CABINET FOR HEALTH AND FAMILY SERVICES
Department for Public Health
Division of Maternal and Child Health
(Amendment)
902 KAR 4:030.
Newborn screening program.
RELATES
TO: KRS 211.180(1)[214.155]
STATUTORY
AUTHORITY: KRS 194A.050(1), 211.090(3), 214.155
NECESSITY,
FUNCTION, AND CONFORMITY: KRS 214.155 requires the Cabinet for Health and
Family Services to operate a newborn screening program for inborn errors of
metabolism and other inherited and congenital disorders and conditions, and to
establish a schedule of fees to cover the actual costs to the cabinet for the
program. This administrative regulation requires that infants be tested for
inborn errors of metabolism and other inherited and congenital disorders and
conditions as specified in KRS 214.155, and establishes the schedule of fees to
cover actual costs of the newborn screening program.
Section
1. Definitions. (1) "Blood spot testing" means laboratory testing
that is performed on newborn infants to detect a wide variety of inherited and
congenital disorders and conditions by using a laboratory-authorized filter
paper specimen card.
(2)
"Critical congenital heart disease" or "CCHD" means an
abnormality in the structure or function of the heart that exists at birth and
places an infant at significant risk of disability or death if not diagnosed
and treated soon after birth.
(3)
"Diagnostic echocardiogram" means a test that uses ultrasound to
provide an image of the heart that is performed by a technician trained to
perform pediatric echocardiograms.
(4)
"Laboratory" means the Division of Laboratory Services within the
Cabinet for Health and Family Services, Department for Public Health.
(5)
"Pediatric cardiologist" means a pediatrician that is board-certified
to provide pediatric cardiology care.
(6)
"Program" means the Newborn Screening Program for inherited and
congenital disorders and conditions operated by the Cabinet for Health and
Family Services, Department for Public Health.
(7)
"Pulse oximetry testing" means a noninvasive test that estimates the
percentage of hemoglobin in blood that is saturated with oxygen.
(8)
"Submitter" means a hospital, primary care provider, health
department, birthing center, laboratory, or midwife submitting an infant’s
blood specimen for the purpose of newborn screening.
Section
2. Tests for inborn errors of metabolism or other inherited or congenital
disorders and conditions for newborn infants as part of newborn screening shall
be consistent with the U.S. Department of Health and Human Services’
Recommended Uniform Screening Panel and include the following:
(1)
2-Methyl-3-hydroxybutyric aciduria (2M3HBA);
(2)
2-Methylbutyryl-CoA dehydrogenase deficiency (2MBDH);
(3)
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC);
(4)
3-Methylglutaconic aciduria (3MGA);
(5)
3-Hydroxy 3-Methylglutaric aciduria (HMG);
(6)
Argininemia (ARG);
(7)
Argininosuccinic acidemia (ASA);
(8)
Beta-ketothiolase deficiency (BKT);
(9)
Biotinidase disorder (BIOT);
(10)
Carnitine acylcarnitine translocase deficiency (CACT);
(11)
Carnitine palmitoyl transferase deficiency I (CPT-I);
(12)
Carnitine palmitoyl transferase deficiency II (CPT-II);
(13)
Carnitine uptake defect (CUD);
(14)
Citrullinemia type I (CIT-I);
(15)
Citrullinemia type II (CIT-II);
(16)
Congenital adrenal hyperplasia (CAH);
(17)
Congenital hypothyroidism (CH);
(18)
Critical congenital heart disease (CCHD);
(19)
Cystic fibrosis (CF);
(20)
Ethylmalonic encephalopathy (EE);
(21)
Galactosemia (GAL);
(22)
Glutaric acidemia type I (GA I);
(23)
Glutaric acidemia type II (GA-II);
(24)
Glycogen storage disease type II (GSD-II, Pompe Disease);
(25)
Homocystinuria (HCY);
(26)[(25)]
Hypermethioninemia (MET);
(27)[(26)]
Hyperphenylalinemia (H-PHE);
(28)[(27)]
Isobutyryl-CoA dehydrogenase deficiency (IBG);
(29)[(28)]
Isovaleric acidemia (IVA);
(30)[(29)]
Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCAD);
(31)[(30)]
Malonic academia (MAL);
(32)[(31)]
