Your Genome Belongs To You – Health Affairs Blog

“Just four years ago, only two people in the world had their genome sequenced:  James D. Watson (co-discoverer of the structure of DNA) and J. Craig Venter (former President of the firm that mounted a private-sector rival to the Human Genome Project).  There are now many thousands of such people.  At genome meetings, scientists are talking about millions of fully sequenced genomes in coming years.  And after that…? It cost roughly a billion dollars to generate the first reference human genome in 2003; last year a company would charge $10,000 for this service.  This year it costs a few thousand dollars. And in a few years we should be able to get our genomes sequenced for a few hundred dollars. At some point, our genomic information will get cheap enough for most of us to take the plunge and ‘get our genomes done...’ But there is a catch.  We need access to the data... the value of ... individual genome information is limited.  Deriving meaning from genomic data depends entirely on other people sharing their information too, and doing so in a way that links it to information about their health, their relatives, their diet and exercise, and their social and physical environment. Some genomic pioneers are sharing their entire sequences on the Internet.  Yet what our genomes reveal might return to haunt us later, and more to the point, our families.  Some of us won’t want everyone knowing our risk of cancer or Alzheimer’s disease, or worse, guessing our kids’ health risks.  Yet we’d like researchers to be able to study the data without harm coming to us...  Unless many, many people share data revealing their risk of cancer or Alzheimer’s disease, and opt into ancestry databases, there will be no way to interpret ours. We want others to use our information, so long as they take reasonable care of it and do not share it in ways that harm us or our relatives.  But we damn sure want to be able to participate in research, contribute data to a doctor or genetic counselor, and study our personal and family history without asking permission or getting someone else to share our data... By the time most Americans get around to having their genomes sequenced, the choice of how to manage personal genomic data may be well out of our hands.  This is not because of deliberate policy, but inattention... Three key terms are guiding most thinking about genomic data, and sending us down paths we may regret if we stay on them.  Current thinking centers on medical risk, privacy, and ownership, and there are deep problems with how we’re thinking about each of them. Because our genome can indicate vulnerability to certain diseases, current policy is focused on making sure we get that information from trained professionals... Genome sequencing can provide high-impact medical results, but most of the time, it will merely illuminate our genealogy and satisfy our curiosity, and give moderately interesting insights into disease risk. In the continuum of potential results, FDA has a clear role in the medical aspects, but at the other end of the continuum does not have any business blocking us from using a website to find folks we’re related to.  Teasing apart what needs to be regulated from what does not is a work in progress... If regulators impose rules that allow us to obtain genomic data only as a medical service and through a health professional, however, access will never be cheap because it will always be bundled with expensive professional medical services... Your genome should belong to you, but it doesn’t always. Right now, for all intents and purposes, it belongs to the service or research institution that produces your sequence data.  They may store your genomic information, and interpret it for you, but they have no obligation to provide you with the raw data in a form you can share with others. That will change only if we collectively insist on it, and if we make sure that genome sequencing services adhere to standards and formats that will make our right to our genomic data meaningful. Genome data need to be interoperable... If we act now to recognize a right of access to our genomic data, the emergent services can easily accommodate it as they grow; yet failure to establish such practices from the get-go will mean we do not have access to our own genomic data. The policy debate will focus on the institutions that have the data.  Power and choice should remain in the hands of the people the data came from and should belong to, not the institutions that store and control it.”