The Florida Newborn Screening Program has undergone an expansion from eight to 35 disorders. As a result, the program has come into compliance with recommendations from the March of Dimes and the American College of Medical Genetics as approved by ...

DEPARTMENT OF HEALTH
Division of Children’s Medical Services

RULE NO: RULE TITLE
64C-7.001: Definitions
64C-7.002: Collection Procedures for Metabolic Screening
64C-7.0025: Procedures for Newborn Screening Referral Centers
64C-7.0026: Administration of Newborn Hearing Screening
64C-7.003: Criteria for Approved Laboratories
64C-7.004: Designated State Laboratory
64C-7.005: Reporting of Metabolic and Hereditary Disorder Screening Test Results
64C-7.006: Metabolic and Hereditary Disorder Screening Records
64C-7.007: Criteria for Designating Disorders
64C-7.012: Charging for Infant Screening Services
PURPOSE AND EFFECT: The Florida Newborn Screening Program has undergone an expansion from eight to 35 disorders. As a result, the program has come into compliance with recommendations from the March of Dimes and the American College of Medical Genetics as approved by the Genetics and Newborn Screening Advisory Council.
SUMMARY: Changes in rule reflect the disorders added to the Florida Newborn Screening Program.
SUMMARY OF STATEMENT OF ESTIMATED REGULATORY COSTS: No Statement of Estimated Regulatory Cost was prepared.
Any person who wishes to provide information regarding a statement of estimated regulatory costs, or provide a proposal for a lower cost regulatory alternative must do so in writing within 21 days of this notice.
SPECIFIC AUTHORITY: 383.14(1)(s) FS.
LAW IMPLEMENTED: 383.14 FS.
IF REQUESTED WITHIN 21 DAYS OF THE DATE OF THIS NOTICE, A HEARING WILL BE HELD AT THE DATE,TIME AND PLACE SHOWN BELOW(IF NOT REQUESTED, THIS HEARING WILL NOT BE HELD):
DATE AND TIME: Tuesday, January 29, 2008, 10:00 a.m. – 11:30 a.m.
PLACE: 4025 Esplanade Way, Room 235-M, Tallahassee, FL 32399
THE PERSON TO BE CONTACTED REGARDING THE PROPOSED RULE IS: Sherri Hood, 4052 Bald Cypress Way, Bin A06, Room 235-T, Tallahassee, FL 32399

THE FULL TEXT OF THE PROPOSED RULE IS:

64C-7.001 Definitions.

(1) “Advisory councils” means the Genetics and Newborn Infant Screening Advisory Council established by Section 383.14, F.S., and the State Coordinating Council for Early Childhood Services established by Section 411.222, F.S.

(2) “Approved laboratory” means a laboratory which meets the criteria specified in Rule 64C-7.003, F.A.C., and conforms to all other provisions of the rules governing the Infant Screening Program.

(2)(3) "Care coordination services" and "care coordination" mean Healthy Start services that link Healthy Start participants and their families with other Healthy Start services and those supports and services that complement, supplement, and assure continued participation in prenatal and infant health care as specified in Rule 64F-3.001, F.A.C.

(3) “CMS Audiologist provider” means an audiologist who has been approved by CMS.

(4) “Congenital disorder” means a disorder existing before or at birth, regardless of cause, that is designated by the department in accordance with Rule 64C-7.008, F.A.C.

(5) “Environmental risk factor” means a physical, social, or economic factor in an individual’s environment which places him or her at risk for having or developing a health or health-related problem. These would be factors such as those delineated in Section 383.14, F.S.

(6) “Healthy Start infant” means an infant, less than twelve months of age, whose parent or family agrees to participate in Healthy Start care coordination and who may be at increased risk for impairment in health, intellect, or functional ability due to environmental, medical, nutritional, behavioral, or developmental risk factors as determined by the department’s risk screening instrument as defined in subsection 64C-7.008(2), F.A.C., or as determined by factors other than the score at the time of screening or subsequent to the initial screen.

(7) “Healthy Start participant” and “participant” mean a Healthy Start pregnant or postpartum woman or Healthy Start infant as defined in this section.

(8) “Healthy Start pregnant woman” means a pregnant woman who has agreed to participate in Healthy Start care coordination and may be at increased risk of pregnancy complications or poor birth outcome due to environmental, medical, nutritional, behavioral, or developmental risk factors as determined by the department’s prenatal risk screening instrument as defined in subsection 64C-7.008(1), F.A.C., or as determined by factors other than the score at the time of screening or subsequent to the initial screen.

