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 infantís 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 Servicesí 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, Hurlerís 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 cabinetís 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 infantís 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 facilityís 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 Cabinetís 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 infantís 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 infantís 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 infantís 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 cabinetís 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 Kentuckyís 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 Yorkís 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 (Hurlerís 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 Hurlerís 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 Yorkís 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: