8-Humans: To study disease, Britain plans a genetic census

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TITLE:  To Study Disease, Britain Plans a Genetic Census
SOURCE: The New York Times, USA, by Gwen Kinead
        http://www.nytimes.com/2002/12/31/health/genetics/31GENE.html?
        pagewanted=print&position=top
DATE:   Dec 31, 2002

------------------ archive: http://www.gene.ch/genet.html ------------------


To Study Disease, Britain Plans a Genetic Census

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

At least six countries are preparing similar databases, in essence genetic 
censuses, or have already established them. 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: for the first time, it will try to quantify the roles 
of genes and environmental influences like 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 
homogeneous.

If the USD 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, cellphone 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. Another 6,200 are expected to have Parkinson's, 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 
Sir George Radda, the 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.

Dr. David Altshuler, a geneticist at the Whitehead/M.I.T. 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, said Dr. Lisa Brooks, a spokeswoman for the National 
Genome Research Institute at the National Institutes of Health. Smaller 
databases, gathering DNA from volunteers, are being started by the Mayo 
Clinic, among others.

Four years in the making, Biobank is financed by the government and the 
pillars of Britain's scientific establishment Ñ the Wellcome Trust, a USD 
20 billion charity that dominates biomedical research, and the Medical 
Research Council, which awards science grants. Still, it is creeping to a 
start because of the ethical issues it poses.

The nation's health secretary, Alan Milburn, calls it a "flagship project 
on molecular epidemiology for the new century." But others are considerably 
less optimistic.

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

"We would like to see it shelved until safeguards are added," said Dr. 
Helen Wallace, deputy director of GeneWatch U.K., a public interest group 
concerned about genetic research. The government has rejected GeneWatch's 
request for an independent review of Biobank's value.

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

Biobank is to be ready for study in 2014. At the touch of a few computer 
keys, international researchers should be able to tap into its storehouse 
to see what genetic variants exist in Britain's population and how Britons' 
patterns of everyday life affect their risk for disease.

The researchers say their project will focus on the way genes interact with 
one another and with environmental influences to alter genetic 
susceptibility to disease. The task of searching for disease genes is 
expected to be performed by the Iceland project and its rivals.

Major diseases like heart disease and cancer are well known to have many 
causes and to involve cascades of interactions among many genes.

Sir George of the Medical Research Council said he hoped that in several 
decades doctors would be able to tell a patient with a particular genetic 
mutation and habits that his risk of stroke was, say, 40 percent.

Conclusions like this could emerge from clusters of volunteers with common 
traits. Researchers might cull smokers with ischemic heart disease to test 
the hypothesis that smoking elevates the disease risk by affecting the 
variants of certain key genes.

Cancer and heart disease are "the first two where we will begin to get some 
useful information," Sir George said, information that doctors could use to 
persuade patients to change their diets or behavior, or to take a drug, to 
lower their risk.

Biobank, which is expected to choose its chief executive soon, will be 
owned by a charity controlled by the British government, the Wellcome Trust 
and the Medical Research Council.

The need for public ownership was a lesson learned from Iceland. There, the 
parliament's decision to allow a commercial company to create its database 
and use anonymous patients' records without their consent created a furor.

Five years ago, evaluating the respective contributions of genes and 
environment to common diseases was impossible. Only in the last year or two 
have researchers begun to find some genetic mutations involved.

The recent progress and the prospect of cheaply reading an individual's 
genome on superfast machinery by 2014, make this kind of immense study 
feasible.

Still, some researchers doubt that Biobank will succeed. Last year in The 
Lancet, a medical journal based in Britain, David Clayton at Cambridge and 
Prof. Paul McKeigue at the London School of Hygiene and Tropical Medicine 
argued that its design was flawed.

The objectives of Wellcome and the Medical Research Council could be 
achieved more quickly and cheaply by laying down a bank of anonymous DNA 
samples from a few thousand cases of each disease, Professor McKeigue said. 
"U.K. Biobank will take more than l5 years to achieve its targets," he 
added.

Certainly, its success hinges on the accuracy of doctors' diagnoses, which 
can be tricky in heart disease and asthma, among others.

Biobank is a gamble, said Sir David Weatherall, a geneticist at Oxford, who 
was also the lead author of a World Health Organization report on genomics 
and world health. Issued in the spring, the report included a warning of a 
worldwide controversy over the desirability of big medical and DNA 
databases.

He cautioned that mistakes in diagnoses could send researchers after the 
wrong genes, and ultimately, the wrong medicines.

Biobank believes it can minimize the risk by having its research nurses 
check doctors' diagnoses but not re-examine patients.

Dr. Christopher O'Donnell, the associate director of the Framingham Heart 
Study, the gold standard in epidemiology in the United States, cautioned 
that even a 10 percent to 20 percent error rate in classification of 
disease could corrupt outcomes.

Dr. Vivienne Nathanson of the British Medical Association, said, "We give 
it a cautious welcome."

"The caution around it is simply that we do make sure we have proper public 
buy-in," Dr. Nathanson added. "DNA will give very powerful amounts of 
information about individuals." Generally, she said, the public is greatly 
reluctant to give too much information to the government "to use as they 
will."

Dr. Mike Dexter, director of the Wellcome Trust, said, "The insurance 
companies wouldn't be allowed access to any individual's data, the police 
wouldn't, of course, unless there is a major court order and so on."

But the ambiguity over any sort of court order issued to the database is 
worrisome, Dr. Nathanson said.

Before recruitment of volunteers can start, the project must pass an ethics 
review by the National Health Service.

An oversight body is planned with veto power over access and ethics.

"The public consultations held so far have all been positive, said Lord 
Hunt of King's Heath, the parliamentary under secretary of state for 
health, "but it is still too early to tell how widespread this feeling is 
amongst the broader general public and medical profession."



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