Maple syrup urine disease (MSUD);
(33)[(32)]
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD);
(34)[(33)]
Methylmalonic acidemia (Cbl A,B);
(35)[(34)]
Methylmalonic acidemia (Cbl C,D);
(36)[(35)]
Methylmalonic acidemia mutase deficiency (MUT);
(37)
Mucopolysaccharidosis type I (MPS-I, Hurler’s Disease);
(38)[(36)]
Multiple carboxylase deficiency (MCD);
(39)[(37)]
Non-ketotic Hyperglycinemia (NKHG);
(40)[(38)]
Phenylketonuria (PKU);
(41)[(39)]
Propionic acidemia (PA);
(42)[(40)]
Severe combined immunodeficiency (SCID);
(43)[(41)]
Short-chain acyl-CoA dehydrogenase deficiency (SCAD);
(44)[(42)]
Sickle cell disease (Hb S/S);
(45)[(43)]
Sickle cell hemoglobin C disease (Hb S/C);
(46)[(44)]
Sickle cell S Beta Thalassemia (Hb S/Th);
(47)[(45)]
Trifunctional protein deficiency (TFP);
(48)[(46)]
Tyrosinemia type I (TYR-I);
(49)[(47)]
Tyrosinemia type II (TYR-II);
(50)[(48)]
Tyrosinemia type III (TYR-III);
(51)[(49)]
Various Hemoglobinopathies (includes Hb E); and
(52)[(50)]
Very long-chain acyl-CoA deficiency (VLCAD).
Section
3. Tests for inborn errors of metabolism or other inherited or congenital
disorders and conditions for newborn infants as part of newborn screening shall
include the following disorder that is not recommended by the U.S. Department
of Health and Human Services, but is required by Kentucky law: Krabbe Disease
(KD).
Section
4. Submitter Responsibilities. (1) Except as provided in KRS 214.155(3) and
(5), the administrative officer or other person in charge of the hospital or
institution caring for newborn infants and the attending primary care provider
or midwife shall administer to, or verify administration of tests to, every
infant in its care prior to hospital discharge:
(a)
A blood spot test to detect inborn errors of metabolism and other inherited and
congenital disorders and conditions identified in Sections[Section]
2 and 3 of this administrative regulation; and
(b)
Pulse oximetry testing to detect critical congenital heart disease.
(2)
If a baby is not born in a hospital or institution, the attending primary care
provider or midwife shall ensure that both tests required by subsection (1) of
this section are:
(a)
Administered between twenty-four (24) and forty-eight (48) hours of age;
(b)
Acted upon if abnormal; and
(c)
Reported to the program by fax or by the cabinet’s web-based system.
(3)
A capillary blood spot specimen shall be obtained from a newborn infant not
requiring an extended stay due to illness or prematurity between twenty-four
(24) and forty-eight (48) hours of age.
(4)
If the infant is to remain in the hospital due to illness or prematurity, the
hospital shall obtain the capillary blood spot specimen from that infant after
twenty-four (24) and before seventy-two (72) hours of age.
(5)
Except as provided by subsection (6) of this section, the pulse oximetry
testing shall be performed when the infant is twenty-four (24) hours of age or
older and shall occur prior to discharge.
(6)
If the infant is discharged prior to twenty-four (24) hours of age, the blood
spot and pulse oximetry testing shall be performed as close to twenty-four (24)
hours of age as possible.
(7)
If an infant is transferred from the birth hospital to another hospital during
the newborn hospital stay, the rules established in this subsection shall
apply.
(a)
The sending hospital shall obtain the capillary blood spot specimen for the
newborn screening blood test and the pulse oximetry testing for CCHD if the
infant is twenty-four (24) hours of age or more when the infant is transferred
to another hospital.
(b)
The receiving hospital shall ensure the newborn screening blood spot test and
the pulse oximetry testing are performed if the infant is less than twenty-four
(24) hours of age when the infant is transferred.
(8)
If an infant expires before the newborn screening blood spot test and pulse
oximetry test have been performed, the program shall be notified within five
(5) calendar days.
