Britain Plans a Genetic Census

How do nature and nurture combine to cause diseases?

adapted from an article by Gwen Kinkead, The New York Times, Thursday, January 2, 2003

Note: Projects like this one are being proposed in many countries, including the U.S. The potential for learning is vast; the ethical concerns of such a project are enormous. For example, the U.S. Department of Defense maintains a DNA tissue bank of all military personnel -- for identification of remains, if necessary. There have been several requests to use this DNA bank for criminal investigations: rapes, the Washington sniper, etc. These requests have often, but not always, been blocked. Who should have access to DNA information, and for what?

In 2003, Britain plans to undertake the world’s most ambitious study of the origins of disease. Looking forward to the day when people will know their genetic makeups and request a precise picture of their risks of developing various diseases, the study organizers plan to assemble a database of medical information about 500,000 Britons, including their DNA.

The goal is to sort out over the next 10 to 20 years the way that genes and the environment combine to cause common diseases.

A few countries -- including Estonia, Sweden and Latvia--are considering similar databases, in essence genetic censuses. Iceland, the pioneer, has collected medical data and DNA samples from 80,000 related people to hunt genes that touch off disease.

It will also develop a national database from patient records in its health care system. DNA-based diagnostics and drugs could result from the effort.

Britain’s will be the largest of the databases proposed by governments or their private partners. It has the same goals as Iceland’s but with a critical difference: It will try to quantify for the first time the roles of genes and such environmental influences as smoking, alcohol, viruses, pollution, exercise and diet in unrelated people for all common diseases. Studying a huge selection of diverse people could make its discoveries applicable worldwide. Iceland’s population, by contrast, is extraordinarily homogenous.

If the $120 million project, called U.K. Biobank, goes forward, and enough people volunteer for pilot studies, 1.2 million healthy Britons from 45 to 69 will give blood samples to the Biobank. From their blood, DNA will be purified and frozen. Ninety percent of the donors will be white. The rest will roughly reflect Britain’s demographics. From these, 500,000 will be chosen for the project by 2008.

When they sign up, volunteers will get brief health examinations and will answer 10-page questionnaires about their socioeconomic and psychological status, reproductive history, exercise, cell phone use and beverage preferences. They will note their diets for a week.

For 10 years, they will be followed through their national health care records, which will be copied into the Biobank. The data will be anonymous, but not completely, to allow for updates by doctors or new questionnaires. By 2014, 40,175 are expected to fall ill with diabetes, heart disease, stroke or cancer, and 6,200 are expected to have Parkinson’s disease, dementia, rheumatoid arthritis or hip fractures.

The DNA of these people will be read and compared, and any normal gene variants, the one-nucleotide differences in DNA that make one person’s biology different from another’s, will be tagged for study. "Then you will be able to see patterns: X number have this sort of genetic makeup and this kind of lifestyle, and Y has that, and you can start analyzing, if you like, the nature-nurture, environment-genes secret," said George Radda, a molecular cardiologist who heads the Medical Research Council, a sponsor of the Biobank.

So far, opposition has been muted and polite. But a significant minority of British doctors oppose the project as unnecessary and too costly.

American geneticists are also split on the value of huge medical and DNA databases. Some argue that existing ones, like the Framingham Heart Study, which is gathering DNA from descendants of its original subjects, are enough. Others question their design.

David Altshuler, a geneticist at the Whitehead/MIT Center for Genome Research and Harvard Medical School, said: "I am not sure that a one-size-fits-all gene bank is what we want, but it is absolutely necessary to do prospective population studies if we are going to give any valuable information to the average patient who walks into their doctor and says, ‘Does this genetic discovery I read about in the paper apply to me?’ or ‘What does it mean if I have a certain gene variant?’"

Health officials in the United States are beginning to discuss a large database for research. Smaller databases, gathering DNA from volunteers, are being started by the Mayo Clinic, among others.

Some people worry that they will be exploited and their privacy invaded. Critics are asking that it be suspended, saying it has yet to answer crucial questions about access by the courts and pharmaceutical companies and the type of studies that will be allowed.

Biobank backers are consulting with ethicists, doctors, scientists, drug companies and the public before issuing final plans. That, they hope, will rally Britain around the plan and prevent the outrage that greeted Iceland’s database and doomed another in Tonga.