenges such as these is not for the public to stop donating samples or for data sharing to stop — which would be devastating reactions that could substantially hamper scientific progress”, they write.
Instead, they believe we need clear policies and legislation to prevent misuse of genetic information, as well as education of donors about the benefits and risks of their involvement.
Which sounds good, but it’s not going to be easy.
As we begin a new year let’s hope the things you wish to keep private remain so.
Jane McCredie is a Sydney-based science and medicine writer.
Posted 21 January 2013