HLT-49-06-00005-E Expansion of the New York State Newborn Screening Panel
2/14/07 N.Y. St. Reg. HLT-49-06-00005-E
NEW YORK STATE REGISTER
VOLUME XXIX, ISSUE 7
February 14, 2007
RULE MAKING ACTIVITIES
DEPARTMENT OF HEALTH
EMERGENCY RULE MAKING
I.D No. HLT-49-06-00005-E
Filing No. 145
Filing Date. Jan. 30, 2007
Effective Date. Jan. 30, 2007
Expansion of the New York State Newborn Screening Panel
PURSUANT TO THE PROVISIONS OF THE State Administrative Procedure Act, NOTICE is hereby given of the following action:
Action taken:
Amendment of sections 69-1.2 and 69-1.3 of Title 10 NYCRR.
Statutory authority:
Public Health Law, section 2500-a
Finding of necessity for emergency rule:
Preservation of public health.
Specific reasons underlying the finding of necessity:
New York State Public Health Law Section 2500-a authorizes the Commissioner of Health to designate additional diseases or conditions for inclusion in the Newborn Screening Program test panel by regulation. This regulatory amendment adds one condition—galactosylceramidase deficiency, or Krabbe disease, a lipid storage disorder—to the 43 genetic/congenital disorders and one infectious disease that comprise New York State's newborn screening test panel, pursuant to existing 10 NYCRR Section 69-1.2. The Department of Health finds that immediate adoption of this rule is necessary to preserve the public health, safety and general welfare, and that compliance with State Administrative Procedure Act (SAPA) Section 202(1) requirements for this rulemaking would be contrary to the public interest and welfare.
Immediate implementation of the proposed screening for Krabbe disease is both feasible and obligatory at this time. A laboratory test method was recently reported in the medical literature as being capable of detecting Krabbe disease using a dried blood spot specimen (i.e., the typical newborn screening sample). Through pilot testing using residual newborn screening specimens stripped of all identifiers, the Department's Wadsworth Center Newborn Screening Program has determined that a scaled-up version of the recently developed test method could reproducibly generate reliable results for the large number of newborn specimens accepted by the Program. The required instrumentation (i.e., tandem mass spectrometers) is already in operation at the Department's Wadsworth Center laboratory dedicated to newborn screening. A system for follow-up and ensuring access to necessary treatment for identified infants is fully established and adequately staffed. Now that the Program is technically proficient in tandem mass spectrometry testing, experienced in spectrometric data collection and interpretation, and has demonstrated proficiency in triage and referral procedures, failure to include Krabbe disease testing immediately would mean infants would go untested, undetected, and may thus suffer irreversible nerve damage and an early death.
Affected infants typically succumb to Krabbe disease by two to five years of age after an agonizing clinical course. Newborns with Krabbe disease appear normal for the first few months of life, but manifest extreme irritability, spasticity, and developmental delay before six months of age. Without newborn screening, a child may not be recognized with Krabbe disease until he/she develops clinical signs and symptoms. Early detection through screening is critical to successful treatment of Krabbe disease with transplanted donor stem cells. The urgency of the Department's decision to avoid further delays in screening for Krabbe disease was underscored by recent clinical trial findings, published in the New England Journal of Medicine in May 2005, which concluded, “Transplantation of umbilical cord-blood from unrelated donors in newborns with infantile Krabbe's disease favorably altered the natural history of the disease. Transplantation in babies after symptoms had developed did not result in substantive neurologic improvement.”
To avoid unnecessary and potential medically detrimental delays in screening newborns for Krabbe disease, the amended regulatory language in 10 NYCRR Section 69-1.2 is hereby adopted by emergency promulgation.
Subject:
Expansion of the New York State Newborn Screening Panel.
Purpose:
To add Krabbe disease to the New York State Newborn Screening Panel and clarify the requirement for timely specimen transfer.
Text of emergency rule:
Section 69-1.2 of Subpart 69-1 is amended as follows:
Section 69-1.2 Diseases and conditions tested. (a) Unless a specific exemption is granted by the State Commissioner of Health, the testing required by section 2500-a and section 2500-f of the Public Health Law shall be performed by the testing laboratory according to recognized clinical laboratory procedures.
