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January 23, 2008

Genetic and Metabolic Screening - New Provisions

TO: Chief Executive Officers
  Directors of Maternal and Child Care


Synopsis: The Department of Public Health (IDPH) has adopted regulatory changes to the Newborn Metabolic Screening and Treatment Code and the Illinois General Assembly recently enacted legislation related to infant metabolic screenings. This memo describes the changes, now effective, that relate to hospitals.

REGULATORY CHANGES. On September 14, 2007, the IDPH posted adopted changes to the Newborn Metabolic Screening and Treatment Code that include adding cystic fibrosis (CF) to the list of diseases for which infant screening is required in Illinois. A phase-in project requiring CF screening of babies born at certain Illinois hospitals will begin this month. At the end of that phase-in project, on March 3, 2008, all specimens submitted to the IDPH Newborn Screening Laboratory will be tested for CF. The Department increased the fee for the analysis of specimens. In addition, Section 661.20 of the Code, "Collection of Blood and Submission of Specimens" was amended to require:

  • Collection of specimen as soon as possible after 24 hours of age;
  • Where the infant leaves the hospital before 24 hours of age, a blood specimen shall be collected prior to discharge; the attending physician or his or her designee shall collect a second blood specimen for testing by 24 to 48 hours of age;
  • If at all possible, every infant transferred to a second health care facility prior to 24 hours of age shall have a blood specimen collected prior to transfer. If an infant is transferred before a specimen is collected, the first facility must inform the second facility of this fact. The second facility must collect and submit the specimen;
  • Infants admitted to a NICU or special care nursery (SCN) shall have a blood specimen collected at 24 to 48 hours of age. A second specimen shall be collected at 14 days of age or prior to discharge from the NICU or SCN, whichever situation precedes;
  • If an infant requires a blood transfusion prior to 24 hours of age, if at all possible, a blood specimen shall be collected prior to the transfusion. If the initial specimen was collected post-transfusion, a second specimen shall be collected 48 hours post-transfusion, and a third specimen shall be collected three months following the last transfusion.
    •

    Unchanged Blood Specimen Provisions. The Code continues to require, for infants not born in or admitted to a hospital during the neonatal period, that a blood specimen be collected as soon as possible, but no earlier than 24 hours after birth; and submission of specimens to the Department lab, within 24 hours of collection is highly recommended.

    The complete text of the revised section of the Code may be accessed by clicking here.

    LEGISLATIVE CHANGES. On November 5, 2007, Governor Blagojevich signed into law the Genetic and Metabolic Diseases Advisory Committee Act, Public Act 95-0695, effective immediately. This Act creates an advisory committee to advise the Department of Public Health regarding issues relevant to newborn screenings of metabolic diseases. The Act also amends the Phenylketonuria Testing Act by changing its name to the "Newborn Metabolic Screening Act" and providing for the conduct of new screenings, according to a specified timetable, for the Lysosomal Storage Disorders known as Krabbe, Pompe, Gaucher, Fabry, and Niemann-Pick. It is the goal of the legislation to have the expanded screening for these disorders begin within three years after the effective date of this Act (November 5, 2007). The Act authorizes the Department to implement an additional fee for the screening prior to beginning the testing in order to accumulate the resources for start-up and other costs related to screening and follow-up programs.

    The complete text of the Genetic and Metabolic Diseases Advisory Committee Act (P.A. 95-0695) may be accessed by clicking here.

    Staff Contact: Barb Haller at bhaller@ihastaff.org or 630.276.5474.