Pennsylvania Act 1965-251 — NEWBORN CHILD TESTING ACT

Act text

AN ACT

Requiring physicians, hospitals and other institutions to administer or cause to be administered tests for genetic diseases upon infants in certain cases. (Title amended July 4, 2008, P.L.288, No.36)

Section 1. Short Title.--This act shall be known and may be cited as the "Newborn Child Testing Act."

(1 added July 9, 1992, P.L.398, No.86)

Section 2. Definitions.--The following words and phrases when used in this act shall have the meanings given to them in this section unless the context clearly indicates otherwise:

"Birthing facilities." An inpatient or ambulatory health care facility licensed by the department that provides birthing and newborn care services. (Def. added Nov. 25, 2020, P.L.1259, No.133)

"Board." The Newborn Screening and Follow-up Technical Advisory Board in the Department of Health. (Def. amended Nov. 25, 2020, P.L.1259, No.133)

"Certified nurse-midwife." An individual licensed by the State Board of Medicine to practice midwifery under section 35 of the act of December 20, 1985 (P.L.457, No.112), known as the Medical Practice Act of 1985. (Def. added Nov. 25, 2020, P.L.1259, No.133)

"Department." The Department of Health of the Commonwealth.

"Disease." Diseases listed by the Department of Health by regulation which lead to intellectual disability, physical disability or death, including, without limitation, Phenylketonuria (PKU), maple syrup urine disease (MSUD) and sickle-cell disease (hemoglobinopathies). (Def. amended Nov. 25, 2020, P.L.1259, No.133)

"Health care practitioner." As the term is defined in section 103 of the act of July 19, 1979 (P.L.130, No.48), known as the Health Care Facilities Act. (Def. added Nov. 25, 2020, P.L.1259, No.133)

"Health care provider." A health care facility or health care practitioner as defined by regulations of the Department of Health.

"Newborn child." A child less than 28 days of age.

"Program." The Newborn Child Screening and Follow-up Program administered by the Department of Health.

"Repeat specimen." A second or subsequent blood specimen collected from a newborn child for the same purpose.

"Secretary." The Secretary of Health of the Commonwealth. (Def. added Nov. 25, 2020, P.L.1259, No.133)

"Unacceptable specimen." A newborn child's blood specimen which is not suitable in quality or quantity to perform newborn screening or confirmatory testing for one or more of the diseases covered by this act or the regulations promulgated thereunder.

"Unlicensed midwife." The term includes nationally certified midwives, traditional midwives, Amish, Mennonite or Plain midwives and other specific cultural or spiritual community-based midwives not licensed to practice midwifery in this Commonwealth. (Def. added Nov. 25, 2020, P.L.1259, No.133)

(2 added July 9, 1992, P.L.398, No.86)

Section 3. 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 intellectual disability, physical disability or death, the department, with the approval of the Newborn Screening and Follow-up Technical Advisory Board, shall establish a program providing for:

(1) The screening tests of newborn children and follow-up services for the following diseases:

(i) Phenylketonuria (PKU).

(ii) Maple syrup urine disease (MSUD).

(iii) Sickle-cell disease (hemoglobinopathies).

(iv) Galactosemia.

(v) Congenital adrenal hyperplasia (CAH).

(vi) Primary congenital hypothyroidism.

(vii) Pompe.

(viii) Hurler Syndrome (MPS I).

(ix) Adrenoleukodystrophy (ALD).

(x) Spinal Muscular Atrophy (SMA).

(2) A birthing facility, certified nurse-midwife, unlicensed midwife or health care practitioner shall order the screening tests of newborn 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 (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).

(xviii) Citrullinemia (CIT).

(xix) Hb S/Beta-thalassemia (Hb S/Th).

(xx) Hb S/C disease (Hb S/C).

(xxi) Biotinidase deficiency (BIOT).

(xxii) Cystic fibrosis (CF).

(xxiii) Severe combined immunodeficiency disease (SCID).

(xxiv) Globoid Cell Leukodystrophy (Krabbe).

(xxv) (Deleted by amendment).

(xxvi) (Deleted by amendment).

(xxvii) (Deleted by amendment).

(xxviii) (Deleted by amendment).

((a) amended Nov. 25, 2020, P.L.1259, No.133)

(b) ((b) deleted by amendment July 4, 2008, P.L.288, No.36)

(b.1) All laboratories performing the screening tests for newborn children shall report the results to the department for follow-up activities. The department shall provide follow-up services through the program relating to case management, referrals, confirmatory testing, assessment and diagnosis of newborn children with abnormal, inconclusive or unacceptable screening test results up to a newborn child's first year of life. ((b.1) amended Nov. 25, 2020, P.L.1259, No.133)

(c) No screening test shall be performed if a parent or guardian dissents on the ground that the test conflicts with a religious belief or practice.

(d) The department, with the approval of the Newborn Screening and Follow-up Technical Advisory Board, shall establish, by transmitting notice to the Legislative Reference Bureau for periodic publication in the Pennsylvania Bulletin, changes to the lists under subsection (a)(1) and (2) of those diseases for which newborn children shall be screened and laboratory screening results reported. Prior to making any change, the department and board shall jointly transmit a notice to the Legislative Reference Bureau for publication in the Pennsylvania Bulletin that establishes a public comment period of at least 30 days. ((d) amended Nov. 25, 2020, P.L.1259, No.133)

(d.1) The board shall consist of multidisciplinary members appointed by the secretary. The board shall include at least the following:

(1) An ethicist.

(2) Three pediatric physicians.

(3) A neonatologist.

(4) A genetic counselor.

(5) A hematologist.

(6) Two clinical geneticists.

(7) A nurse-midwife.

(8) A parent advocate.

(9) A representative recommended by a hospital association.

((d.1) added Nov. 25, 2020, P.L.1259, No.133)

(e) Notwithstanding any provisions of this act or the act of April 23, 1956 (1955 P.L.1510, No.500), known as the "Disease Prevention and Control Law of 1955," to the contrary, test results and diagnoses based upon screening tests for the diseases listed in this section for newborn children shall be reported to the department. The department shall establish, by transmitting notice to the Legislative Reference Bureau for periodic publication in the Pennsylvania Bulletin, the method for reporting test results to the department. ((e) amended Nov. 25, 2020, P.L.1259, No.133)

(f) Test results for genetic diseases listed in this section and any diseases subsequently added by the department under subsection (d) shall be subject to the confidentiality provisions of the "Disease Prevention and Control Law of 1955."

(3 added July 9, 1992, P.L.298, No.86)

Section 3.1. Mandated Screening and Follow-up.--Diseases and conditions mandated for screenings and follow-up services shall, at a minimum, include:

(1) diseases listed under section 3(a);

(2) diseases added by the board under section 3(d) to the list of diseases under section 3(a); and

(3) conditions listed in the Recommended Uniform Screening Panel by the United States Department of Health and Human Services.

(3.1 added Nov. 25, 2020, P.L.1259, No.133)

Section 4. Procurement of Specimens by Health Care Providers.--(a) Health care providers shall cause to be procured blood specimens of newborn children for required screening and confirmatory tests and send such specimens to a testing laboratory designated by the department.

(b) If the initial specimen is an unacceptable specimen or as otherwise required by the department by regulation, the health care provider shall collect a repeat specimen for screening and confirmatory tests.

(4 added July 9, 1992, P.L.398, No.86)

Section 5. Regulations.--The department, with the approval of the board, shall have the authority to promulgate regulations for the implementation and administration of this act.

(5 added July 9, 1992, P.L.398, No.86)