Rep. Robyn Gabel

Filed: 3/19/2013

 

 


 

 


 
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1
AMENDMENT TO HOUSE BILL 2661

2    AMENDMENT NO. ______. Amend House Bill 2661 by replacing
3everything after the enacting clause with the following:
 
4    "Section 5. The Newborn Metabolic Screening Act is amended
5by changing Sections 1, 1.5, and 2 and by adding Sections 1.10,
63.1, 3.2, and 3.3 as follows:
 
7    (410 ILCS 240/1)  (from Ch. 111 1/2, par. 4903)
8    Sec. 1. The Illinois Department of Public Health shall
9promulgate and enforce rules and regulations requiring that
10every newborn be subjected to tests for genetic,
11phenylketonuria, hypothyroidism, galactosemia and such other
12metabolic, and congenital anomalies diseases as the Department
13may deem necessary from time to time. The Department is
14empowered to promulgate such additional rules and regulations
15as are found necessary for the administration of this Act,
16including mandatory reporting of the results of all tests for

 

 

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1these conditions to the Illinois Department of Public Health.
2(Source: P.A. 83-87.)
 
3    (410 ILCS 240/1.5)
4    Sec. 1.5. Definitions. In this Act:
5    "Accredited laboratory" means any laboratory that holds a
6valid certificate issued under the Clinical Laboratory
7Improvement Amendments of 1988, 102 Stat. 2903, 42 U.S.C. 263a,
8as amended, and that reports its screening results by using
9normal pediatric reference ranges.
10    "Department" means the Department of Public Health.
11    "Expanded screening" means screening for genetic and
12metabolic disorders, including but not limited to amino acid
13disorders, organic acid disorders, fatty acid oxidation
14disorders, and other abnormal profiles, in newborn infants that
15can be detected through the use of a tandem mass spectrometer.
16    "Tandem mass spectrometer" means an analytical instrument
17used to detect numerous genetic and metabolic disorders at one
18time.
19(Source: P.A. 92-701, eff. 7-19-02.)
 
20    (410 ILCS 240/1.10 new)
21    Sec. 1.10. Critical congenital heart disease.
22    (a) The General Assembly finds as follows:
23        (1) According to the United States Secretary of Health
24    and Human Services Advisory Committee on Heritable

 

 

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1    Disorders in Newborns and Children, congenital heart
2    disease affects approximately 7 to 9 of every 1,000 live
3    births in the United States and Europe. The federal Centers
4    for Disease Control and Prevention state that critical
5    congenital heart disease is the leading cause of infant
6    death due to birth defects.
7        (2) Many newborn lives could potentially be saved by
8    earlier detection and treatment of critical congenital
9    heart disease if health care facilities in the State were
10    required to perform a simple, non-invasive newborn
11    screening in conjunction with current screening methods.
12    (b) The Department may authorize screening tests for
13congenital anomalies, including, but not limited to, a
14screening for critical congenital heart defects, to be
15performed at a health care facility that provides newborn
16infant care and that complies with the test procedures and the
17standards of accuracy and precision required by the Department.
18    (c) The Department may authorize health care facilities to
19report screening test results and follow-up information.
 
20    (410 ILCS 240/2)  (from Ch. 111 1/2, par. 4904)
21    Sec. 2. General provisions. The Department of Public Health
22shall administer the provisions of this Act and shall:
23    (a) Institute and carry on an intensive educational program
24among physicians, hospitals, public health nurses and the
25public concerning disorders included in newborn screening the

 

 

