Newborn Screening Top 10 Challenges

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1 Newborn Screening Top 10 Challenges Celia Kaye, MD, PhD, FAAP Robert A. Saul, MD, FAAP Newborn Screen Positive Infant ACTion Project Learning Session May 21-22, 2010 I have no relevant financial relationships with the manufacturers of any commercial products and/or provider of commercial services discussed in this CME activity. I do not intend to discuss an unapproved/investigative use of a commercial product/device in their presentation.

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3 #1: Consent Since newborn screening began in the 1960s, parent advocacy groups have played a pivotal role in its expansion. (Parents) State health departments, already sensitive to patient privacy issues, have been quick to point out that blood spots are kept under lock and key. (Parents) Informed consent is not required for newborn screening itself.

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5 #2: Establishment of DNA Banks activist groups around the country are frightening expectant parents by waving the red flag about privacy issues (Parents) Why are leftover bloodspots stored? For quality control testing, development of new tests, and research under special circumstances (public health). Many states store dried blood spots for only a short time. In some states that store spots longer, parents can choose not store their child s sample.

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7 #3: Research v. Screening All states except a few permit parents to opt out of newborn screening. Most states have strict IRB requirements and privacy policies for use of dried blood spots for research purposes. Some states are instituting specific consent for research use of dried blood spots.

8 #4: False Positive Results False positive results are common in newborn screening and may be related to time of year, specimen testing procedure, geographic location (environment). Parents should be informed that a positive screening result does not confirm a diagnosis, but medical care may be needed until the diagnosis is confirmed or ruled out.

9 #5: False Negatives Missed (late diagnosed) cases are rare in newborn screening but may still occur. One cause of missed cases is failure to screen; the pediatrician has an important role in making sure this doesn t happen unless the parents opt out. True false negatives will occur occasionally because of biologic variability.

10 #6: Second Screens Most states require a single screen, but several states require a second screen at about two weeks of life. Second screens may pick up disorders that were not detected on the first screen. In states where the second screen is mandated, it is the pediatrician s responsibility to check that this was done.

11 #7: New Tests on the Panel There is a process (Secretary s Advisory Committee on Hereditary Disorders in Newborns and Children) to add new tests to the recommended panel. Several states require additional tests that are not yet included in the recommendations. Tests to watch for: Krabbe disease, cyanotic congenital heart disease, lysosomal storage disease panel, Fragile-X, Hb H disease.

12 #8: When Your State Has a Pilot Screening programs in individual states have elected to pilot certain newborn screening tests. Special challenges: false positive and false negative rates not worked out, exact significance of abnormal results may not be clear, availability and utility of treatment may not be known, community education may be lacking. State Newborn Screening Advisory Committee should provide guidance to pediatricians; pediatricians should seek involvement in such committees.

13 #9: What About Babies Adopted from Outside the U.S.? Most newborn screening labs will accept samples after the newborn period (some up to 1 yr) if notified of age so that appropriate norms may be applied (if available) or results qualified. While screening is possible, most newborn screening labs lack the properly developed infant norms, so infants should be evaluated for growth and development, and specific diagnostic tests should be considered if clinically indicated.

14 #10: The Promise Not Kept Newborn screening has prevented morbidity and mortality for thousands of children. Failure to ensure that screening occurred results in liability for hospitals and pediatricians. Pediatricians should be aware of all of the newborn screening requirements in their state (conditions screened, number of screens required) and should document the results of all screens no news is not considered good news!

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