The Essay: Our genetic awakening brings benefits and risks
BY CHRISTINE KENNEALLY (BA(Hons) 1990)
Author of The Invisible History of the Human Race
A few years ago, CeCe Moore, an ex-TV-producer-turnedblogger, invented a new type of career. In the early days of genetic genealogy, when companies offered to read a small part of someone’s genome so they could trace family, Moore researched and blogged about DNA, eventually becoming a little obsessive-compulsive about it.
Today, she’s a genetic detective and she is regularly asked for help. “I get emails from people literally every day who found out they’re not who they thought they were genetically.”
The questions begin, Moore explained, when clients get their DNA tested and “they come out as a half-sibling to their sibling, who they thought was their full sibling”. In the past few years Moore has helped half a dozen individuals who were abandoned as newborns, some found in dumpsters.
The fact that any one of us can take even the first step in this process – send off a sample and get back roughly a million bits of personal genetic information for about $100 – is extraordinary, and to say that it has gone somewhat unremarked upon is an understatement. The personal genome revolution grew out of the Human Genome Project (HGP), a multi-milliondollar endeavour in which hundreds of scientists participated, but ironically the fact that so few people know much about their own genome can at least partly be explained by way the project was received.
Although the first draft of the human genome, published in 2001, was issued with much fanfare, it was followed by years of deflating expectations and cynical commentary, most of which can be summed up like this: it was supposed to change everything but it changed nothing! The legacy was a deep scepticism among scientists about the value of genomic research, an attitude not helped by the media’s tendency to announce that the gene for something – red hair, or personality or intelligence – had been found. At the same time, the genome was not embraced much by the humanities, which had always been suspicious about attempts to find connections between an individual’s identity or traits and their biology.
Yet despite the fact that the first draft of the human genome was not something that could be immediately acted upon, the future has crept up on us anyway. Now as individuals, as well as a culture, we can access huge amounts of knowledge from the genome, some of it previously unimaginable. In addition to digging up our family’s recent and distant past, the genome can teach us about the long-ago past of our species, the movements of populations, the choices made by ancestors and our own possible futures as well. The personal and cultural enlightenment on offer is tremendous, but it doesn’t come for free. With large data come large responsibilities, too.
How can we sensibly manage this unprecedented amount of personal data? If we are not going to make the same mistake as the HGP, we must humbly acknowledge that we are at the beginning of the personal genome revolution and the answer is not yet clear. But even though there is no obvious and comforting path to follow, we’ll never find it if we don’t learn a few new, but basic, principles about our genomic selves. For example, we can’t hope to protect our data if we don’t know how the genome gets broken apart and shuffled over generations, how it connects us all in a great big network and what we can learn from those connections. In addition, when it comes to the genome, it’s important to know that many of the individual gains come via the collective.
Moore typically finds families by using genetic genealogy databases to identify distant cousins with the segments of DNA that people have in common. Then she tracks back through the family histories of the cousins to find a common ancestor among them. After that she works her way down again from the common ancestor, looking for an individual’s parents.
“You build the tree up and then you build the tree down,” she told me. Sometimes she has found a direct match, where it is quite obvious from the amount of DNA that two people have in common across many chromosomes that they are siblings or parent and child.
Twenty years ago, there was no way to identify many of the people Moore helps. Family relationships could be proved by comparing the DNA of two people, a father, say, and his illegitimate child, but it’s a wholly new thing to be able to send off a sample of DNA to a genetic genealogy company and have it matched against the samples sent in by complete strangers.
Moore’s approach is not just a clever way of helping people repair some of the information gaps in their lives, it underscores the fact that new information is created when a lot of people put their genomes together. For Moore’s clients, it allows them to work around governments that deny them basic information about themselves.
In Australia, because government archives are underfunded and unsupported, many wards of the state who grew up in the orphanages of the 20th century struggle to find out basic facts about themselves, like who their parents were. In the US, many adoptees are not even legally allowed to be told who their parents were.
Such discoveries would not be possible without the modern marriage of science and business; individuals can look at their genomes only because companies can profit by making everyone’s data available for matching. There is an inevitable tension here. It is entirely reasonable for businesses to make a profit, and it’s also sensible for their clients to worry about whose interests they have at heart. Because these are pioneering days in the business, as well as the science, of the genome, it’s essential to consider the privacy issues that can arise.
In 2010 I had my DNA analysed by the Icelandic company deCODEme, the first company to offer an in-depth personal DNA analysis over the web. In 2013 deCODEme’s parent company was taken over by one of the world’s biggest biopharmaceutical companies, but I received no information about the change of their service or their new owners. Do they still have my data? I don’t know. And if they do, what will happen to it in a few years, in 10 years, in 100 years?
Most of the big genetic genealogy companies take privacy seriously, but different companies make different commitments to their users. It is sensible to read the fine print before sending in a sample. It’s also important to consider that no matter what is said now, while any company can be shut down, your DNA sample may live on and it will point to you forever.