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1diseases phenylketonuria, hypothyroidism, galactosemia and
2other metabolic diseases. This educational program shall
3include information about the nature of the diseases and
4examinations for the detection of the diseases in early infancy
5in order that measures may be taken to prevent the intellectual
6disabilities resulting from the diseases.
7    (a-5) Require that Beginning July 1, 2002, provide all
8newborns be screened with expanded screening tests for the
9presence of genetic, metabolic, and congenital anomalies.
10    (a-5.1) Require that all blood and biological specimens
11collected pursuant to this Act or the rules adopted under this
12Act be submitted for testing to the nearest Department
13laboratory designated to perform such tests. The following
14provisions shall apply concerning testing:
15        (1) The Department may develop a reasonable fee
16    structure and may levy fees according to such structure to
17    cover the cost of providing this testing service and for
18    the follow-up of infants with an abnormal screening test.
19    Fees collected from the provision of this testing service
20    shall be placed in the Metabolic Screening and Treatment
21    Fund. Other State and federal funds for expenses related to
22    metabolic screening, follow-up, and treatment programs may
23    also be placed in the Fund.
24        (2) Moneys shall be appropriated from the Fund to the
25    Department solely for the purposes of providing newborn
26    screening, follow-up, and treatment programs. Nothing in

 

 

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1    this Act shall be construed to prohibit any licensed
2    medical facility from collecting additional specimens for
3    testing for metabolic or neonatal diseases or any other
4    diseases or conditions, as it deems fit. Any person
5    violating the provisions of this subsection (a-5.1) is
6    guilty of a petty offense. endocrine, or other metabolic
7    disorders, including phenylketonuria, galactosemia,
8    hypothyroidism, congenital adrenal hyperplasia,
9    biotinidase deficiency, and sickling disorders, as well as
10    other amino acid disorders, organic acid disorders, fatty
11    acid oxidation disorders, and other abnormalities
12    detectable through the use of a tandem mass spectrometer.
13        (3) If by July 1, 2002, the Department is unable to
14    provide the expanded screening using the State Laboratory,
15    it shall temporarily provide such screening through an
16    accredited laboratory selected by the Department until the
17    Department has the capacity to provide screening through
18    the State Laboratory. If expanded screening is provided on
19    a temporary basis through an accredited laboratory, the
20    Department shall substitute the fee charged by the
21    accredited laboratory, plus a 5% surcharge for
22    documentation and handling, for the fee authorized in this
23    subsection (a-5.1) (e) of this Section.
24    (a-5.2) Maintain a registry of cases, including
25information of importance for the purpose of follow-up services
26to assess long-term outcomes.

 

 

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1    (a-5.3) Supply the necessary metabolic treatment formulas
2where practicable for diagnosed cases of amino acid metabolism
3disorders, including phenylketonuria, organic acid disorders,
4and fatty acid oxidation disorders for as long as medically
5indicated, when the product is not available through other
6State agencies.
7    (a-5.4) Arrange for or provide public health nursing,
8nutrition, and social services and clinical consultation as
9indicated.
10    (a-5.5) The Director shall appoint a Genetic and Metabolic
11Diseases Advisory Committee to provide guidance and
12recommendations to the Department's newborn screening program.
13The Genetic and Metabolic Diseases Advisory Committee shall
14review the feasibility of including additional metabolic,
15genetic, and congenital disorders in the newborn screening
16panel. The Genetic and Metabolic Diseases Advisory Committee
17shall be comprised of health and medical experts and consumer
18representatives. The Department shall consider the
19recommendations of the Genetic and Metabolic Diseases Advisory
20Committee in determining whether to include an additional
21disorder in the screening panel prior to adopting
22administrative rules. Members of the Genetic and Metabolic
23Diseases Advisory Committee may receive compensation for
24necessary expenses incurred in the performance of their duties.
25    (a-6) (Blank). In accordance with the timetable specified
26in this subsection, provide all newborns with expanded

 

 

