Parents on Both Sides of the Fence
Since newborn screening began in the 1960s, parent advocacy groups have played a pivotal role in its expansion. As technology has become available to detect additional diseases, they've lobbied state legislators and health commissioners to include new screens. They pushed, for instance, to get cystic fibrosis added to California's screening panel, which now tests for 76 disorders and is one of the country's most comprehensive. "Many of the parents who have worked the hardest to draw attention to a particular condition had already lost a child to that disease, but they didn't want other families to have to go through the same heartbreak," says Catherine Camacho, deputy director of California's Department of Health.
However, other parents feel just as strongly about limiting universal screening. In Minnesota, the Citizens' Council on Health Care has suggested that newborn screening may represent "the new eugenics," and lobbied the legislature to require that parents sign informed consent papers before the test is done. "We want parents to decide whether they want the state to have genetic information about their child," says Twila Brase, a nurse and president of the organization. The group has also pushed to get the state to destroy the cards with babies' blood spots after screening is done. It claims that "government warehousing" and sharing of newborn blood samples with researchers makes citizens "involuntary subjects of genetic research" and poses the possibility that a genetic flaw, even one not detectable by today's technology, could be used in the future by a company to deny an individual health insurance. A group of parents has also filed a lawsuit against the Minnesota Department of Health claiming that the storage of blood spots violates the state's Genetic Information Law. Although it was dismissed last November, at press time the parents were preparing an appeal. A similar suit was filed in Texas, where a group of parents claimed that it was unconstitutional for the state health department and Texas A & M University to store babies' blood spots and provide them to researchers without getting parents' explicit consent.
State health departments, already sensitive to patient privacy issues, have been quick to point out that blood spots are kept under lock and key. Most specimens are securely stored with only basic demographic information about the mother and child included with them. "These stored blood spots are invaluable because we can seek parental permission to use them to develop tests for new diseases," says Piero Rinaldo, M.D., Ph.D., a pediatrician and geneticist at the Mayo Clinic, in Rochester, Minnesota, who's one of the leading experts developing the technology to screen for metabolic disorders. Recently, his team used an 18-year-old blood sample to verify a new test for Wilson's disease, a rare genetic condition in which too much copper is absorbed in the liver. It can be symptomless in infancy but is always fatal when it appears out of the blue in adolescence. However, if a child with Wilson's disease is diagnosed at birth, she can take medicine to limit copper absorption and avoid eating copper-rich foods.
If states pass restrictive laws, health officials are worried that this kind of important medical research will be jeopardized and screening programs themselves may be threatened. "When you require informed consent as opposed to an opt-out, fewer babies are going to get screened and then we will risk losing children," says McCann. Right now, Nebraska is the only state where screening is absolutely mandatory; if parents refuse to participate, health officials come to their house to ensure screening takes place. Dissenters have sued, and the case has gone to the state's Supreme Court, but the law has been upheld.
Experts are also concerned that the publicity surrounding these cases will cause more parents -- even health-conscious ones like Korissa Olson -- to avoid having their children screened. Since the lawsuit was filed in Texas, a small number of parents have asked to have their baby's blood-spot cards destroyed, and the state honored these requests. In California, the number of parents who have opted out of screening in the last year has risen slightly, and so has the number of parents who have requested that their baby's specimen be destroyed. Approximately 600 families in the state now refuse screening each year. While that is only a small fraction of the annual 560,000 births in California, statistically it's almost enough to miss one child a year who has a serious condition. Just recently, one of the families who refused screening had a newborn with PKU that went undetected -- and as a result, the child now has severe mental retardation.