(9) “Healthy Start services” mean those services provided to participants that maximize access to and participation in comprehensive prenatal and infant health care such as client and participant identification (case finding), care coordination, childbirth education, parenting education and support, nutritional counseling, psychosocial counseling, smoking cessation counseling, breastfeeding education and support, and other services that optimize health and developmental outcomes and improve access to care. Home visiting is a strategy for providing Healthy Start services. In addition to the home, Healthy Start services can also be provided in the neighborhood, school, workplace, or clinic; wherever the concerns, priorities, and resources of the participant or family can best be met. Healthy Start Coalitions have the authority to determine which specific Healthy Start services will have the greatest impact on pregnancy, health and developmental outcomes in their geographic regions.

(10) “Hearing risk factors” means selected risk factors having the potential to result in late onset hearing loss.

(11) “Hearing Screening Information” means the section of the specimen card for reporting screening results including the last hearing screen date, last hearing screen results by ear, the last test method used, hearing risk factors or reason hearing was not screened.

(12)(10) “Hereditary disorder” means a particular disorder designated by the department in accordance with Rule 64C-7.007, F.A.C., that is genetically transmitted from parent to offspring.

(13)(11) “Infant (postnatal) risk screening” means the use of selected risk factors to identify infants at increased risk for mortality and morbidity, as designated in accordance with Rule 64C-7.011, F.A.C.

(14)(12) “Newborn screening Metabolic disorder” means a biochemical disorder designated by the department in accordance with Rule 64C-7.007, F.A.C., which may have pathologic consequences at birth or later in life.

(15)(13) “Newborn Metabolic screening” means a procedure requiring the use of selected laboratory criteria capable of detecting the presumptive presence of disorders designated in accordance with Rule 64C-7.007, F.A.C.

(16)(14) “Prenatal risk screening” means the use of selected risk factors to identify pregnant women at increased risk for pregnancy complications or adverse outcomes, as designated in accordance with Rule 64C-7.011, F.A.C.

(17) “Presumptive positive screening result” means an abnormal screening result with a specific value for an analyte or disorder that must be referred to a designated referral center.

(18)(15) A “Newborn Screening Referral Center regional center” is a center designated by the Florida Department of Health Children’s Medical Services Central Office to which newborns infants with presumptive positive screening results tests are referred by the department. These centers must have the professional and laboratory capabilities to confirm the diagnosis, initiate and monitor therapy, and provide counseling to the families of children with presumptive positive screening results phenylketonuria (PKU), neonatal hypothyroidism, galactosemia, and other disorders designated in accordance with Rule 64C-7.007, F.A.C.

(19)(16) “Risk factor” means an element associated with an increased risk of pregnancy complications or infant mortality and morbidity.

(20)(17) “Risk screening instrument” means a tool developed by the department containing selected risk factors in accordance with Rule 64C-7.011, F.A.C.

(21)(18) “Satisfactory blood specimen” means a dried blood spot specimen on which an accurate laboratory analysis can be performed for the disorder for which it is submitted.

(22)(19) "Scoring mechanism" means a method used to ascertain potential risk based on the risk factors contained on the risk screening instrument.

(23)(20) “Screening test” means a non-diagnostic laboratory procedure that is capable of detecting the presumptive presence of phenylketonuria, congenital neonatal hypothyroidism, galactosemia, congenital adrenal hyperplasia, hemoglobin sickle beta-thalassemia, hemoglobin sickle cell disease, sickle cell anemia, 3-methylcrotonyl-CoA carboxylase deficiency, 3-OH 3-CH3 glutaric acuduria, arginosuccinic acidemia, mitochondrial acetoacetyl-CoA thiolase (betaketothiolase) deficiency, citrullinemia, glutaric acidemia type I, homocystinuria, isovaleric acidemia, long-chain L-3-OH acyl-CoA dehydrogenase deficiency, maple syrup urine disease, medium chain acyl-CoA dehydrogenase deficiency, methylmalonic acidemia, propionic acidemia, tyrosinemia type I, very long-chain acyl-CoA dehydrogenase deficiency, carnitine/acylcarnitine translocase deficiency, carnitine palmityl transferase deficiency type I, carnitine palmityl transferase deficiency type II, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, tyrosinemia type II, biotinidase deficiency, carnitine uptake defect, methylmalonic acidemia (mutase deficiency), multiple carboxylase deficiency, trifunctional protein deficiency and cystic fibrosis, and such other designated disorders, that shall may be prescribed by the department as recommended by the American College of Medical Genetics after consultation with the appropriate Genetics and Newborn Screening Advisory Council advisory councils in accordance with Rule 64C-7.007, F.A.C.