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1screening tests for the presence of certain Lysosomal Storage
2Disorders known as Krabbe, Pompe, Gaucher, Fabry, and
3Niemann-Pick. The testing shall begin within 6 months following
4the occurrence of all of the following:
5        (i) the establishment and verification of relevant and
6    appropriate performance specifications as defined under
7    the federal Clinical Laboratory Improvement Amendments and
8    regulations thereunder for Federal Drug
9    Administration-cleared or in-house developed methods,
10    performed under an institutional review board approved
11    protocol, if required;
12        (ii) the availability of quality assurance testing
13    methodology for these processes;
14        (iii) the acquisition and installment by the
15    Department of the equipment necessary to implement the
16    expanded screening tests;
17        (iv) establishment of precise threshold values
18    ensuring defined disorder identification for each
19    screening test;
20        (v) authentication of pilot testing achieving each
21    milestone described in items (i) through (iv) of this
22    subsection (a-6) for each disorder screening test; and
23        (vi) authentication achieving potentiality of high
24    throughput standards for statewide volume of each disorder
25    screening test concomitant with each milestone described
26    in items (i) through (iv) of this subsection (a-6).

 

 

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1    It is the goal of Public Act 97-532 that the expanded
2screening for the specified Lysosomal Storage Disorders begins
3within 2 years after August 23, 2011 (the effective date of
4Public Act 97-532). The Department is authorized to implement
5an additional fee for the screening prior to beginning the
6testing in order to accumulate the resources for start-up and
7other costs associated with implementation of the screening and
8thereafter to support the costs associated with screening and
9follow-up programs for the specified Lysosomal Storage
10Disorders.
11    (a-7) (Blank). In accordance with the timetable specified
12in this subsection (a-7), provide all newborns with expanded
13screening tests for the presence of Severe Combined
14Immunodeficiency Disease (SCID). The testing shall begin
15within 12 months following the occurrence of all of the
16following:
17        (i) the establishment and verification of relevant and
18    appropriate performance specifications as defined under
19    the federal Clinical Laboratory Improvement Amendments and
20    regulations thereunder for Federal Drug
21    Administration-cleared or in-house developed methods,
22    performed under an institutional review board approved
23    protocol, if required;
24        (ii) the availability of quality assurance testing and
25    comparative threshold values for SCID;
26        (iii) the acquisition and installment by the

 

 

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1    Department of the equipment necessary to implement the
2    initial pilot and expanded statewide volume of screening
3    tests for SCID;
4        (iv) establishment of precise threshold values
5    ensuring defined disorder identification for SCID;
6        (v) authentication of pilot testing achieving each
7    milestone described in items (i) through (iv) of this
8    subsection (a-7) for SCID; and
9        (vi) authentication achieving potentiality of high
10    throughput standards for statewide volume of the SCID
11    screening test concomitant with each milestone described
12    in items (i) through (iv) of this subsection (a-7).
13    It is the goal of Public Act 97-532 that the expanded
14screening for Severe Combined Immunodeficiency Disease begins
15within 2 years after August 23, 2011 (the effective date of
16Public Act 97-532). The Department is authorized to implement
17an additional fee for the screening prior to beginning the
18testing in order to accumulate the resources for start-up and
19other costs associated with implementation of the screening and
20thereafter to support the costs associated with screening and
21follow-up programs for Severe Combined Immunodeficiency
22Disease.
23    (a-8) (Blank). In accordance with the timetable specified
24in this subsection (a-8), provide all newborns with expanded
25screening tests for the presence of certain Lysosomal Storage
26Disorders known as Mucopolysaccharidosis I (Hurlers) and

 

 

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1Mucopolysaccharidosis II (Hunters). The testing shall begin
2within 12 months following the occurrence of all of the
3following:
4        (i) the establishment and verification of relevant and
5    appropriate performance specifications as defined under
6    the federal Clinical Laboratory Improvement Amendments and
7    regulations thereunder for Federal Drug
8    Administration-cleared or in-house developed methods,
9    performed under an institutional review board approved
10    protocol, if required;
11        (ii) the availability of quality assurance testing and
12    comparative threshold values for each screening test and
13    accompanying disorder;
14        (iii) the acquisition and installment by the
15    Department of the equipment necessary to implement the
16    initial pilot and expanded statewide volume of screening
17    tests for each disorder;
18        (iv) establishment of precise threshold values
19    ensuring defined disorder identification for each
20    screening test;
21        (v) authentication of pilot testing achieving each
22    milestone described in items (i) through (iv) of this
23    subsection (a-8) for each disorder screening test; and
24        (vi) authentication achieving potentiality of high
25    throughput standards for statewide volume of each disorder
26    screening test concomitant with each milestone described

