Nine diseases have been nominated to an HHS advisory committee as possible additions to newborn screening programs. Only two have won the committee’s approval.
But R. Rodney Howell, the chair of the committee, tells the Health Blog that he’d like to see at least one of the conditions that was initially turned down be re-nominated: Pompe disease, a rare genetic disorder involving a missing or insufficient enzyme. Pompe can lead to severe heart and muscle damage and in some cases is fatal.
The disease “should be on the (newborn screening) panel,” Howell says, adding that his opinions are his own and do not necessarily reflect the views of the entire committee.
Still, Howell’s high profile in the world of newborn screening — in addition to chairing the advisory committee, he speaks widely about newborn screening and is also a professor of pediatrics and chair emeritus at the University of Miami — means his words carry weight.
As the WSJ reports today, the heel-prick blood test that babies receive within days of birth can give parents more information than ever before about the risk for a number of diseases. Every state decides for itself which diseases it will screen for, but the head of HHS makes recommendations. Currently, there are 30 core conditions for which HHS believes all babies should be screened.
When the HHS advisory committee refused to recommend Pompe in 2008, Howell was the one who signed the letter giving the bad news to Priya Kishnani, the chief of pediatric medical genetics at Duke University who nominated the disease for inclusion on the HHS list.
In the letter, Howell said the committee’s concerns included worries that the newborn screening test for Pompe seemed to have a relatively high false-positive rate. In addition, since in some cases the disease doesn’t appear until adulthood, the committee requested more data on how to better distinguish babies with the aggressive, early-onset form of the disease, who require immediate treatment, from those who can instead be monitored over time. The committee also requested that a pilot study be set up in the U.S. to try to answer these questions.
Howell says the group is rigorous when it comes to assessing diseases nominated to the newborn screening panel and takes into account the perspectives of the families of children with the disease, doctors, and scientists. It also reviews published and unpublished scientific data.
Kishnani tells the Health Blog that one reason she initially nominated Pompe is that in infants with the aggressive form of the disease, “even a week makes a difference in the outcome.”
She says she was frustrated by the committee’s decision but has been working towards addressing their concerns. One key stumbling block was getting U.S. data. She said Illinois is slated to become the first state to begin state-wide newborn screening for Pompe in 2012, “but it’s going to take some time to get results.”
Michael Watson, who heads an NIH-funded Newborn Screening Translational Research Network, says the group is already working with investigators in a number of states interested in screening for five rare metabolic diseases, including Pompe, to generate the kind of data requested by the advisory committee.
Missouri and New Mexico have also passed legislation to screen for Pompe, says Brad Therrell, director of the National Newborn Screening and Genetics Resource Center.
Kishnani may not have to wait. Howell says there is now sufficient screening data from a program in Taiwan, and that new methods have been developed to help distinguish babies who need immediate treatment from those who should be monitored. “The questions present when Pompe was initially reviewed currently have answers,” Howell says. “The Pompe community should re-nominate.”
Reported by Amy Dockser Marcus