(24)(21) “Unsatisfactory blood specimen” means any of the following:

(a) A specimen slip on which an insufficient quantity of blood is obtained.

(b) A specimen slip on which an accurate analysis or interpretation cannot be performed due to improper collection, handling, or submission or due to a technical or laboratory problem.

(c) A specimen slip which does not provide all of the information regarding the patient as required. The blood specimen within such a specimen slip may be satisfactory according to the criteria above.

Specific Authority 383.14 (2) FS. Law Implemented 383.14 FS. History–New 10-25-79, Formerly 10D-76.01, Amended 12-5-84, Formerly 10J-8.01, Amended 3-29-92, 9-20-94, 8-14-95, 3-28-96, Formerly 10J-8.001, Amended________.

 

64C-7.002 Collection Procedures for Newborn Metabolic Screening.

(1) Each live born infant shall be screened for phenylketonuria, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, hemoglobin sickle beta-thalassemia, hemoglobin sickle cell disease, sickle cell anemia, 3-methylcrotonyl-CoA carboxylase deficiency, 3-OH 3-CH3 glutaric acuduria, arginosuccinic acidemia, mitochondrial acetoacetyl-CoA thiolase (betaketothiolase) deficiency, citrullinemia, glutaric acidemia type I, homocystinuria, isovaleric acidemia, long-chain L-3-OH acyl-CoA dehydrogenase deficiency, maple syrup urine disease, medium chain acyl-CoA dehydrogenase deficiency, methylmalonic acidemia, propionic acidemia, tyrosinemia type I, very long-chain acyl-CoA dehydrogenase deficiency, carnitine/acylcarnitine translocase deficiency, carnitine palmityl transferase deficiency type I, carnitine palmityl transferase deficiency type II, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, tyrosinemia type II, biotinidase deficiency, carnitine uptake defect, methylmalonic acidemia (mutase deficiency), multiple carboxylase deficiency, trifunctional protein deficiency, and cystic fibrosis, as recommended by the American College of Medical Genetics after consultation with the Genetics and Newborn Screening Advisory Council in accordance with Rule 64C-7.007, F.A.C. and designated disorders unless the parent or guardian objects to the screening in accordance with Sections 383.14(4) and 383.145(3)(c), F.S.

(2) The infant’s blood shall be collected on a specimen slip, DOH Form 677, (Jan 93), which is incorporated by reference. The form may be obtained through the any DOH website, www.doh.state.fl.us County Health Department. The slip with blood and completed data must be inserted into the protective envelope and mailed to an approved laboratory within 24 hours after collection.

(3) An initial screening specimen The infant’s blood for these tests shall be collected not earlier than 24 hours 48 hours after birth and not before the infant has been on a protein diet for at least 24 hours, except as stated in (4), and (5), and (6), and no later than 5 days after birth.

(3)(4) When a live birth occurs in a hospital, the responsible physician must shall obtain a satisfactory blood specimen prior to the infant’s discharge from the hospital. The specimen shall be collected not earlier than 24 hours after birth and not before the infant has been on a protein diet for at least 24 hours. If the infant is discharged from the hospital before 24 hours 48 hours after birth, or before being on a protein diet for 24 hours, a blood specimen shall be collected regardless, but collection shall be repeated after 24 hours 48 hours and no later than 5 days after birth. At or before discharge, the hospital administrator or a designated representative must shall provide a written notice to the parents, guardian, or other legally responsible person of the requirements for such newborn to be tested again prior to 5 days after birth. The primary responsibility for assuring repeat testing remains with the hospital.

(4)(5) When a live birth occurs in a facility other than a licensed hospital, the professional person in attendance at the birth must shall obtain a satisfactory blood specimen prior to the infant's discharge from the facility. The specimen shall be collected not earlier than 24 hours after birth and not before the infant has been on a protein diet for at least 24 hours. If the infant is discharged from the facility before 24 hours 48 hours after birth, or before being on a protein diet for 24 hours, a blood specimen shall be collected regardless, but collection shall be repeated after 24 hours 48 hours and no later than 5 days after birth. At or before discharge, the facility administrator or a designated representative shall provide a written notice to the parents, guardian, or other legally responsible person of the requirements for such newborn to be tested again prior to 5 days after birth. The primary responsibility for assuring repeat testing remains with the facility.