 

 

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1    in items (i) through (iv) of this subsection (a-8).
2    It is the goal of Public Act 97-532 that the expanded
3screening for the specified Lysosomal Storage Disorders begins
4within 3 years after August 23, 2011 (the effective date of
5Public Act 97-532). The Department is authorized to implement
6an additional fee for the screening prior to beginning the
7testing in order to accumulate the resources for start-up and
8other costs associated with implementation of the screening and
9thereafter to support the costs associated with screening and
10follow-up programs for the specified Lysosomal Storage
11Disorders.
12    (b) (Blank). Maintain a registry of cases including
13information of importance for the purpose of follow-up services
14to prevent intellectual disabilities.
15    (c) (Blank). Supply the necessary metabolic treatment
16formulas where practicable for diagnosed cases of amino acid
17metabolism disorders, including phenylketonuria, organic acid
18disorders, and fatty acid oxidation disorders for as long as
19medically indicated, when the product is not available through
20other State agencies.
21    (d) (Blank). Arrange for or provide public health nursing,
22nutrition and social services and clinical consultation as
23indicated.
24    (e) (Blank). Require that all specimens collected pursuant
25to this Act or the rules and regulations promulgated hereunder
26be submitted for testing to the nearest Department of Public

 

 

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1Health laboratory designated to perform such tests. The
2Department may develop a reasonable fee structure and may levy
3fees according to such structure to cover the cost of providing
4this testing service. Fees collected from the provision of this
5testing service shall be placed in a special fund in the State
6Treasury, hereafter known as the Metabolic Screening and
7Treatment Fund. Other State and federal funds for expenses
8related to metabolic screening, follow-up and treatment
9programs may also be placed in such Fund. Moneys shall be
10appropriated from such Fund to the Department of Public Health
11solely for the purposes of providing metabolic screening,
12follow-up and treatment programs. Nothing in this Act shall be
13construed to prohibit any licensed medical facility from
14collecting additional specimens for testing for metabolic or
15neonatal diseases or any other diseases or conditions, as it
16deems fit. Any person violating the provisions of this
17subsection (e) is guilty of a petty offense.
18(Source: P.A. 97-227, eff. 1-1-12; 97-532, eff. 8-23-11;
1997-813, eff. 7-13-12.)
 
20    (410 ILCS 240/3.1 new)
21    Sec. 3.1. Lysosomal storage disorders. In accordance with
22the timetable specified in this Section, the Department shall
23provide all newborns with screening tests for the presence of
24certain lysosomal storage disorders known as Krabbe, Pompe,
25Gaucher, Fabry, and Niemann-Pick. The testing shall begin

 

 

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1within 6 months following the occurrence of all of the
2following:
3        (1) the establishment and verification of relevant and
4    appropriate performance specifications as defined under
5    the federal Clinical Laboratory Improvement Amendments and
6    regulations thereunder for Federal Drug
7    Administration-cleared or in-house developed methods,
8    performed under an institutional review board approved
9    protocol, if required;
10        (2) the availability of quality assurance testing
11    methodology for these processes;
12        (3) the acquisition and installment by the Department
13    of the equipment necessary to implement the screening
14    tests;
15        (4) establishment of precise threshold values ensuring
16    defined disorder identification for each screening test;
17        (5) authentication of pilot testing achieving each
18    milestone described in items (1) through (4) of this
19    Section for each disorder screening test; and
20        (6) authentication achieving potentiality of high
21    throughput standards for statewide volume of each disorder
22    screening test concomitant with each milestone described
23    in items (1) through (4) of this Section.
24    It is the goal of Public Act 97-532 that the screening for
25the specified lysosomal storage disorders begins within 2 years
26after August 23, 2011 (the effective date of Public Act

 

 

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197-532). The Department is authorized to implement an
2additional fee for the screening prior to beginning the testing
3in order to accumulate the resources for start-up and other
4costs associated with implementation of the screening and
5thereafter to support the costs associated with screening and
6follow-up programs for the specified lysosomal storage
7disorders.
 