(9)
If the information on the filter paper specimen card obtained by the submitter
and sent to the laboratory is incomplete or inadequate, then the submitter,
upon request of the program, shall:
(a)
Attempt to locate the infant and obtain a complete and adequate specimen within
ten (10) days; and
(b)
Report to the program a specimen that is unable to be obtained within ten (10)
days.
(10)
Submitters that are responsible for the collection of the initial blood spot
specimen and pulse oximetry testing for newborn screening shall:
(a)
Provide to an infant’s parent or guardian educational materials regarding
newborn screening and pulse oximetry testing;
(b)
Designate a newborn screening coordinator and physician responsible for the
coordination of the facility’s newborn screening compliance by having a newborn
screening protocol;
(c)
Notify the program of the name of the individuals designated in paragraph (b)
of this subsection each year in January and if the designated individual
changes; and
(d)
Develop a written protocol for tracking newborn screening compliance which
shall:
1.
Be submitted to the program each year in January; and
2.
Include, at a minimum:
a.
A requirement that the name of the primary care provider that will be attending
the infant after birth or discharge or, if known, the primary care provider who
will be caring for the infant after discharge, shall be placed on the filter
paper specimen card sent with the initial blood spot specimen to the
laboratory. If the infant is in the neonatal intensive care unit, the name of
the attending neonatologist may be placed on the filter specimen card sent with
the initial blood spot specimen to the laboratory;
b.
Verification that:
(i)
Each infant born at that facility has had a specimen obtained for newborn
screening and pulse oximetry testing on or before discharge;
(ii)
All information on the specimen card has been thoroughly completed; and
(iii)
The specimen has been submitted appropriately;
c.
A process to ensure that final results of the pulse oximetry screening are
entered into the Cabinet’s web-based system; and
d.
A procedure to assure the hospital or facility that identifies that an infant
has not had a specimen obtained for newborn screening and pulse oximetry
testing prior to discharge shall:
(i)
Notify the program;
(ii)
Use every reasonable effort to locate the infant;
(iii)
Notify the parent or guardian and the primary care provider immediately; and
(iv)
Recommend that the infant present to the hospital or primary care provider
immediately for a newborn screening blood spot specimen and pulse oximetry
testing.
(11)
Hospitals or facilities shall report all written refusals, in accordance with
KRS 214.155(5), to the program within five (5) calendar days.
Section
5.[4.] Blood Specimen Collection. (1) Capillary blood spot
specimens required in Section 4[3] of this administrative
regulation shall be obtained by a heel stick.
(2)
Blood from the heel stick shall be applied directly to filter paper specimen
card.
(3)
All circles shall be saturated completely using a drop of blood per circle on a
filter paper specimen card.
(4)
The specimen collector shall provide, on the filter paper specimen card,
information requested by the laboratory.
(5)
The capillary blood spot specimen shall be air dried for three (3) hours and
then shall be mailed or sent to the laboratory:
(a)
Within twenty-four (24) hours of collection of the specimen; or
(b)
The next business day in which mail or delivery service is available.
(6)
Submitters sending blood spot specimens via regular mail services shall send
the specimens to the following address: Cabinet for Health and Family Services,
Department for Public Health, Division of Laboratory Services, P.O. Box 2010,
Frankfort, Kentucky, 40602.
(7)
Submitters sending blood spot specimens via expedited mail services shall
ensure the specimens are sent to the following address: Cabinet for Health and
Family Services, Department for Public Health, Division of Laboratory Services,
100[10] Sower Boulevard, Suite 204, Frankfort, Kentucky 40602.
(8)
Specimens processed or tracked under the newborn screening program shall be
limited to specimens on infants less than six (6) months of age.
Section
6.[5.] Unsatisfactory or Inadequate Blood Specimen. (1) If a
specimen is unsatisfactory or inadequate to produce a valid result, the
laboratory shall notify the submitter and the parent on the filter paper
specimen card that the newborn screen needs to be repeated as soon as possible.
(2)
If a requested repeat specimen has not been received within ten (10) business
days from the date the repeat request was issued, the program shall notify the
parent by mail of the need for a repeat screening test.
Section
7.[6.] Special Circumstances - Blood Transfusion. If a newborn
infant requires a blood transfusion, the following rules for newborn screening
shall apply:
(1)
The hospital shall obtain a capillary blood spot specimen for newborn screening
prior to the infant being transfused, except in an emergency situation.
(2)
If the pre-transfusion blood spot specimen was obtained before twenty-four (24)
hours of age, or if it was not obtained due to an emergency situation, then the
hospital or primary care provider shall use all reasonable efforts to obtain a
repeat capillary blood specimen from the transfused infant and submit it to the
laboratory according to the following schedule:
(a)
Seventy-two (72) hours after last blood transfusion, rescreen for inborn errors
of metabolism and inherited and congenital disorders and conditions listed in Sections[Section]
2 and 3 of this administrative regulation; and
(b)
Ninety (90) days after last blood transfusion, rescreen for any disorder that
relies on red blood cell analysis such as hemoglobinopathies, galactosemia, and
biotinidase deficiency.
Section
8.[7.] Reporting Results of Newborn Screening Blood Tests. (1)
Normal Results. Upon receipt of normal lab results, the laboratory shall mail
results to the primary care provider and the submitter.
(2)
Abnormal Results.
(a)
Submitters and primary care providers shall receive a copy of all abnormal,
presumptive positive, and equivocal results by mail.
(b)
In addition to receiving mailed results, primary care providers shall be notified
of abnormal, presumptive positive, and equivocal results in the following
manner:
1.
Upon receipt of an abnormal, equivocal, or a presumptive positive lab result,
the
laboratory shall notify the primary care provider listed on the filter paper
specimen card within two (2) business days of the result and the need for
follow-up testing.
2.
Upon receipt of a presumptive positive lab result, the program shall notify the
primary care provider listed on the filter paper specimen card of the result
and recommend immediate consultation with a university pediatric specialist.
3.
If the program is unable to determine the infant’s primary care provider to
notify them of abnormal, presumptive positive, or equivocal results and the
need for follow-up, the program shall use every available means to notify the
infant's parent.
(c)
The Cabinet for Health and Family Services shall share pertinent test results
with state university-based specialty clinics or primary care providers who
inform the cabinet they are treating the infant who received the test.
(d)
The cabinet may share pertinent test results with the local health department
in the infant's county of residence that conducts newborn screening follow-up
activities.
(e)
These specialty clinics or primary care providers shall report results of
diagnostic testing to the program within thirty (30) days or earlier upon
request.
(f)
The laboratory shall report abnormal, presumptive positive, or equivocal
results of tests for inborn errors of metabolism, inherited and congenital
disorders and conditions to the program.
(g)
If a requested repeat specimen has not been received within ten (10) business
days from the date the repeat request was issued, the program shall notify the
parent by mail of the need for a repeat screening test.
Section
9.[8.] Pulse oximetry screening for critical congenital heart
disease. Pulse oximetry screening for critical congenital heart defects
required by Section 2 of this administrative regulation shall be consistent
with the standard of care according to national recommendations by the American
Academy of Pediatrics.
Section
10.[9.] Pulse Oximetry Screening Process. (1) Except as provided
by KRS 214.155(3) and subsections (2) and (4) of this section, pulse oximetry
testing shall be performed when the infant is between twenty-four (24) and
forty-eight (48) hours of age and shall occur no later than the day of
discharge.
(2)
If the infant is discharged prior to twenty-four (24) hours of age, the blood
spot and pulse oximetry testing shall be performed as close to twenty-four (24)
hours of age as possible.
(3)
Infants in neonatal intensive care units shall be screened when medically
appropriate after twenty-four (24) hours of age but prior to discharge.
(4)
Infants who have been identified with critical congenital heart disease prior
to birth or prior to twenty-four (24) hours of age shall be exempt from the
pulse oximetry screening process.
(5)
Pulse oximetry screening shall be performed by placing pediatric pulse oximetry
sensors simultaneously on the infant’s right hand and either foot to obtain
oxygen saturation results.
(6)
If using a single pediatric pulse oximetry sensor, pulse oximetry screening
shall be performed on the infant’s right hand and either foot, one after the
other, to obtain oxygen saturation results.
Section
11.[10.] Pulse Oximetry Testing Results. (1) A passed result
shall not require further action if:
(a)
The pulse oximetry reading in both extremities is greater than or equal to
ninety-five (95) percent; and
(b)
The difference between the readings of both the upper and lower extremity is
less than or equal to three (3) percent.
(2)(a)
A pending result shall:
1.
Occur if:
a.
The pulse oximetry reading is between ninety (90) and ninety-four (94) percent;
or
b.
The difference between the readings of both the upper and lower extremity is
greater than three (3) percent; and
2.
Be repeated using the pulse oximetry screening in one (1) hour.
(b)
If a repeated pulse oximetry screen is also interpreted as pending, it shall be
performed again in one (1) hour.
(c)
If the pulse oximetry result on the third screen continues to meet the criteria
as pending after three (3) screenings have been performed, it shall be
considered failed and the procedures established in subsection (3) of this
section shall be followed.
(3)
A failed result shall occur if the initial pulse oximetry reading is less than
ninety (90) percent in the upper or lower extremity and shall require the
following action:
(a)
The primary care provider shall be notified immediately;
(b)
The infant shall be evaluated for the cause of the low saturation reading; and
(c)
If CCHD cannot be ruled out as the cause of the low saturation reading, the
attending physician or advanced practice registered nurse shall:
1.
Order a diagnostic echocardiogram to be performed without delay;
2.
Ensure the diagnostic echocardiogram be interpreted as soon as possible; and
3.
If the diagnostic echocardiogram results are abnormal, obtain a consultation
with a pediatric cardiologist prior to hospital discharge.
Section
12.[11.] Reporting Results of Pulse Oximetry Screening. (1) Final
results of the pulse oximetry screening shall be entered into the cabinet’s
web-based system.
(2)
A failed result shall be immediately reported to the program by fax or by the
cabinet's web-based system.
Section
13.[12.] Newborn Screening Fees. (1) Submitters obtaining and
sending a blood spot specimen to the laboratory shall be billed a fee of $123[ninety-nine
(99) dollars] for the initial newborn screening test.
(2)
Submitters obtaining and sending a repeat blood spot specimen to the laboratory
shall not be charged an additional fee[of ninety-nine (99) dollars].
(3)
Fees due the Cabinet for Health and Family Services shall be collected through
a monthly billing system.
STEPHANIE MAYFIELD GIBSON, MD, FCAP, Commissioner
AUDREY TAYSE HAYNES, Secretary
APPROVED BY AGENCY: October 8, 2015
FILED WITH LRC: October 14, 2015 at 1 p.m.
PUBLIC HEARING AND PUBLIC COMMENT PERIOD: A public
hearing on this administrative regulation shall, if requested, be held on November
23, 2015, at 9:00 a.m. in the Health Services Auditorium, Health Services
Building, First Floor, 275 East Main Street, Frankfort, Kentucky. Individuals
interested in attending this hearing shall notify this agency in writing by November
16, 2015, five (5) workdays prior to the hearing, of their intent to attend. If
no notification of intent to attend the hearing is received by that date, the
hearing may be canceled. The hearing is open to the public. Any person who
attends will be given an opportunity to comment on the proposed administrative
regulation. A transcript of the public hearing will not be made unless a
written request for a transcript is made. If you do not wish to attend the
public hearing, you may submit written comments on the proposed administrative
regulation. You may submit written comments regarding this proposed
administrative regulation until November 30, 2015. Send written notification of
intent to attend the public hearing or written comments on the proposed
administrative regulation to:
CONTACT PERSON: Tricia Orme, Office of Legal
Services, 275 East Main Street 5 W-B, Frankfort, Kentucky 40602, phone 502-564-7905,
fax 502-564-7573, email Tricia.Orme@ky.gov.
REGULATORY IMPACT ANALYSIS AND
TIERING STATEMENT
Contact Person: Laura Begin
(1) Provide a brief summary of:
(a) What this administrative regulation does: This administrative regulation requires that all
infants born in Kentucky receive the newborn screening test. It requires that
infants be tested for inborn errors of metabolism and other inherited and
congenital disorders and conditions as specified in KRS 214.155, establishes
how tests are to be performed and results reported, and establishes the
schedule of fees to cover actual costs of the newborn screening program.
(b) The necessity of this administrative
regulation: This administrative regulation
improves outcomes for Kentucky’s infants by ensuring testing for inborn errors
of metabolism and other inherited and congenital disorders and conditions so
that they may be diagnosed and potentially treated. KRS 214.155 requires the
Cabinet for Health and Family Services to operate this screening program.
