Washington

The chief of the National Human Genome Research Institute has warned against a move to require human geneticists to obtain informed consent from family members, as well as primary subjects, when they solicit people's family histories.

Francis Collins has challenged a recent interpretation of government rules by the Office for Protection from Research Risks (OPRR). It said that when researchers obtain private, identifiable information about individuals — whether primary subjects or their family members — those individuals become by definition human subjects, and their informed consent must therefore be sought for participation.

According to Collins, this “could render a large proportion of current research in human genetics impracticable — with highly detrimental consequences to ultimate public benefit”.

The case in question involves a twin study at Virginia Commonwealth University, where the OPRR shut down federally funded research in December, citing numerous deficiencies in human subjects' protection. (The research is now being resumed.)

OPRR's investigation at the university was prompted by a complaint from Richard Curtin, a budget analyst at the US Department of Defense who is the father of college-age twins. One of them received a mailed questionnaire from Linda Corey, a professor of human genetics at the university, that solicited information for the Mid-Atlantic Twin Registry, a 20-year-old registry of 30,000 twin pairs used by medical researchers. The questionnaire asked about the occurrence of hundreds of medical conditions, including abnormal genitalia, alcoholism and infertility, in the twin and family members.

It was “a total invasion” of privacy, says Curtin, who adds that his security clearance at the Department of Defense could be revoked if he suffered from conditions such as mental illness.

“It appears that the [university ethics board] failed to consider the potential social, psychological, and legal risks” presented to twin subjects' family members by the collection of their detailed medical and social information without consent, OPRR wrote to university officials.

But in a letter in January, Collins told OPRR director Gary Ellis that he considered the presumption of risk to family members was unreasonable. “The OPRR's [position] represents a new policy that does not appear to have been informed by broad scientific or public input,” he charged, adding that he has “deep concerns” about the decision.

Ellis, in a response to Collins on 22 February, said that OPRR had simply applied existing human subject protection regulations to a particular case, and not implemented a new policy or imposed new general rules.

“Please do not infer any general rule-making by OPRR regarding informed consent from family members beyond the specifics of this particular research activity,” said Ellis.

The American Society of Human Genetics (ASHG) and the National Institute for Child Health and Human Development have both contacted Ellis on the matter.

“We are very concerned about the fact that the collection of family history, which is a very important part of human genetics research, could be inhibited by too much control,” says Uta Francke, the previous president of ASHG and a professor of genetics at Stanford University.