(5) If a newborn requires neonatal intensive care services, the responsible physician must obtain a satisfactory blood specimen on admission to the Neonatal Intensive Care Unit (NICU), prior to any blood transfusion, and again at seven days of age or just prior to discharge from the NICU, whichever is sooner. If the newborn stays in the NICU for 21 days or longer, a third specimen shall be obtained prior to discharge. If a satisfactory blood sample is not collected prior to receiving a blood transfusion, then a repeat screening specimen must be collected 3-4 months after the last blood transfusion.

Specific Authority 383.14(2) FS. Law Implemented 383.14 FS. History–New 10-25-79, Formerly 10D-76.03, Amended 12-5-84, Formerly 10J-8.03, Amended 3-29-92, 9-20-94, 3-28-96, Formerly 10J-8.003, Amended________.

 

64C-7.0025 Procedures for Newborn Screening Referral Centers.

(1) The CMS Newborn Screening Follow-up Program shall notify the appropriate referral center of any newborn identified with a presumptive positive screening result.

(2) The referral center shall provide diagnostic and confirmatory testing for infants identified with a presumptive positive newborn screening result and provide appropriate dietary and genetic counseling and education to families concerning treatment for newborn screening disorders in accordance with Chapter 64C-7, F.A.C.

(3) The referral center shall contact the infant’s physician of record and parents or caregivers for consultation.

(4) The referral center shall provide the CMS Newborn Screening Follow-up Program with an update every 10 calendar days regarding the status of an infant until confirmation of diagnosis is made.

(5) The referral center shall provide the CMS Newborn Screening Follow-up Program with a completed case report on all infants referred with a presumptive positive screening result. Case reports must be provided to CMS within 5 calendar days following confirmation of the final diagnosis.

Specific Authority 383.14(2) FS. Law Implemented 383.14 FS. History–New_________.

 

64C-7.0026 Administration of Newborn Hearing Screening.

(1) The hospital must record the latest hearing screening results on DOH Form 677, which is incorporated by reference.

(2) Hearing screen information shall be reported one time and not repeated on multiple blood specimen cards unless reporting different results.

Specific Authority 383.14(2) FS. Law Implemented 383.14 FS. History–New_________.

 

64C-7.003 Criteria for Approved Laboratories.

Specific Authority 383.14(2) FS. Law Implemented 383.14 FS. History–New 10-25-79, Formerly 10D-76.04, Amended 12-5-84, Formerly 10J-8.04, Amended 3-29-92, 3-28-96, Formerly 10J-8.004, Repealed_________.

 

64C-7.004 Designated State Laboratory.

(1) All newborn screening laboratory tests shall be conducted by the State Public Health Laboratory tests performed by the DOH state laboratory shall be performed in a single DOH laboratory designated for that purpose, which will serve as the reference laboratory for the state.

(2) In all other respects, the DOH laboratory will comply with the “Criteria for Approved Laboratories” as stated in s. 64C-7.003, F.A.C.

Specific Authority 383.14(2) FS. Law Implemented 383.14 FS. History–New 10-25-79, Formerly 10D-76.05, Amended 12-5-84, Formerly 10J-8.05, Amended 3-29-92, Formerly 10J-8.005, Amended_________.

 

64C-7.005 Reporting of Newborn Metabolic and Hereditary Disorder Screening Test Results.

(1) Within 5 calendar 10 days after receipt of a specimen, the State Public Health Laboratory providing the analyses shall send a written report of the results of all newborn screening tests to the hospital or other facility where the birth occurred or to the submitting entity. The report of the test results shall become part of the patient’s medical clinical record.

(2) The submitting entity must forward a copy of the newborn screening results to the ordering physician.

(3)(2) If the State Public Health Laboratory laboratory determines that a specimen is unsatisfactory for testing, the Laboratory laboratory shall immediately request a repeat second specimen slip from the submitting entity responsible institution, physician, parent, or guardian. The submitting entity responsible institution or physician shall offer facilities for collecting the blood sample.