(c) How this administrative regulation conforms to
the content of the authorizing statutes: KRS 194A.050(1) requires the Secretary
of the Cabinet for Health and Family Services to adopt administrative
regulations necessary to protect the health of the individual citizens of the
Commonwealth and necessary to operate the programs and fulfill the
responsibilities vested in the Cabinet. KRS 214.155 requires the Cabinet to operate the
newborn screening program for heritable and congenital disorders. The disorders listed in this administrative regulation
are consistent with the recommendations of the American College of Medical
Genetics, as required by KRS 214.155, except for the addition of Krabbe
Disease, which is required by Senate Bill 75 of the 2015 regular legislative session.
Krabbe Disease is not currently federally recommended to be part of the newborn
screening program by the U.S. Department of Health and Human Services, in part,
because of unreliable testing. New York’s experience screening for Krabbe
Disease in the first five years of testing indicates only an 8% positive
predictive value (of 25 babies that screened positive, only two developed
symptoms). The disease is also not federally recommended because of the
controversial follow-up for a positive diagnosis. The only potentially
effective treatment is hematopoietic cell transplant usually using umbilical
cord blood. Studies show the patient may benefit from an early hematopoietic
stem cell transplant; however, the mortality rate afterwards is 5-10% and 10%
of patients develop severe graft-versus-host disease (Lantos, John D. "Dangerous
and expensive screening and treatment for rare childhood diseases: the case of
Krabbe disease." Developmental Disabilities Research Reviews 17(1),
(2011): 15-18). The Division of Laboratory Services does not presently have the
resources in-house to test for this disorder, resulting in: a fee to ship the blood
spots to Mayo Medical Laboratories for Krabbe testing, the cost of a full-time
employee to process the specimens and receive and issue test reports, and
expanded follow-up in the Newborn Screening Program to contract with
universities for further testing.
(d) How this administrative regulation currently
assists or will assist in the effective administration of the statutes: KRS 214.55 requires the Cabinet for Health and Family
Services to operate a newborn screening program for inborn errors of metabolism
and other inherited and congenital disorders and conditions. The specific tests
on the newborn screening panel are consistent with the recommendations of the
American College of Medical Genetics as required by statute, except for the
addition of Krabbe Disease which is required as a result of 15 RS Senate Bill
75. This administrative regulation details the process and procedures for
compliance with the statute and sets up a fee schedule to cover program costs,
as required by statute.
(2) If this is an amendment to an existing
administrative regulation, provide a brief summary of:
(a) How the amendment will change this existing
administrative regulation: The Secretary
of the U.S. Department of Health and Human Services has modified the
Recommended Uniform Screening Panel (RUSP) to include glycogen storage disease
type II (Pompe Disease) and mucopolysaccharidosis type I (Hurler’s Disease). These
disorders are being added to make the Department for Public Health newborn
screening panel consistent with federal recommendations. This administrative
regulation is also being amended to add Krabbe Disease to the list of disorders,
as required by Senate Bill 75 enacted by the 2015 General Assembly, although as
mentioned previously this disorder is not
federally recommended to be part of the newborn screening program because of
unreliable testing and because of the controversial follow-up for a positive
diagnosis. The only potentially effective treatment to date is hematopoietic
cell transplant usually using umbilical cord blood. Studies show the patient
may benefit from an early hematopoietic stem cell transplant; however, the
mortality rate afterwards is 5-10% and 10% of patients develop severe
graft-versus-host disease. The Division of Laboratory Services does not have
the resources in-house to test for this disorder, resulting in: a fee to ship
the blood spots to Mayo Medical Laboratories for Krabbe testing, the cost of a
full-time employee to process the specimens and receive and issue test reports,
and expanded follow-up in the Newborn Screening Program, which tracks positive diagnoses and contracts further
testing with universities.
(b) The necessity of the amendment to this
administrative regulation: The 2015 Regular Session enacted Senate Bill 75,
which added Krabbe Disease to the panel of diseases to be screened for in
newborns. To complete this testing, the newborn screening fee must be increased
to cover the associated costs of implementation.
