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The newly appointed head of the US Human Genome Project last week warned
of an ‘urgent need’ to prepare for mass screening for genetic diseases.
Francis Collins of the University of Michigan, who was a co-discoverer of
the cystic fibrosis gene, told a working group on genetics that if it was
not ‘very forward looking’, society could be caught off guard by the rapid
pace of progress.

Collins wants to avoid repetition of the confusion that followed the
discovery in 1989 of the cystic fibrosis gene. Only people with two copies
of the gene have the disease, but it became possible to detect three-quarters
of the carriers of the gene who have only one copy. Inadequate medical and
counselling resources could not cope with mass screening. Medical societies
added to the confusion by recommending against screening until a higher
percentage of carriers could be detected.

The working group on ethical, legal and social implications of genome
research, which Collins was addressing, is funded by the National Institutes
of Health and the Department of Energy. The group has set up pilot screening
programmes for cystic fibrosis, and in its first three years it has spent
about $10 million on research into issues that surround testing, such as
its psychological impact and who should have access to the results.

Collins urged the group to prepare now for the social consequences of
finding the gene on chromosome 17 that has been linked to the early onset
of breast cancer. Women who carry the gene have about an 85 per cent chance
of developing the disease. Mary-Claire King of the University of California
at Berkeley is working with Collins to locate the gene. He expects to pinpoint
it within the year. ‘The pressure to make the test available will be intense,’
said Collins. ‘Breast cancer is a virtual epidemic. We must not get caught
in a situation like we are with cystic fibrosis.