8    (410 ILCS 240/3.2 new)
9    Sec. 3.2. Severe combined immunodeficiency disease. In
10accordance with the timetable specified in this Section, the
11Department shall provide all newborns with screening tests for
12the presence of severe combined immunodeficiency disease
13(SCID). The testing shall begin within 12 months following the
14occurrence of all of the following:
15        (1) the establishment and verification of relevant and
16    appropriate performance specifications as defined under
17    the federal Clinical Laboratory Improvement Amendments and
18    regulations thereunder for Federal Drug
19    Administration-cleared or in-house developed methods,
20    performed under an institutional review board approved
21    protocol, if required;
22        (2) the availability of quality assurance testing and
23    comparative threshold values for SCID;
24        (3) the acquisition and installment by the Department
25    of the equipment necessary to implement the initial pilot

 

 

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1    and statewide volume of screening tests for SCID;
2        (4) establishment of precise threshold values ensuring
3    defined disorder identification for SCID;
4        (5) authentication of pilot testing achieving each
5    milestone described in items (1) through (4) of this
6    Section for SCID; and
7        (6) authentication achieving potentiality of high
8    throughput standards for statewide volume of the SCID
9    screening test concomitant with each milestone described
10    in items (1) through (4) of this Section.
11    It is the goal of Public Act 97-532 that the screening for
12severe combined immunodeficiency disease begins within 2 years
13after August 23, 2011 (the effective date of Public Act
1497-532). The Department is authorized to implement an
15additional fee for the screening prior to beginning the testing
16in order to accumulate the resources for start-up and other
17costs associated with implementation of the screening and
18thereafter to support the costs associated with screening and
19follow-up programs for severe combined immunodeficiency
20disease.
 
21    (410 ILCS 240/3.3 new)
22    Sec. 3.3. Mucopolysacchardosis disorders. In accordance
23with the timetable specified in this Section, the Department
24shall provide all newborns with screening tests for the
25presence of certain lysosomal storage disorders known as

 

 

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1mucopolysaccharidosis I (Hurlers) and mucopolysaccharidosis II
2(Hunters). The testing shall begin within 12 months following
3the occurrence of all of the following:
4        (1) the establishment and verification of relevant and
5    appropriate performance specifications as defined under
6    the federal Clinical Laboratory Improvement Amendments and
7    regulations thereunder for Federal Drug
8    Administration-cleared or in-house developed methods,
9    performed under an institutional review board approved
10    protocol, if required;
11        (2) the availability of quality assurance testing and
12    comparative threshold values for each screening test and
13    accompanying disorder;
14        (3) the acquisition and installment by the Department
15    of the equipment necessary to implement the initial pilot
16    and statewide volume of screening tests for each disorder;
17        (4) establishment of precise threshold values ensuring
18    defined disorder identification for each screening test;
19        (5) authentication of pilot testing achieving each
20    milestone described in items (1) through (4) of this
21    Section for each disorder screening test; and
22        (6) authentication achieving potentiality of high
23    throughput standards for statewide volume of each disorder
24    screening test concomitant with each milestone described
25    in items (1) through (4) of this Section.
26    It is the goal of Public Act 97-532 that the screening for

 

 

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1the specified lysosomal storage disorders begins within 3 years
2after August 23, 2011 (the effective date of Public Act
397-532). The Department is authorized to implement an
4additional fee for the screening prior to beginning the testing
5in order to accumulate the resources for start-up and other
6costs associated with implementation of the screening and
7thereafter to support the costs associated with screening and
8follow-up programs for the specified lysosomal storage
9disorders.
 
10    Section 99. Effective date. This Act takes effect upon
11becoming law.".