Specific Authority 383.14(2) FS. Law Implemented 383.14 FS. History–New 10-25-79, Formerly 10D-76.06, Amended 12-5-84, Formerly 10J-8.06, Amended 3-29-92, 9-20-94, 3-28-96, Formerly 10J-8.006, Amended_________.

 

64C-7.006 Newborn Metabolic and Hereditary Disorder Screening Records.

(1) The State Public Health Laboratory and Children’s Medical Services approved laboratories performing the tests shall maintain records of the results of all screening and follow up testing of Florida-born infants for these conditions for three years or in accordance with department records management procedures.

(2) The department shall maintain a confidential newborn screening registry of all abnormal screening results of every infant born in Florida for whom the diagnosis of PKU, neonatal hypothyroidism, galactosemia, or a designated disorder has been confirmed. for the purpose of service delivery, and program administration and the registry will be maintained in accordance with the department’s confidentiality requirements as stated in Rule 64F-10.008, F.A.C.

(3) Hospitals and other facilities shall provide quarterly reports to the department indicating the total number of live births in the facility and the number of newborns for whom specimens were submitted for initial screening for phenylketonuria, hypothyroidism and other designated disorders recommended by the department in consultation with the appropriate advisory councils.

Specific Authority 383.14(2) FS. Law Implemented 383.14 FS. History–New 10-25-79, Formerly 10D-76.07, Amended 12-5-84, Formerly 10J-8.07, Amended 3-29-92, Formerly 10J-8.007, Amended_________.

 

64C-7.007 Criteria for Designating Newborn Screening Disorders.

After consultation with the Genetics and Newborn Infant Screening Advisory Council, the department shall designate each metabolic, hereditary, and congenital disorder for inclusion in the Newborn Infant Screening Program. Each designated disorder shall meet all of the following criteria:

(1) The disorder is known to result in significant impairment in health, intellect, or functional ability, if not treated before clinical signs appear.

(2) The disorder can be detected using screening methods which are accepted by current medical practice.

(3) The disorder can be detected prior to the infant's becoming two weeks of age, or at the appropriate age as accepted medical practice indicates.

(4) After screening for the disorder, reasonable cost benefits can be anticipated through a comparison of tangible program costs with those medical, institutional, and special educational costs likely to be incurred by an undetected population.

Specific Authority 383.14(2) FS. Law Implemented 383.14 FS. History–New 12-5-84, Formerly 10J-8.08, Amended 3-29-92, Formerly 10J-8.008, Amended_________.

 

64C-7.012 Charging for Newborn Infant Screening Services.

(1) The fee required pursuant to Section 383.14(3)(g)1., F.S., shall be assessed July 1st of each year.

(2) The calculation required by Section 383.14(3)(g)1., F.S., shall be accomplished as follows: The amount of the fee to be charged to each licensed hospital and to each birth center will be projected by the agency based upon the number of live births recorded by the Office of Vital Statistics during the previous calendar year. Reconciliation between the number of projected live births and the actual number of live births as recorded in the Office of Vital Statistics will be done during the second quarter of each fiscal year.

(3) The fee charged will be paid in equal amounts quarterly based upon statements generated and mailed by the agency.

(4) When a licensed hospital opens an obstetrical unit, and when a birth center opens, the Department shall be notified by the hospital or birth center in writing. For those licensed hospitals and birth centers which do not have statistical data for the prior calendar year on the number of live births as recorded in the Office of Vital Statistics, the agency shall project the amount of the fee to be charged based upon the number of live births recorded in the Office of Vital Statistics by licensed hospitals and birth centers of similar size and capacity.

(5) When a licensed hospital closes its obstetrical unit, or when a birth center closes, the Department shall be notified by the hospital or birth center in writing. Upon notification, billing shall be terminated at the end of the quarter in which the facility closed and reconciliation will be done within 90 calendar days.

Specific Authority 383.14(3) FS. Law Implemented 383.14 FS. History–New 10-29-95, Amended 11-25-96, Formerly 10J-8.014, Amended_________.

NAME OF PERSON ORIGINATING PROPOSED RULE: Sherri Hood
NAME OF SUPERVISOR OR PERSON WHO APPROVED THE PROPOSED RULE: Lois Taylor
DATE PROPOSED RULE APPROVED BY AGENCY HEAD: December 20, 2007
DATE NOTICE OF PROPOSED RULE DEVELOPMENT PUBLISHED IN FAW: November 16, 2007