410 ILCS 240/ Newborn Metabolic Screening Act.

(410 ILCS 240/0.01) (from Ch. 111 1/2, par. 4902.9)

Sec. 0.01. Short title. This Act may be cited as the Newborn Metabolic Screening Act.

(Source: P.A. 95-695, eff. 11-5-07.)

(410 ILCS 240/1) (from Ch. 111 1/2, par. 4903)

Sec. 1. The Illinois Department of Public Health shall promulgate and enforce rules and regulations requiring that every newborn be subjected to tests for phenylketonuria, hypothyroidism, galactosemia and such other metabolic diseases as the Department may deem necessary from time to time. The Department is empowered to promulgate such additional rules and regulations as are found necessary for the administration of this Act, including mandatory reporting of the results of all tests for these conditions to the Illinois Department of Public Health.

(Source: P.A. 83-87.)

(410 ILCS 240/1.5)

Sec. 1.5. Definitions. In this Act:

"Accredited laboratory" means any laboratory that holds a valid certificate issued under the Clinical Laboratory Improvement Amendments of 1988, 102 Stat. 2903, 42 U.S.C. 263a, as amended, and that reports its screening results by using normal pediatric reference ranges.

"Expanded screening" means screening for genetic and metabolic disorders, including but not limited to amino acid disorders, organic acid disorders, fatty acid oxidation disorders, and other abnormal profiles, in newborn infants that can be detected through the use of a tandem mass spectrometer.

"Tandem mass spectrometer" means an analytical instrument used to detect numerous genetic and metabolic disorders at one time.

(Source: P.A. 92-701, eff. 7-19-02.)

(410 ILCS 240/2) (from Ch. 111 1/2, par. 4904)

Sec. 2. The Department of Public Health shall administer the provisions of this Act and shall:

(a) Institute and carry on an intensive educational program among physicians, hospitals, public health nurses and the public concerning the diseases phenylketonuria, hypothyroidism, galactosemia and other metabolic diseases. This educational program shall include information about the nature of the diseases and examinations for the detection of the diseases in early infancy in order that measures may be taken to prevent the intellectual disabilities resulting from the diseases.

(a-5) Beginning July 1, 2002, provide all newborns with expanded screening tests for the presence of genetic, endocrine, or other metabolic disorders, including phenylketonuria, galactosemia, hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, and sickling disorders, as well as other amino acid disorders, organic acid disorders, fatty acid oxidation disorders, and other abnormalities detectable through the use of a tandem mass spectrometer. If by July 1, 2002, the Department is unable to provide expanded screening using the State Laboratory, it shall temporarily provide such screening through an accredited laboratory selected by the Department until the Department has the capacity to provide screening through the State Laboratory. If expanded screening is provided on a temporary basis through an accredited laboratory, the Department shall substitute the fee charged by the accredited laboratory, plus a 5% surcharge for documentation and handling, for the fee authorized in subsection (e) of this Section.

(a-6) In accordance with the timetable specified in this subsection, provide all newborns with expanded screening tests for the presence of certain Lysosomal Storage Disorders known as Krabbe, Pompe, Gaucher, Fabry, and Niemann-Pick. The testing shall begin within 6 months following the occurrence of all of the following:

(i) the establishment and verification of relevant and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required;

(ii) the availability of quality assurance testing methodology for these processes;

(iii) the acquisition and installment by the Department of the equipment necessary to implement the expanded screening tests;

(iv) establishment of precise threshold values ensuring defined disorder identification for each screening test;

(v) authentication of pilot testing achieving each milestone described in items (i) through (iv) of this subsection (a-6) for each disorder screening test; and

(vi) authentication achieving potentiality of high throughput standards for statewide volume of each disorder screening test concomitant with each milestone described in items (i) through (iv) of this subsection (a-6).

It is the goal of Public Act 97-532 that the expanded screening for the specified Lysosomal Storage Disorders begins within 2 years after August 23, 2011 (the effective date of Public Act 97-532). The Department is authorized to implement an additional fee for the screening prior to beginning the testing in order to accumulate the resources for start-up and other costs associated with implementation of the screening and thereafter to support the costs associated with screening and follow-up programs for the specified Lysosomal Storage Disorders.

