Counseling highlighted for gene test.

In April, a panel convened by the National Institutes of Health recommended wider use of a DNA test for the defective gene responsible for cystic fibrosis (SN: 4/26/97, p. 253). Subsequently, in response to concerns about the difficulty of ensuring that people are sufficiently informed about the disease and the test, given the shortage of qualified counselors and resources, the panelists made a small, but significant, addition to the statement. The final version, now available online and slated for publication this fall, emphasizes that genetic testing should "be phased in over a period of time to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons tested."

The original statement broke new ground in its recommendation that the DNA test for the cystic fibrosis gene be offered to couples expecting a child or contemplating pregnancy, even if they do not have a family history of the disease. For people of northern European descent, according to NIH, 1 out of 29 carries a copy of the defective gene. The test picks up most carriers of the defective gene in this group. Two carriers have a one-in-four chance of giving birth to an affected child.

By advising that testing be phased in rather than offered immediately, the change should alleviate concerns that the tests might be administered without giving individuals the information necessary to understand results, says panel chair R. Rodney Howell of the University of Miami School of Medicine. "I think it improves the document," he says.

"It was a very important omission [from the original] and a very important correction," says bioethicist Norman Fost of the University of Wisconsin-Madison. "What the document now says is that [testing] is a goal to which we ought to aspire ... but we can't just do it on Monday morning."

For the 4 million women who become pregnant in the United States each year, Fost estimates that there are fewer than 2,000 health care providers in the United States qualified to offer genetic counseling. Cystic fibrosis carrier testing could require an hour or more of counseling, according to the panel.