(c) How the amendment conforms to the content of
the authorizing statutes: This administrative regulation must be consistent
with KRS 214.155, which was amended to include Krabbe Disease during the 2015
Regular Session.
(d) How the amendment will assist in the effective
administration of the statutes: Once this amendment is effective, Kentucky
newborns will be screened for Krabbe Disease, which is conservatively estimated
to be present in 1 in 100,000 individuals.
(3) List the type and number of individuals,
businesses, organizations, or state and local governments affected by this
administrative regulation: There are
approximately 60,000 newborns in Kentucky every year. As a result of Senate
Bill 75, the Division of Laboratory Services will ship blood spots to Mayo
Medical Laboratories for testing and Mayo Clinic will return the results to the
Division. To pay for this processing and testing, informational materials for
parents, follow-up tracking, and contracts with universities for further
testing pursuant to KRS 214.155, hospitals or other entities submitting newborn
blood spots for testing will be required to pay an additional $24.00 per child
(4)
Provide an analysis of how the entities identified in question (3) will be
impacted by either the implementation of this administrative regulation, if
new, or by the change, if it is an amendment, including:
(a)
List the actions that each of the regulated entities identified in questions
(3) will have to take to comply with this administrative regulation or
amendment: The Division of Laboratory Services will have to ship newborn blood spots
to Mayo Medical Laboratories. This will require the employment of one full time
employee to process and ship the blood spots, receive them back, and report the
test results plus the expansion of the Newborn Screening Program which
contracts with universities to confirm diagnoses and ensure specialist care for
positive diagnoses. To pay for all this, pursuant to KRS 214.155, submitters
will be required to pay an additional $24.00 fee.
(b)
In complying with this administrative regulation or amendment, how much will it
cost each of the identities identified in question (3): The addition of Krabbe
Disease to the panel of diseases screened for will cost the Division of
Laboratory Services $20.00 per blood spot to have them delivered to Mayo
Medical Laboratories, tested (possibly re-tested), and results reported. The
Division has estimated it will cost the state $2.00 per blood spot to cover the
costs to handle and process the blood spots, report the test results, provide
informational materials to parents, and track diagnoses; and $2.00 for contracts
with the University of Kentucky and the University of Louisville for follow-up testing
of positive diagnoses (the two university contracts will be increased by
$50,000 each). Therefore, blood spot submitters will be charged an additional
$24.00 per sample to cover this cost. This cost will likely be borne primarily
by insurers or individuals if they have no health insurance.
(c)
As a result of compliance, what benefits will accrue to the entities identified
in question (3): The estimated 60,000 newborns in Kentucky per year will be
tested for Krabbe Disease. Pompe Disease and Hurler’s Disease are also being
added to the screening panel in this administrative regulation in order to be
consistent with disorders included on the RUSP. If a newborn is diagnosed with
Krabbe Disease, as is expected in about one out of every 100,000 individuals, the
Newborn Screening Program contracts with universities for testing confirmation
and the contacting of a specialist for the disorder positively diagnosed. For
Krabbe Disease, the parents may elect for their child to receive further testing
and may consider the controversial stem cell transplant treatment. In the first 5 years of its program, New York’s screening
of Krabbe Disease produced an 8% positive predictive value (of 25 babies that
screened positive, only two developed symptoms). The only potentially effective
treatment is hematopoietic cell transplant usually using umbilical cord blood. Studies
show the diseased may benefit from an early hematopoietic stem cell transplant;
however, the mortality rate afterwards is 5-10% and 10% of patients develop
severe graft-versus-host disease (Lantos, John D. "Dangerous and expensive
screening and treatment for rare childhood diseases: the case of Krabbe
disease." Developmental Disabilities Research Reviews 17(1),
(2011): 15-18).
(5)
Provide an estimate of how much it will cost the administrative body to
implement this administrative regulation:
(a)
Initially: It is estimated to cost the Cabinet $24.00 per blood spot to be
screened and tracked. Pursuant to KRS 214.155, this cost is being passed on to
the blood spot submitter.
(b)
On a continuing basis: $24.00 per blood spot to be screened, with approximately
60,000 blood spots per year.
