Everett’s story screening results and for two years after abnormal results in order to provide ongoing assessment and improvement of the screening process. Leftover dried blood spots can be used for: • Quality assurance • Test improvement and development • Further testing for the child or family • Public health studies
Everett Olson’s mom, Korissa, remembers looking at Everett when he was born and seeing an apparently healthy baby. Because he seemed healthy, Korissa declined newborn screening. Only after hospital nurses discussed the importance of testing did she agree to have Everett tested. Four days later, the Olsons were told by their pediatrician that Everett’s newborn screening had detected galactosemia. Children with galactosemia are unable to break down naturally occurring sugar in milk, so dangerous levels of this sugar accumulate in their blood. Without prompt treatment they develop brain damage, mental retardation, cataracts, liver failure, and infections, and can die young. Although Everett seemed fine during his first few days of life, he soon showed symptoms of galactosemia. Because of newborn screening, his disease was diagnosed quickly, appropriate treatment was started right away, and today Everett is a happy, healthy fouryear-old. View his story at www.youtube.com/watch?v=Q7oEz6pmhPA&feature=youtube
Quality assurance activities that monitor testing accuracy could not be done without using leftover dried blood spots. This is not considered research, and is mandated by federal regulations covering all clinical laboratories. Improving existing tests and developing tests for disorders not currently on the screening panel are integral to the program. An individual’s blood during the newborn period is very different from blood in adults and older children. Newborn blood contains constituents that disappear as a child ages, and therefore cannot be detected during childhood or adulthood. As a result, developing tests for newborn screening can only be done using blood from newborns. If dried blood spots had not been previously available to newborn screening programs, Minnesota infants would be screened today for only PKU rather than for 53 additional treatable diseases. Families occasionally contact MDH in an effort to understand why their child developed a medical disorder. For example, the family of a child with hearing loss might ask for their child’s blood spot so that doctors can determine if the hearing loss was caused by an infection at birth. In cases like this, the dried blood spot is the only sample available that can answer this question. Dried blood spots may also be used to help identify a missing or deceased child. Public health researchers sometimes contact MDH in an effort to learn more about public health. Some study environmental exposures; others, congenital infections not obvious at birth. While leftover blood spots are kept for a short time and are available for quality assurance and process improvement during that Newborns in time, they are not made available for Minnesota are development of new testing, further health testing for the child, or screened for research to benefit the public health 54 medical without informed consent from the disorders. parents. Parents who want to have their child’s dried blood spots and screening results saved at the MDH beyond the standard 71 days (for normal spots) or two years (abnormal spots) can sign the consent form at: www.health.state.mn.us/newbornscreening/docs/storage_use.pdf Signing this form allows storage and use of the dried blood spots until the child is 18; parents can revoke consent at any time. Dried blood spots are used anonymously and MDH never uses all of a child’s dried blood spot; some sample remains available should the family need it. While newborn screening has expanded beyond the days of PKU testing, its mission remains the same: to find newborns with treatable diseases as early as possible in order to give them the best chance at a healthy life. Minnesota’s health care professionals and
the Newborn Screening Program cannot accomplish this mission without support. Parents now have an opportunity, by completing and submitting the consent form, to help improve and expand newborn screening. This will benefit not only their own children, but future generations of Minnesotans. Amy Gaviglio, MS, CGC, certified genetic counselor, supervises the Shortterm Follow-up unit of the MDH Newborn Screening Program. Beth-Ann Bloom MS, CGC, and Sondra Rosendahl MS, CGC, are certified genetic counselors with the MDH Newborn Screening Program.
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MARCH 2013 MINNESOTA HEALTH CARE NEWS
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