SB 983 — An Act amending the act of September 9, 1965 (P.L.497, No.251), known as the Newborn Child Testing Act, further providing for definitions and for Newborn Child Screening and Follow-up Program; and providing for mandated screening and follow-up.

PRIOR PRINTER'S NO.

1448 PRINTER'STHE NO.GENERAL ASSEMBLY OF PENNSYLVANIA SENATE BILL Session of No.

2000983 THE2020 GENERALINTRODUCED ASSEMBLYBY OFDiSANTO, PENNSYLVANIABROWNE, SENATEMENSCH, BILLCOLLETT, SessionMARTIN, ofFONTANA, No.MASTRIANO, TARTAGLIONE AND PITTMAN, JANUARY 15, 2020 REFERRED TO AGING AND YOUTH, JANUARY 15, 2020 AN ACT Ameentitled "An act requiring physicians, hospitals and other institutions to administer or cause to be administered tests for genetic diseases upon infants in certain cases," further providing for definitions and for Newborn Child Screening and Follow-up Program;

983 2020 INTRODUCED BY DiSANTO, BROWNE, MENSCH, COLLETT, MARTIN, FONTANA, ARNOLD AND PHILLIPS-HILL, JANUARY 15, 2020 LEACH, STEFANO, SENATOR JUDY WARD, AGING AND YOUTH, AS AMENDED, SEPTEMBER 21, 2020 AN ACT Amending the act of September 9, 1965 (P.L.497, No.251), entitled "An act requiring physicians, hospitals and otherproviding institutionsfor toNewborn administerChild orScreening causeProgram toAccount, be administered tests for geneticnewborn diseaseschild uponscreening infantsfee in certain cases," further providing for definitions and for Newbornmandated Childscreening Screening and Follow-upfollow-up. Program;

and providing for Newborn Child Screening <-- Program Account, for newborn child screening fee and for mandated screening and follow-up.

* * * "Direct-entry midwife." An independent practitioner educated <-- in the discipline of midwifery through self-study, apprenticeship, a midwifery school or a college or university- based program distinct from the discipline of nursing.

* * * "SECRETARY."Section THE2. SECRETARY OF HEALTH OF THE COMMONWEALTH.

<--Section *3(a), *(b.1), *(d) "UNLICENSEDand MIDWIFE."(e) THEof TERMthe INCLUDESact NATIONALLYare CERTIFIEDamended MIDWIVES,to TRADITIONALread: MIDWIVES, AMISH, MENNONITE OR PLAIN MIDWIVES AND OTHER SPECIFIC CULTURAL OR SPIRITUAL COMMUNITY- 20200SB0983PN2000 - 2 - BASED MIDWIVES NOT LICENSED TO PRACTICE MIDWIFERY IN THIS COMMONWEALTH.

Section 2.

Section 3(a), (b.1), (d) and (e) of the act are amended AND THE SECTION IS AMENDED BY ADDING A SUBSECTION to <-- read:

Newborn Child Screening and Follow-up Program.-- (a) In order to assist health care providers to determine whether treatment or other services are necessary to avert [mental retardation, permanent disabilities] intellectual 20200SB0983PN1448 - 2 - disability, physical disability or death, the department, [with <-- the approval of the Newborn Screening and Follow-up Technical Advisory Committee] in consultation with the boardboard, [COMMITTEE] <-- BOARD, shall establish a program providing for:

(2) Follow-up services relating to case management, 20200SB0983PN2000 - 3 - referrals, confirmatory testing, assessment and diagnosis of newborn children with abnormal, inconclusive or unacceptable screening test results for the following diseases:

(v) Glutaric acidemia Type I/Glutaryl-CoA dehydrogenase 20200SB0983PN1448 - 3 - deficiency Type I (GA I).

20200SB0983PN2000 - 4 - (xxii) Hb S/Beta-thalassemia (Hb S/Th).

<-- (viii) Pompe.

(ix)20200SB0983PN1448 (VIII)- 4 - (ix) Hurler Syndrome (MPS I).

<-- (x) (IX) Adrenoleukodystrophy (ALD).

<-- (xi) Isovaleric acidemia/Isovalery-CoA dehydrogenase <-- deficiency (IVA).

20200SB0983PN2000 - 5 - (xxiv) Carnitine uptake defect (CUD).

20200SB0983PN1448 - 5 - (xxxiii) Cystic fibrosis (CF).

(xxxv) (X) Spinal Muscular Atrophy (SMA).

<-- (2) (Reserved).

A BIRTHING FACILITY, CERTIFIED-NURSE <-- MIDWIFE, UNLICENSED MIDWIFE OR HEALTH CARE PRACTITIONER SHALL ORDER THE SCREENING TESTS OF NEW CHILDREN FOR THE FOLLOWING DISEASES:

(I) ISOVALERIC ACIDEMIA/ISOVALERY-COA DEHYDROGENASE DEFICIENCY (IVA).

(II) GLUTARIC ACIDEMIA TYPE I/GLUTARYL-COA DEHYDROGENASE DEFICIENCY TYPE I (GA I).

(III) 3-HYDROXY 3-METHYLGLUTARYL-COA LYASE DEFICIENCY (HMG).

(IV) MULTIPLE CARBOXYLASE DEFICIENCY (MCD).

(V) METHYLMALONIC ACIDEMIA (MUTASE DEFICIENCY) (MUT).

(VI) METHYLMALONIC ACIDEMIA (CBL A, B).

(VII) 3-METHYLCRONTONYL-COA CARBOXYLASE DEFICIENCY (3MCC).

(VIII) PROPIONIC ACIDEMIA/PROPIONYL-COA CARBOXYLASE DEFICIENCY (PROP).

(IX) BETA-KETOTHIOLASE DEFICIENCY (BKT).

(X) MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD).

(XI) VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 20200SB0983PN2000 - 6 - (VLCAD).

(XII) LONG-CHAIN L-3-OH ACYL-COA DEHYDROGENASE DEFICIENCY (LCHAD).

(XIII) TRIFUNCTIONAL PROTEIN DEFICIENCY (TFP).

(XIV) CARNITINE UPTAKE DEFECT (CUD).

(XV) HOMOCYSTINURIA (HCY).

(XVI) TYROSINEMIA TYPE I (TYR I).

(XVII) ARGININOSUCCINIC ACIDEMIA (ASA).