Problems with Protecting Privacy

Scientific research often bumps into ethical concerns. Some conflicts come easily to mind: weapons development, for example, can test the judgment of right and wrong for both participating scientists and the public that pays for their studies. Others simply come as a surprise.

Science magazine recently reported on one of these surprises. It's a problem some French medical researchers have been wrestling with for more than three years.

Early in 1988, demographer Andre Chaventre assembled a team of researchers to study family patterns of manic depressive mental illness. This disease seems to have a genetic component, and the scientists aimed to decipher the nature of its heritability.

As they began amassing family histories and medical reports on manic-depressive patients, they came across a still-unexplained statistical link between the mental illness and another disease. A certain form of serious eye trouble, open-angle glaucoma, often appeared in families with manic depressives. The glaucoma usually attacks children, gradually affecting their vision so they notice nothing wrong until most of their optic nerve fibers are irreversibly damaged.

Searching the scientific literature on childhood glaucoma, Chaventre found a 1979 medical thesis that reported a concentration of cases in northwestern France. Recognizing a familial pattern in the thesis data, Chaventre contacted ophthalmologists in the region and set up procedures to trace the genealogy of manic depression and glaucoma.

Thanks to the meticulous records kept by every French village and to the capabilities of modern computers, the research team back-tracked the genetic flaw to an ancestral couple. They lived in Brittany about 500 years ago; both died in 1495. (As if in confirmation of the computer work, the team learned that a main tourist attraction in a nearby village is a cistem containing water reputed to cure blindness.)

They also found that more than half of all juvenile glaucoma cases reported in France occurred in that direct lineage. It's a prolific lineage, too; the team uncovered records of affected couples who produced up to 18 children. Some 30,000 direct descendants of that 15th century couple are alive in France today.

The researchers realized that their computer files held information of immediate practical value to many of those 30,000 people. Untreated, the form of glaucoma so prevalent in their family tree leads surely to blindness. Caught early and treated properly, open-angle glaucoma can be arrested. Chaventre's team decided to notify physicians throughout France about members of this family living in their area. The physicians would be more likely to spot the disease at an earlier stage if they were forewarned; vision possibly could be saved for hundreds of people.

This saving, however, came at too high a cost to suit one French national agency. The Commission Nationale d'Informatique et des Libertes (CNIL) had to be consulted about the plan, and the commission would not accept it. CNIL exists to protect individuals from the abuses possible in an age of computers. It found abuse easily possible here, disseminating the names of people who potentially bear a genetic disease might lead to trouble for them getting work, in obtaining insurance, and in other areas. CNIL ruled that the researchers could only alert physicians to the symptoms and hereditary nature of the disease, but could not name names.

And there the matter stands. CNIL is right; some of these potentially afflicted people would face serious discrimination if their names were known. Notifying them directly of their danger would also be unethical. (How well could anyone deal with a letter on the order of, "Dear Sir or Madam, You may have a faulty gene that can cause madness or blindness or both..."?) Yet the researchers are also right; ignorance will cause blindness.

Ethical behavior has never been easy; in an era of data banks and genetic maps, it seems to be getting harder all the time.