PRINTER'S NO. 1037
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 AND GOODMAN, MARCH 22, 2007
REFERRED TO COMMITTEE ON HEALTH AND HUMAN SERVICES,
MARCH 22, 2007
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 upon infants in
17 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, shall establish a
8 program providing for:
9 (1) The screening tests of newborn children for [diseases.]
10 phenylketonuria (PKU), maple syrup urine disease (MSUD), sickle-
11 cell disease (hemoglobinopathies), galactosemia, congenital
12 adrenal hyperplasia (CAH) and primary congenital
13 hyperthyroidism.
14 (2) Follow-up services relating to confirmatory screening,
15 testing, assessment and diagnosis of newborn children with
16 abnormal or inconclusive screening test results[.] for the
17 following diseases:
18 [(b) The department, with the approval of the board, shall
19 establish by regulation those diseases, in addition to
20 phenylketonuria (PKU), maple syrup urine disease (MSUD) and
21 sickle-cell disease (hemoglobinopathies, for which newborn
22 children shall be tested and the methods for testing and
23 disseminating test results.]
24 (i) Phenylketonuria (PKU).
25 (ii) Maple syrup urine disease (MSUD).
26 (iii) Sickle-cell disease (hemoglobinopathies).
27 (iv) Isovaleric acidemia/Isovalery-CoA dehydrogenase
28 deficiency (IVA).
29 (v) Glutaric acidemia Type I/Glutaryl-CoA dehydrogenase
30 deficiency Type I (GA I).
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1 (vi) 3-Hydroxy 3-methylglutaryl-CoA lyase deficiency (HMG).
2 (vii) Multiple carboxylase deficiency (MCD).
3 (viii) Methylmalonic acidemia (mutase deficiency) (MUT).
4 (ix) Methylmalonic acidemia (Cbl A,B).
5 (x) 3-Methylcrontonyl-CoA carboxylase deficiency (3MCC).
6 (xi) Propionic acidemia/Propionyl-CoA carboxylase deficiency
7 (PROP).
8 (xii) Beta-ketothiolase deficiency (BKT).
9 (xiii) Medium chain acyl-CoA dehydrogenase deficiency
10 (MCAD).
11 (xiv) Very long-chain acyl-CoA dehydrogenase deficiency
12 (VLCAD).
13 (xv) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
14 (LCHAD).
15 (xvi) Trifunctional protein deficiency (TFP).
16 (xvii) Carnitine uptake defect (CUD).
17 (xviii) Homocystinuria (HCY).
18 (xix) Tyrosinemia type I (TYR I).
19 (xx) Argininosuccinic acidemia (ASA).
20 (xxi) Citrullinemia (CIT).
21 (xxii) Hb S/Beta-thalassemia (Hb S/Th).
22 (xxiii) Hb S/C disease (Hb S/C).
23 (xxix) Congenital hypothyroidism (HYPOTH).
24 (xxv) Biotinidase deficiency (BIOT).
25 (xxvi) Congenital adrenal hyperplasia (CAH).
26 (xxvii) Galactosemia (GALT).
27 (xxviii) Cystic fibrosis (CF).
28 (b.1) All laboratories performing the screening tests for
29 newborn children shall report the results to the department for
30 follow-up activities.
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1 (c) No screening test shall be performed if a parent or
2 guardian dissents on the ground that the test conflicts with a
3 religious belief or practice.
4 (d) The department, with the approval of the board, shall
5 establish, by periodic publication in the Pennsylvania Bulletin,
6 changes to the lists under subsection (a)(1) and (2) of those
7 diseases for which newborn children shall be tested and for
8 which the department shall provide follow-up services.
9 (e) The department, with the approval of the board, shall
10 establish by regulation the methods for testing for those
11 diseases listed under subsection (a)(1).
12 (f) Notwithstanding any provisions of this act or the act of
13 April 23, 1956 (1955 P.L.1510, No.500), known as the "Disease
14 Prevention and Control Law of 1955," to the contrary, test
15 results and diagnoses based upon screening tests for the
16 diseases listed in this section for newborn children shall be
17 reported to the department. The department shall establish, by
18 periodic publication in the Pennsylvania Bulletin, the method
19 for reporting test results to the department.
20 (g) Test results for genetic diseases listed in this
21 section, and any diseases subsequently added by the department
22 under subsection (d), shall be subject to the confidentiality
23 provisions of the "Disease Prevention and Control Law of 1955."
24 Section 3. The sum of $2,000,000 is hereby appropriated to
25 the Department of Health for the fiscal year July 1, 2007, to
26 June 30, 2008, in addition to any other sums appropriated to the
27 Department of Health, to provide follow-up activities that
28 ensure diagnostic follow-up and treatment referrals on the
29 conditions listed under section 3(a)(2) of the act.
30 Section 4. This act shall take effect in 180 days.
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