(b) Diseases and conditions to be tested for shall include:
argininemia (ARG);
argininosuccinic acidemia (ASA);
biotinidase deficiency;
branched-chain ketonuria, also known as maple syrup urine disease (MSUD);
carnitine palmitoyl transferase Ia deficiency (CPT-IA);
carnitine palmitoyl transferase II deficiency (CPT-II);
very long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Subdivisions (a) and (g) of Section 69-1.3 are amended as follows:
Section 69-1.3 Responsibilities of the chief executive officer. The chief executive officer shall ensure that a satisfactory specimen is submitted to the testing laboratory for each newborn born in the hospital, or admitted to the hospital within the first twenty-eight (28) days of life from whom no specimen has been previously collected, and that the following procedures are carried out:
(a) The infant's parent is informed of the purpose and need for newborn screening, and given newborn screening educational materials provided by the testing laboratory.
* * *
(g) All specimens shall be allowed to air dry thoroughly on a flat nonabsorbent surface for a minimum of four (4) hours prior to [transmittal] forwarding to the testing laboratory. All specimens shall be forwarded to the testing laboratory within twenty-four (24) hours of collection [by first class mail] using the testing laboratory's delivery service or [its] an equivalent arrangement designed to ensure delivery of specimens to the testing laboratory no later than forty-eight (48) hours after collection.
This notice is intended
to serve only as a notice of emergency adoption. This agency intends to adopt the provisions of this emergency rule as a permanent rule, having previously published a notice of proposed rule making, I.D. No. HLT-49-06-00005-P, Issue of December 6, 2006. The emergency rule will expire March 30, 2007.
Text of emergency rule and any required statements and analyses may be obtained from:
William Johnson, Department of Health, Division of Legal Affairs, Office of Regulatory Reform, Corning Tower, Rm. 2415, Empire State Plaza, Albany, NY 12237, (518) 473-7488, fax: (518) 486-4834, e-mail: regsqna@health.state.ny.us
Summary of Regulatory Impact Statement
Statutory Authority:
Public Health Law (PHL) Section 2500-a (a) provides statutory authority for the Commissioner of Health to designate in regulation diseases or conditions for newborn testing, in accordance to the Department's mandate to prevent infant and child mortality, morbidity, and diseases and disorders of childhood.
Legislative Objectives:
This proposal, which would add one condition—galactosylceramidase deficiency, or Krabbe disease—to the list of 43 genetic/congenital disorders and one infectious disease currently in regulation, is in keeping with the Legislature's public health aims of early identification and timely medical intervention for all the State's youngest citizens.
Needs and Benefits:
Data compiled from New York State's Newborn Screening Program (“Program”) and other states' programs have shown that timely intervention and treatment for metabolic disorders can drastically improve affected infants' survival chances and quality of life. For Krabbe disease, early detection through screening is critical to successful treatment.
Krabbe disease is a lipid storage disorder caused by a deficiency of the enzyme galactosylceramidase; it occurs with an incidence of approximately one in 100,000 births.
Affected infants typically succumb to Krabbe disease by two to five years of age after an agonizing clinical course. Newborns appear normal for the first few months of life but manifest extreme irritability, spasticity, and developmental delay before six months of age. Regression in psychomotor development results in feeding difficulties and marked hypertonicity, and eventually progresses to loss of voluntary movement. The infants become deaf and blind, and are prone to pneumonia and other infections; death from infection is common. However, Krabbe disease can be treated if detected early. Treatment is primarily by hematopoietic stem cell transplant using donor cord blood samples. Without newborn screening, a child may not be recognized as having Krabbe disease until he/she develops clinical signs and symptoms.
Costs:
Costs to Private Regulated Parties:
Birthing facilities will incur no new costs related to collection and submission of newborn blood specimens to the Program, since the same dried blood spot specimens now collected and forwarded to the Program for other currently available testing would also be tested for Krabbe disease. Starting in 2005, the Department began to offer free-of-cost delivery services to deter birthing facilities from bundling specimens to save postage costs, and encourage timely shipment of individual newborn specimens; birthing facilities do not incur postage or other delivery costs for the pre-paid delivery service.
