PRINTER'S NO. 1017
No. 847 Session of 2007
INTRODUCED BY ORIE, ERICKSON, KITCHEN, STACK, BOSCOLA, COSTA,
RAFFERTY, LOGAN, WASHINGTON, PIPPY, O'PAKE, MELLOW, MUSTO AND
WONDERLING, MAY 18, 2007
REFERRED TO PUBLIC HEALTH AND WELFARE, MAY 18, 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 definitions and for
6 newborn screening and follow-up program; providing for a list
7 of diseases and conditions; further providing for procurement
8 of specimens by health care providers and for regulations;
9 and making an appropriation.
10 The General Assembly of the Commonwealth of Pennsylvania
11 hereby enacts as follows:
12 Section 1. The title of the act of September 9, 1965
13 (P.L.497, No.251), known as the Newborn Child Testing Act, is
14 amended to read:
15 AN ACT
16 Requiring physicians, hospitals and other [institutions] health
17 care providers to administer or cause to be administered
18 tests for [phenylketonuria and other metabolic] genetic,
19 metabolic, hormonal and functional diseases upon infants in
20 certain cases.
1 Section 2. The definitions of "board" and "disease" in
2 section 2 of the act, added July 9, 1992 (P.L.398, No.86), are
3 amended to read:
4 Section 2. Definitions.--The following words and phrases
5 when used in this act shall have the meanings given to them in
6 this section unless the context clearly indicates otherwise:
7 ["Board." The State Advisory Health Board in the Department
8 of Health.]
9 * * *
10 ["Disease." Diseases listed by the Department of Health by
11 regulation which lead to mental retardation or physical defects,
12 including, without limitation, Phenylketonuria (PKU), maple
13 syrup urine disease (MSUD) and sickle-cell disease
14 (hemoglobinopathies).]
15 * * *
16 Section 3. Section 3 of the act, added July 9, 1992
17 (P.L.398, No.86), is amended to read:
18 Section 3. [Newborn Child Screening and Follow-up Program]
19 List of Diseases and Conditions.--(a) In order to assist health
20 care providers to determine whether treatment or other services
21 are necessary for a newborn child in order to avert mental
22 retardation, permanent disabilities or death, the department[,
23 with the approval of the board,] shall establish [a program
24 providing for:
25 (1) The screening tests of newborn children for diseases.
26 (2) Follow-up services relating to confirmatory testing,
27 assessment and diagnosis of newborn children with abnormal or
28 inconclusive screening test results.
29 (b) The department, with the approval of the board, shall
30 establish by regulation those diseases, in addition to
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1 phenylketonuria (PKU), maple syrup urine disease (MSUD) and
2 sickle-cell disease (hemoglobinopathies), for which newborn
3 children shall be tested and the methods for testing and
4 disseminating test results.
5 (c) No screening test shall be performed if a parent or
6 guardian dissents on the ground that the test conflicts with a
7 religious belief or practice.] a list of genetic, metabolic,
8 hormonal and functional diseases or conditions of concern,
9 including, but not limited to:
10 (1) Phenylketonuria (PKU).
11 (2) Maple syrup urine disease (MSUD).
12 (3) Sickle-cell anemia.
13 (4) Isovaleric acidemia/isovalery-CoA dehydrogenase
14 deficiency (IVA).
15 (5) Glutaric acidemia type I/glutaryl-CoA dehydrogenase
16 deficiency type I (GA I).
17 (6) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG).
18 (7) Multiple carboxylase deficiency (MCD).
19 (8) Methylmalonic acidemia mutase deficiency (MUT).
20 (9) Methylmalonic acidemia (CblA, B).
21 (10) 3-Methylcrontonyl-CoA carboxylase deficiency (3MCC).
22 (11) Propionic acidemia/propionyl-CoA carboxylase deficiency
23 (PROP).
24 (12) Beta-ketothiolase deficiency (BKT).
25 (13) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD).
26 (14) Very long-chain acyl-CoA dehydrogenase deficiency
27 (VLCAD).
28 (15) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
29 (LCHAD).
30 (16) Trifunctional protein deficiency (TFP).
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1 (17) Carnitine uptake defect (CUD).
2 (18) Homocystinuria (HCY).
3 (19) Tyrosinemia type I (TYR I).
4 (20) Argininosuccinic acidemia (ASA).
5 (21) Citrullinemia (CIT).
6 (22) Hb S/beta-thalassemia (Hb S/Th).
7 (23) Hb S/C disease (Hb S/C).
8 (24) Congenital hypothyroidism (CH).
9 (25) Biotinidase deficiency (BIOT).
10 (26) Congenital adrenal hyperplasia (CAH).
11 (27) Galactosemia (GALT).
12 (28) Cystic fibrosis (CF).
13 (b) The department shall establish by regulation those
14 conditions and diseases, in addition to those listed in
15 subsection (a), for which newborn children shall be tested.
16 Section 4. The act is amended by adding sections to read:
17 Section 3.1. Newborn Child Screening.--(a) The department
18 shall establish a program providing for the reporting of the
19 screening tests of newborn children for the conditions and
20 diseases listed under section 3.
21 (b) No screening test shall be performed if a parent or
22 guardian dissents on the ground that the test conflicts with a
23 religious belief or practice.
24 (c) All laboratories performing the screening tests under
25 the program established in subsection (a) shall report all
26 screening test results by the laboratories to the department.
27 (d) The department shall establish by publication in the
28 Pennsylvania Bulletin the method or methods for reporting all
29 screening test results to the department.
30 (e) The results of all screening tests performed under the
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1 program established in subsection (a) shall be subject to the
2 confidentiality provisions of section 15 of the act of April 23,
3 1956 (1955 P.L.1510, No.500), known as the "Disease Prevention
4 and Control Law of 1955."
5 Section 3.2. Newborn Child Screening Follow-up Program.--The
6 department shall establish a program providing for follow-up
7 services for a newborn child with abnormal or inconclusive
8 screening test results for the condition and diseases listed
9 under section 3. The follow-up services shall include, but not
10 be limited to:
11 (1) Notifying parents or guardians of test results.
12 (2) Notifying health care providers of test results.
13 (3) Arranging for confirmatory screening and testing.
14 (4) Notifying health care providers of options for a newborn
15 child with the conditions and diseases listed in section 3.
16 Section 5. Sections 4 and 5 of the act, added July 9, 1992
17 (P.L.398, No.86), are amended to read:
18 Section 4. Procurement of Specimens by Health Care
19 Providers.--(a) Health care providers shall cause to be
20 procured blood specimens of newborn children for required
21 screening and confirmatory tests and send such specimens to a
22 testing laboratory designated by the department.
23 (b) If the initial specimen is an unacceptable specimen [or
24 as otherwise required by the department by regulation, the], a
25 health care provider shall collect a repeat specimen for
26 screening and confirmatory tests.
27 Section 5. Regulations.--The department[, with the approval
28 of the board,] shall have the authority to promulgate
29 regulations for the implementation and administration of this
30 act.
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1 Section 6. The sum of $2,000,000, or as much thereof as may
2 be necessary, is hereby appropriated to the Department of Health
3 for the fiscal year July 1, 2007, to June 30, 2008, to carry out
4 the purposes of this act.
5 Section 7. This act shall take effect July 1, 2007, or
6 immediately, whichever is later.
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