(a-7) In accordance with the timetable specified in this subsection (a-7), provide all newborns with expanded screening tests for the presence of Severe Combined Immunodeficiency Disease (SCID). The testing shall begin within 12 months following the occurrence of all of the following:

(i) the establishment and verification of relevant and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required;

(ii) the availability of quality assurance testing and comparative threshold values for SCID;

(iii) the acquisition and installment by the Department of the equipment necessary to implement the initial pilot and expanded statewide volume of screening tests for SCID;

(iv) establishment of precise threshold values ensuring defined disorder identification for SCID;

(v) authentication of pilot testing achieving each milestone described in items (i) through (iv) of this subsection (a-7) for SCID; and

(vi) authentication achieving potentiality of high throughput standards for statewide volume of the SCID screening test concomitant with each milestone described in items (i) through (iv) of this subsection (a-7).

It is the goal of Public Act 97-532 that the expanded screening for Severe Combined Immunodeficiency Disease begins within 2 years after August 23, 2011 (the effective date of Public Act 97-532). The Department is authorized to implement an additional fee for the screening prior to beginning the testing in order to accumulate the resources for start-up and other costs associated with implementation of the screening and thereafter to support the costs associated with screening and follow-up programs for Severe Combined Immunodeficiency Disease.

(a-8) In accordance with the timetable specified in this subsection (a-8), provide all newborns with expanded screening tests for the presence of certain Lysosomal Storage Disorders known as Mucopolysaccharidosis I (Hurlers) and Mucopolysaccharidosis II (Hunters). The testing shall begin within 12 months following the occurrence of all of the following:

(i) the establishment and verification of relevant and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required;

(ii) the availability of quality assurance testing and comparative threshold values for each screening test and accompanying disorder;

(iii) the acquisition and installment by the Department of the equipment necessary to implement the initial pilot and expanded statewide volume of screening tests for each disorder;

(iv) establishment of precise threshold values ensuring defined disorder identification for each screening test;

(v) authentication of pilot testing achieving each milestone described in items (i) through (iv) of this subsection (a-8) for each disorder screening test; and

(vi) authentication achieving potentiality of high throughput standards for statewide volume of each disorder screening test concomitant with each milestone described in items (i) through (iv) of this subsection (a-8).

It is the goal of Public Act 97-532 that the expanded screening for the specified Lysosomal Storage Disorders begins within 3 years after August 23, 2011 (the effective date of Public Act 97-532). The Department is authorized to implement an additional fee for the screening prior to beginning the testing in order to accumulate the resources for start-up and other costs associated with implementation of the screening and thereafter to support the costs associated with screening and follow-up programs for the specified Lysosomal Storage Disorders.

(b) Maintain a registry of cases including information of importance for the purpose of follow-up services to prevent intellectual disabilities.

(c) Supply the necessary metabolic treatment formulas where practicable for diagnosed cases of amino acid metabolism disorders, including phenylketonuria, organic acid disorders, and fatty acid oxidation disorders for as long as medically indicated, when the product is not available through other State agencies.

(d) Arrange for or provide public health nursing, nutrition and social services and clinical consultation as indicated.

(e) Require that all specimens collected pursuant to this Act or the rules and regulations promulgated hereunder be submitted for testing to the nearest Department of Public Health laboratory designated to perform such tests. The Department may develop a reasonable fee structure and may levy fees according to such structure to cover the cost of providing this testing service. Fees collected from the provision of this testing service shall be placed in a special fund in the State Treasury, hereafter known as the Metabolic Screening and Treatment Fund. Other State and federal funds for expenses related to metabolic screening, follow-up and treatment programs may also be placed in such Fund. Moneys shall be appropriated from such Fund to the Department of Public Health solely for the purposes of providing metabolic screening, follow-up and treatment programs. Nothing in this Act shall be construed to prohibit any licensed medical facility from collecting additional specimens for testing for metabolic or neonatal diseases or any other diseases or conditions, as it deems fit. Any person violating the provisions of this subsection (e) is guilty of a petty offense.

(Source: P.A. 97-227, eff. 1-1-12; 97-532, eff. 8-23-11; 97-813, eff. 7-13-12.)

(410 ILCS 240/3) (from Ch. 111 1/2, par. 4905)

Sec. 3. The provisions of this Act shall not apply when parent or guardian of the child objects thereto on the grounds that such test conflicts with his religious tenets and practices. A written statement of such objection shall be presented to the physician or other person whose duty it is to administer and report such tests under the provisions of this Act.

(Source: Laws 1965, p. 284.)