902 KAR 4:030. Newborn screening program

Link to law: http://www.lrc.ky.gov/kar/902/004/030reg.htm
Published: 2015

Subscribe to a Global-Regulation Premium Membership Today!

Key Benefits:

Subscribe Now
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: