Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.

Nearly all infants in the United States undergo a heel prick within days of birth for a simple blood test to detect rare genetic disorders. For decades, state-based mandatory newborn screening programs have focused on disorders such as phenylketonuria (PKU) or hypothyroidism in which a prompt diagnosis and treatment could prevent disability or even death.

In recent years, advocacy groups have been pushing to expand newborn screening to include lysosomal storage diseases (LSDs), a group of rare metabolic disorders, despite the lack of consensus on which children should be treated or the effectiveness of available therapies. With the high degree of uncertainty around LSDs, many medical ethicists as well as some genetic health professionals and public health officials are questioning the clinical value and the morality of screening mandates.

In an article published by The Journal of Pediatrics, researchers from the University of Chicago Medicine argue that parents should be critical stakeholders in the expansion of newborn screening. Despite federal recommendations against the addition of these conditions, LSDs have been tacked on to the screening panels in several states and strong lobby efforts are under way across the nation with little or no consideration for parental consent or even notification.

“A problem with incorporating LSD screening into state screening programs is the ‘all-or-nothing’ constraint,” said co-author Lainie Friedman Ross, MD, PhD, professor of pediatrics, medicine and surgery, and assistant director of the MacLean Center for Clinical Medical Ethics at the University of Chicago. “Parents cannot say that they want their child to be tested for some conditions and not others. There is simply not enough available information on many LSDs to justify overriding the ethical standard of parental informed consent.”

The push for more widespread screening for once little-known diseases is largely the result of impassioned campaigns led by parents of children affected by these conditions. Among the most notable advocates is former Buffalo Bills quarterback Jim Kelly, whose son died of complications from Krabbe disease, a rare genetic disorder of the nervous system. In 2006, Kelly successfully lobbied the New York State Department of Health for the inclusion of Krabbe disease in its mandatory newborn screening program. Since then Missouri and New Mexico have passed legislation to screen for a broader array of LSDs.

Similarly, in Illinois, seven LSDs have been mandated to the newborn screening program due to the efforts of the Evanosky Foundation, formed by parents of three children diagnosed with metachromatic leukodystrophy (MLD).

Ross says that while such stories are heartbreaking, this trend is worrisome because arguments from parent advocacy groups tend to be based on anecdotal experience rather than scientific, peer-reviewed evidence and they represent only one side of the coin.

“There are many parents whose voices are not being heard: parents who have experienced the distress of a false positive or who have children identified with conditions that may not present until adulthood, if ever,” Ross said. “There are also parent advocacy groups around the country worried that their children’s blood spots are being used for research without their permission, even without their awareness.”

Another concern for ethicists is the funding advocacy groups often receive from pharmaceutical companies that have a vested interest in the promotion of treatments for the disorders the group represents. Studies have confirmed that many of these groups fail to disclose conflicts of interest on their websites, promotional brochures and lobbying activities.

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