SENATE AMENDED PRIOR PRINTER'S NOS. 1037, 2184, 3405 PRINTER'S NO. 4183
No. 883 Session of 2007
INTRODUCED BY KENNEY, CURRY, J. TAYLOR, BISHOP, SONNEY, MYERS, McILHATTAN, WATSON, REICHLEY, YOUNGBLOOD, SCAVELLO, O'NEILL, PETRONE, NAILOR, KOTIK, CAPPELLI, JOSEPHS, BAKER, CRUZ, FABRIZIO, COHEN, HENNESSEY, VULAKOVICH, WALKO, SOLOBAY, RUBLEY, GEIST, FREEMAN, CALTAGIRONE, JAMES, DENLINGER, HESS, GRUCELA, GOODMAN AND MELIO, MARCH 22, 2007
SENATOR ARMSTRONG, APPROPRIATIONS, IN SENATE, RE-REPORTED AS AMENDED, JULY 2, 2008
AN ACT 1 Amending the act of September 9, 1965 (P.L.497, No.251), 2 entitled "An act requiring physicians, hospitals and other 3 institutions to administer or cause to be administered tests 4 for phenylketonuria and other metabolic diseases upon infants 5 in certain cases," further providing for newborn child 6 screening and testing; and making editorial changes. 7 The General Assembly of the Commonwealth of Pennsylvania 8 hereby enacts as follows: 9 Section 1. The title of the act of September 9, 1965 10 (P.L.497, No.251), known as the Newborn Child Testing Act, is 11 amended to read: 12 AN ACT 13 Requiring physicians, hospitals and other institutions to 14 administer or cause to be administered tests for 15 [phenylketonuria and other metabolic diseases] genetic, <-- 16 metabolic, hormonal and functional conditions DISEASES upon <-- 17 infants in certain cases.
1 Section 2. Section 3 of the act, added July 9, 1992 2 (P.L.398, No.86), is amended to read: 3 Section 3. Newborn Child Screening and Follow-up Program.-- 4 (a) In order to assist health care providers to determine 5 whether treatment or other services are necessary to avert 6 mental retardation, permanent disabilities or death, the 7 department, with the approval of the [board] NEWBORN SCREENING <-- 8 AND FOLLOW-UP TECHNICAL ADVISORY BOARD, shall establish a 9 program providing for: 10 (1) The screening tests of newborn children for [diseases.] 11 phenylketonuria (PKU), maple syrup urine disease (MSUD), sickle- <-- 12 cell disease (hemoglobinopathies), galactosemia, congenital 13 adrenal hyperplasia (CAH) and primary congenital 14 hyperthyroidism. THE FOLLOWING DISEASES: <-- 15 (I) PHENYLKETONURIA (PKU). 16 (II) MAPLE SYRUP URINE DISEASE (MSUD). 17 (III) SICKLE-CELL DISEASE (HEMOGLOBINOPATHIES). 18 (IV) GALACTOSEMIA. 19 (V) CONGENITAL ADRENAL HYPERPLASIA (CAH). 20 (VI) PRIMARY CONGENITAL HYPERTHYROIDISM HYPOTHYROIDISM. <-- 21 (2) Follow-up services relating to CASE MANAGEMENT, <-- 22 REFERRALS, confirmatory screening, testing, assessment and <-- 23 diagnosis of newborn children with abnormal [or inconclusive], <-- 24 INCONCLUSIVE OR UNACCEPTABLE screening test results[.] for the 25 following diseases: 26 [(b) The department, with the approval of the board, shall 27 establish by regulation those diseases, in addition to 28 phenylketonuria (PKU), maple syrup urine disease (MSUD) and 29 sickle-cell disease (hemoglobinopathies, for which newborn 30 children shall be tested and the methods for testing and 20070H0883B4183 - 2 -
1 disseminating test results.] 2 (i) Phenylketonuria (PKU). 3 (ii) Maple syrup urine disease (MSUD). 4 (iii) Sickle-cell disease (hemoglobinopathies). 5 (iv) Isovaleric acidemia/Isovalery-CoA dehydrogenase 6 deficiency (IVA). 7 (v) Glutaric acidemia Type I/Glutaryl-CoA dehydrogenase 8 deficiency Type I (GA I). 9 (vi) 3-Hydroxy 3-methylglutaryl-CoA lyase deficiency (HMG). 10 (vii) Multiple carboxylase deficiency (MCD). 11 (viii) Methylmalonic acidemia (mutase deficiency) (MUT). 12 (ix) Methylmalonic acidemia (Cbl A,B). 13 (x) 3-Methylcrontonyl-CoA carboxylase deficiency (3MCC). 14 (xi) Propionic acidemia/Propionyl-CoA carboxylase deficiency 15 (PROP). 16 (xii) Beta-ketothiolase deficiency (BKT). 17 (xiii) Medium chain acyl-CoA dehydrogenase deficiency 18 (MCAD). 19 (xiv) Very long-chain acyl-CoA dehydrogenase deficiency 20 (VLCAD). 21 (xv) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency 22 (LCHAD). 23 (xvi) Trifunctional protein deficiency (TFP). 24 (xvii) Carnitine uptake defect (CUD). 25 (xviii) Homocystinuria (HCY). 26 (xix) Tyrosinemia type I (TYR I). 27 (xx) Argininosuccinic acidemia (ASA). 28 (xxi) Citrullinemia (CIT). 29 (xxii) Hb S/Beta-thalassemia (Hb S/Th). 30 (xxiii) Hb S/C disease (Hb S/C). 20070H0883B4183 - 3 -
1 (xxix) (XXIV) Congenital hypothyroidism (HYPOTH). <-- 2 (xxv) Biotinidase deficiency (BIOT). 3 (xxvi) Congenital adrenal hyperplasia (CAH). 4 (xxvii) Galactosemia (GALT). 5 (xxviii) Cystic fibrosis (CF). 6 (b.1) All laboratories performing the screening tests for 7 newborn children shall report the results to the department for 8 follow-up activities. 9 (c) No screening test shall be performed if a parent or 10 guardian dissents on the ground that the test conflicts with a 11 religious belief or practice. 12 (d) The department, with the approval of the board NEWBORN <-- 13 SCREENING AND FOLLOW-UP TECHNICAL ADVISORY BOARD, shall 14 establish, by periodic publication in the Pennsylvania Bulletin, 15 changes to the lists under subsection (a)(1) and (2) of those 16 diseases for which newborn children shall be tested and for <-- 17 which the department shall provide follow-up services. SCREENED <-- 18 AND LABORATORY SCREENING RESULTS REPORTED. 19 (e) The department, with the approval of the board, shall <-- 20 establish by regulation the methods for testing for those 21 diseases listed under subsection (a)(1). 22 (f) (E) Notwithstanding any provisions of this act or the <-- 23 act of April 23, 1956 (1955 P.L.1510, No.500), known as the 24 "Disease Prevention and Control Law of 1955," to the contrary, 25 test results and diagnoses based upon screening tests for the 26 diseases listed in this section for newborn children shall be 27 reported to the department. The department shall establish, by 28 periodic publication in the Pennsylvania Bulletin, the method 29 for reporting test results to the department. 30 (g) (F) Test results for genetic diseases listed in this <-- 20070H0883B4183 - 4 -
1 section, and any diseases subsequently added by the department 2 under subsection (d), shall be subject to the confidentiality 3 provisions of the "Disease Prevention and Control Law of 1955." 4 Section 3. This act shall take effect July 1, 2008 2009. <-- C12L35MSP/20070H0883B4183 - 5 -