(6)
What is the source of the funding to be used for the implementation and
enforcement of this administrative regulation: The Cabinet does not presently have
the resources to test for Krabbe Disease, so dried blood spots will be shipped
to the Mayo Medical Laboratories and tested there for $20.00. This fee plus an
additional $4.00 per child for Cabinet processing, reporting, and follow-up of
positive diagnoses is being passed on to blood spot submitters pursuant to KRS
214.155.
(7)
Provide an assessment of whether an increase in fees or funding will be
necessary to implement this administrative regulation, if new or by the change,
if it is an amendment: This amendment includes a fee increase, resulting from
2015 Regular Session legislation. Senate Bill 75 added Krabbe Disease to KRS
214.155, requiring it to be added to the list of disorders screened for in
Kentucky newborns. The Division of Laboratory Services presently does not have
the resources for screening this disease, so dried blood spots will be sent to
the Mayo Medical Laboratories. This fee covers the cost of the testing being
done at the Mayo Medical Laboratories, processing and handling the samples, and
the expansion of the Newborn Screening Program.
(8)
State whether or not this administrative regulation established any fees or
directly or indirectly increased any fees. This amendment includes a fee increase,
resulting from 2015 Regular Session legislation. Senate Bill 75 added Krabbe
Disease to KRS 214.155, requiring it to be added to the list of disorders
screened for in Kentucky newborns. The Division of Laboratory Services does not
have the resources for screening this disease, therefore blood spots will be
sent to the Mayo Medical Laboratories. This fee covers the cost of the testing
being done at the Mayo Medical Laboratories, processing and handling the
samples, and the expansion of the Newborn Screening Program.
(9)
TIERING: Is tiering applied? No. All blood spot submitters (such as hospitals) are
subject to this administrative regulation.
FISCAL NOTE ON STATE OR LOCAL
GOVERNMENT
1. What units, parts or divisions of state or
local government (including cities, counties, fire departments, or school
districts) will be impacted by this administrative regulation? The Kentucky Division
of Laboratory Services is required to screen newborn blood spots for Krabbe
Disease as a result of 2015 legislation (Senate Bill 75). This screening plus
the follow-up performed by the Department for Public Health will cost
approximately $24.00 per blood spot, with approximately 60,000 blood spots per
year.
2. Identify each state or federal statute or
federal regulation that requires or authorizes the action taken by the
administrative regulation. KRS 194A.050(1) requires the Secretary of the
Cabinet for Health and Family Services to adopt administrative regulations
necessary to protect the health of the individual citizens of the Commonwealth
and necessary to operate the programs and fulfill the responsibilities vested
in the Cabinet. KRS 214.155 requires the Cabinet to operate the newborn screening program
for heritable and congenital disorders. The disorders listed in this administrative regulation are consistent
with the recommendations of the American College of Medical Genetics as
required by statute, except for the addition of Krabbe Disease, which is
required by Senate Bill 75 of the 2015 Regular Session.
3. Estimate the effect of this administrative regulation
on the expenditures and revenues of a state or local government agency
(including cities, counties, fire departments, or school districts) for the
first full year the administrative regulation is to be in effect.
(a) How much revenue will this administrative
regulation generate for the state or local government (including cities,
counties, fire departments, or school districts) for the first year? This
administrative regulation will generate approximately $7 million, which will
cover the cost of the Newborn Screening Program, as required by KRS 214.155.
(b) How much revenue will this administrative
regulation generate for the state or local government (including cities,
counties, fire departments, or school districts) for subsequent years? This
administrative regulation will generate approximately $7 million per year,
which will cover the cost of the Newborn Screening Program, as required by KRS
214.155.
(c) How much will it cost to administer this
program for the first year? This amendment to screen blood spots for Krabbe
Disease will cost $24.00 per blood spot, with approximately 60,000 samples per
year. The program costs approximately $7 million per year. This cost is being
passed to blood spot submitters (such as hospitals) by increasing the newborn
screening fee included in this amendment.
(d) How much will it cost to administer this
program for subsequent years? This entire program
costs approximately $7 million per year. Blood spot submitters (such as
hospitals) pay for this program.
Note: If specific dollar estimates cannot be
determined, provide a brief narrative to explain the fiscal impact of the
administrative regulation.
Revenues (+/-):
Expenditures (+/-):
Other Explanation:
