Public Act 098-0440
 
HB2661 EnrolledLRB098 09098 RPM 39235 b


  
    AN ACT concerning health facilities.
  
 
    Be it enacted by the People of the State of Illinois,
 
represented in the General Assembly:
  


 
    Section 5. The Newborn Metabolic Screening Act is amended  
by changing Sections 1, 1.5, and 2 and by adding Sections 1.10, 
3.1, 3.2,   and 3.3 as follows:
 



    (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 genetic, 
phenylketonuria, hypothyroidism, galactosemia and such
other 
metabolic, and congenital anomalies 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.

    "Department" means the Department of Public Health. 
    "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 240/1.10 new)
    Sec. 1.10. Critical congenital heart disease.
    (a) The General Assembly finds as follows: 
        (1) According to the United States Secretary of Health 
    and Human Services Advisory Committee on Heritable 
    Disorders in Newborns and Children, congenital heart 
    disease affects approximately 7 to 9 of every 1,000 live 
    births in the United States and Europe.  The federal Centers 
    for Disease Control and Prevention state that critical 
    congenital heart disease is the leading cause of infant 
    death due to birth defects.
        (2) Many newborn lives could potentially be saved by 
    earlier detection and treatment of critical congenital 
    heart disease if health care facilities in the State were 
    required to perform a simple, non-invasive newborn 
    screening in conjunction with current screening methods. 
    (b) The Department shall require that screening tests for 
critical congenital heart defects be performed at birthing 
hospitals and birth centers in accordance with a testing 
protocol adopted by the Department, by rule, in line with 
current standards of care, such as pulse oximetry screening, 
and may authorize screening tests for additional congenital 
anomalies to be performed at birthing hospitals and birth 
centers in accordance with a testing protocol adopted by the 
Department, by rule.
    (c) The Department may authorize health care facilities to 
report screening test results and follow-up information. 
 



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



    Sec. 2. General provisions. 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 disorders included in newborn screening
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) Require that Beginning July 1, 2002, provide all 
newborns be screened
with expanded screening tests for the 
presence of certain genetic, metabolic, and congenital 
anomalies as determined by the Department, by rule.
    (a-5.1) Require that all blood and biological specimens 
collected pursuant to this Act or the rules adopted under this 
Act be submitted for testing to the nearest Department 
laboratory designated to perform such tests. The following 
provisions shall apply concerning testing:
        (1) 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 and for 
    the follow-up of infants with an abnormal screening test. 
    Fees collected from the provision of this testing service 
    shall be placed in 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 the Fund.
        (2) Moneys shall be appropriated from the Fund to the 
    Department solely for the purposes of providing newborn 
    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 (a-5.1) is 
    guilty of a petty offense. 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.
        (3) If by July 1,
2002, the Department is unable to 
    provide the 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 this 
    subsection (a-5.1) (e) of
this Section.
    (a-5.2) Maintain a registry of cases, including 
information of importance for the purpose of follow-up services 
to assess long-term outcomes. 
    (a-5.3) 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.
    (a-5.4) Arrange for or provide public health nursing, 
nutrition, and social services and clinical consultation as 
indicated.
    (a-5.5) The Department shall utilize the Genetic and 
Metabolic Diseases Advisory Committee established under the 
Genetic and Metabolic Diseases Advisory Committee Act to 
provide guidance and recommendations to the Department's 
newborn screening program.  The Genetic and Metabolic Diseases 
Advisory Committee shall review the feasibility and 
advisability of including additional metabolic, genetic, and 
congenital disorders in the newborn screening panel, according 
to a review protocol applied to each suggested addition to the 
screening panel.  The Department shall consider the 
recommendations of the Genetic and Metabolic Diseases Advisory 
Committee in determining whether to include an additional 
disorder in the screening panel prior to proposing an 
administrative rule concerning inclusion of an additional 
disorder in the newborn screening panel. Notwithstanding any 
other provision of law, no new screening may begin prior to the 
occurrence of all the following:
        (1) the establishment and verification of relevant and

    appropriate performance specifications as defined under

    the federal Clinical Laboratory Improvement Amendments and

    regulations thereunder for U.S. Food and Drug

    Administration-cleared or in-house developed methods,

    performed under an institutional review board-approved

    protocol, if required;
        (2) the availability of quality assurance testing

    methodology for the processes set forth in item (1) of this 
    subsection (a-5.5);
        (3) the acquisition and installment by the Department

    of the equipment necessary to implement the screening

    tests;
        (4) the establishment of precise threshold values 
    ensuring
defined disorder identification for each 
    screening test;
        (5) the authentication of pilot testing achieving each

    milestone described in items (1) through (4) of this

    subsection (a-5.5) for each disorder screening test; and
        (6) the authentication of achieving the potential of 
    high
throughput standards for statewide volume of each 
    disorder
screening test concomitant with each milestone 
    described
in items (1) through (4) of this subsection 
    (a-5.5). 

    (a-6) (Blank). 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) (Blank).  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) (Blank). 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) (Blank). Maintain a registry of cases including 
information of importance
for the purpose of follow-up services 
to prevent intellectual disabilities.

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

    (e) (Blank). 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 240/3.1 new)
    Sec. 3.1. Lysosomal storage disorders. In accordance with 
the timetable specified in this Section, the Department shall 
provide all newborns with 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:
        (1) 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;
        (2) the availability of quality assurance testing 
    methodology for these processes;
        (3) the acquisition and installment by the Department 
    of the equipment necessary to implement the screening 
    tests;
        (4) the establishment of precise threshold values 
    ensuring defined disorder identification for each 
    screening test;
        (5) the authentication of pilot testing achieving each 
    milestone described in items (1) through (4) of this 
    Section  for each disorder screening test; and
        (6) the authentication of achieving the potential of 
    high
throughput standards for statewide volume of each 
    disorder screening test concomitant with each milestone 
    described in items (1) through (4) of this Section. 
    It was the goal of Public Act 97-532 that the 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. 
 
    (410 ILCS 240/3.2 new)
    Sec. 3.2. Severe combined immunodeficiency disease. In 
accordance with the timetable specified in this Section, the 
Department shall provide all newborns with 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:
        (1) 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;
        (2) the availability of quality assurance testing and

    comparative threshold values for SCID;
        (3) the acquisition and installment by the
Department 
    of the equipment necessary to implement the
initial pilot 
    and statewide volume of screening
tests for SCID;
        (4) the establishment of precise threshold values

    ensuring defined disorder identification for SCID;
        (5) the authentication of pilot testing achieving each

    milestone described in items (1) through (4) of this

    Section for SCID; and
        (6) the authentication of achieving the potential of 
    high
throughput standards for statewide volume of the SCID

    screening test concomitant with each milestone described

    in items (1) through (4) of this Section. 
    It was the goal of Public Act 97-532 that the 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. 
 
    (410 ILCS 240/3.3 new)
    Sec. 3.3. Mucopolysacchardosis disorders. In accordance 
with the timetable specified in this Section, the Department 
shall provide all newborns with 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:
        (1) 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;
        (2) the availability of quality assurance testing and 
    comparative threshold values for each screening test and 
    accompanying disorder;
        (3) the acquisition and installment by the Department 
    of the equipment necessary to implement the initial pilot 
    and statewide volume of screening tests for each disorder;
        (4) the establishment of precise threshold values 
    ensuring defined disorder identification for each 
    screening test;
        (5) the authentication of pilot testing achieving each 
    milestone described in items (1) through (4) of this 
    Section for each disorder screening test; and
        (6) the authentication of achieving the potential of 
    high throughput standards for statewide volume of each 
    disorder screening test concomitant with each milestone 
    described in items (1) through (4) of this Section. 
    It was the goal of Public Act 97-532 that the 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.

 
    Section 10. The Genetic and Metabolic Diseases Advisory 
Committee Act is amended  by changing Section 5 as follows:
 
    (410 ILCS 265/5)

    Sec. 5. Genetic and Metabolic Diseases Advisory Committee. 
    (a) The Director of Public Health shall create the Genetic 
and Metabolic Diseases Advisory Committee to advise the 
Department of Public Health regarding issues relevant to 
newborn screenings of metabolic diseases.
    (b) The purposes of Metabolic Diseases Advisory Committee 
are all of the following:
        (1) Advise the Department regarding issues relevant to 
    its Genetics Program.
        (2) Advise the Department regarding optimal laboratory 
    methodologies for screening of the targeted conditions.


        (3) Recommend to the Department consultants who are 
    qualified to diagnose a condition detected by screening, 
    provide management of care, and genetic counseling for the 
    family.


        (4) Monitor the incidence of each condition for which 
    newborn screening is done, evaluate the effects of 
    treatment and genetic counseling, and provide advice on 
    disorders to be included in newborn screening panel.


        (5) Advise the Department on educational programs for 
    professionals and the general public.


        (6) Advise the Department on new developments and areas 
    of interest in relation to the Genetics Program.
        (7) Any other matter deemed appropriate by the 
    Committee and the Director.
    (c) The Committee shall consist of 20 members appointed by 
the Director of Public Health.  Membership shall include 
physicians, geneticists, nurses, nutritionists,  and other 
allied health professionals, as well as patients and parents. 
Ex-officio members may be appointed, but shall not have voting 
privileges.

    (d) Members of the Committee may receive compensation for 
necessary expenses incurred in the performance of their duties. 
(Source: P.A. 95-695, eff. 11-5-07.)
 
    Section 99. Effective date. This Act takes effect upon 
becoming law.

Effective Date:  8/16/2013