Minnesota babies give up a few drops of blood so that doctors and scientists can gain a world of knowledge about their health. With this knowledge, says Susan Berry, a researcher and pediatrician who practices at University of Minnesota Children’s Hospital, Fairview, “I am certain that we are saving the lives of [some of ] these children.” She’s referring to those diagnosed with rare metabolic diseases that make it difficult for their bodies to process proteins, fat, or other essential substances.
Along with helping individual children, screening is important for public health, Berry says. And it has implications for the future: with this data, she and other experts can learn more about these diseases, from their genetic blueprint to their progress through infancy into adulthood. To meet these patients’ lifelong needs, Berry also plans to train more doctors to treat and to manage these rare metabolic diseases.
Realizing this project and capturing its benefits requires partnerships, Berry says. The University of Minnesota, the state Department of Health, and the Mayo Clinic collaborate on the screening in Minnesota.
In addition, Minnesota has joined with six other states in the Region 4 Genetics Collaborative that aims to share best practices and up-to-date knowledge about babies born with metabolic problems, reduce inequities in access to clinical genetic services, and improve the public health infrastructure for diagnosis, follow-up, and disease management for these children.
Starting with a pilot in 2001, an advance in testing technology permitted screening of Minnesota’s newborns to be expanded from a handful of diseases to more than 40. Individually all of the conditions are rare, but collectively they have a big impact, says Berry, who is senior clinical advisor for the newborn screening program. Around 25-30 cases occur among the some 70,000 babies born annually in Minnesota and, now that they are identified, those children can be treated earlier.
“We call it the iceberg effect,” Berry says. “In the old days, we saw the kids who got sick but we were not seeing the affected children who had not yet become ill from their condition that were at tremendous risk for serious symptoms.”
The testing begins with pricking a newborn’s heel and sending the collected blood first to the Department of Health labs. After that, the samples are sent to Mayo, which contracts with the state of Minnesota as a public health laboratory for this newborn screening. Mayo has advanced testing technology, called tandem mass spectrometry, that is a tremendously powerful way to evaluate for many diseases in a single blood spot. They have refined the testing to avoid most of the misleading results called “false positives,” when a child initially appears to have a disease on screening but actually does not.
The parents of those children who do have metabolic diseases usually are contacted first by their regular doctor and, if necessary, referred to specialty physicians such as Berry. In the past few years, she says the number of newborn screening patients seen by her multidisciplinary team has increased from a couple a month to two or three a week. Many of the patients can be treated relatively simply by using special formulas, although they are available only by prescription.
Screening can reveal facts about the rest of the family, too. One child was found to have a rare metabolic disorder, Berry says, and then his older siblings were tested. They all had it. With genetic diseases, brothers, sisters, moms and dads – and sometimes, other relatives – might also need to be tested.
“Genetic conditions,” says Berry, “are always a family affair.”