The Program estimates that 150 to 200 newborns would screen positive for the new condition annually. Since timing is crucial, i.e., treatment must be started early to be effective, newborns that screen positive—those with low activity of the affected enzyme, galactosylceramidase, as measured in the dried blood spot specimen—will undergo DNA-based molecular analysis, using the same specimen submitted for the initial enzyme test. Infants determined to carry mutations associated with Krabbe disease will require a confirmatory test that measures enzyme activity using a liquid blood specimen. Positive screening results are expected to be confirmed in an estimated 10 to 50 percent of infants who undergo the confirmatory enzyme activity testing. These 15 to 100 infants will be referred for additional diagnostic workup, including: a measurement of protein in spinal fluid; a brain stem evoked auditory response (BAER) test; and magnetic resonance imaging (MRI) to assess white matter in the brain. Results from the entire battery of tests will be reviewed by an advisory committee to the Department, comprised of experts in metabolic disorders and Krabbe disease detection and treatment, and representing facilities with a role in ensuring successful implementation of this proposal. If an infant is determined to be afflicted with Krabbe disease, a pre-established communications system will be activated, and plans for treatment begun immediately. The Department anticipates that more than 95 percent of referred infants will ultimately be found not to be afflicted with Krabbe disease, based on laboratory test and clinical assessment data.
Specialized care centers (i.e., medical centers with facilities for, and staff expert in, diagnosis and treatment of inherited metabolic diseases), local hospitals designated by such centers, and pediatricians in private practice would likely incur minimal costs related to fulfilling their responsibilities for specimen collection to perform additional laboratory testing and referral of screening-positive infants for diagnostic services; such costs would be limited to human resources costs of approximately 0.5 person-hour. Specialized care centers, and to a lesser extent local hospitals and independent providers, will incur additional human resources costs for supplying diagnostic and treatment services, and ongoing medical management to the approximately two to ten infants per year whose disorder is confirmed. Costs of laboratory testing for infants who screen positive for Krabbe disease include an estimated $200 for confirmatory enzyme analysis; and, for infants whose results are confirmed, another $50 for measurement of protein in the infant's spinal fluid, as well as the provider's charge for a lumbar puncture.
For infants with a confirmed diagnosis of Krabbe disease, costs would also be incurred for required clinical services and procedures, including: medical and consultative services rendered by a neurologist, a developmental pediatrician and a hematologist with expertise in stem cell transplantation; HLA typing and chemotherapy; MRI testing to monitor the affected infant's brain post-transplant; and genetic counseling for the family. The actual total cost of all requisite services and procedures to evaluate and treat a newborn with Krabbe disease cannot be assessed more exactly due to the large variations in charges for the professional component of specialists' and ancillary providers' services, and the scope of required services, including the length of time required for hospitalization.
The Department expects that costs of medical services and supplies will be reimbursed by all payor mechanisms now covering the care of children identified with conditions in the current newborn screening panel. The Department also expects that medical care providers will claim reimbursement from payors at a rate equal to the usual and customary charge, thereby recouping costs.
Costs for Implementation and Administration of the Rule:
Costs to State Government:
Although funding for the State's Newborn Screening Program requires State expenditures, proactively treating congenital abnormalities ultimately may result in savings by precluding the need for more financially burdensome medical and institutional services.
State-operated facilities providing birthing services, and infant follow-up and medical care would incur costs and savings as described above for regulated parties. The Medicaid Program would also experience costs equal to the 25-percent State share for treatment and medical care of affected Medicaid-eligible children. Medicaid would also benefit from cost savings, since early diagnosis would avoid medical complications, thereby reducing the average length of hospital stays and the need for expensive high-technology health care services.
Costs to the Department:
Costs incurred by the Department's Wadsworth Center for performing newborn screening tests, providing short- and long-term follow-up, and supporting continuing research in neonatal and genetic diseases are covered by State budget appropriations recently augmented by dedicated line-item funding for Program expansion. Starting in 2005, the Department assumed the costs of specimen submission by making a pre-paid delivery service available to birthing facilities. The Program's budget includes $90,000 for specimen delivery services; however, no part of the expenditure for these services is a direct result of this amendment.
The Program expects to sustain minimal to no additional laboratory instrumentation costs related to this proposal, since the necessary technology is already in place. A system for follow-up and assured access to necessary treatment for identified infants is fully established. No additional staff would be required as a result of this proposal.
The Department will incur costs, estimated at from $3,800 to $4,000 annually, to provide specimen collection kits, including materials and postage, to pediatricians for collecting liquid blood specimens from an estimated 200 presumptive-positive infants, and forwarding the specimens by overnight courier for confirmatory testing at one or more laboratories approved by the Department.
Costs to Local Government:
Local government-operated facilities providing birthing services, and infant follow-up and medical care, would incur the costs and savings described above for private regulated parties. County governments would also assume costs equal to the 25-percent county share for treatment and medical care of affected Medicaid-eligible children, and thus realize cost savings as described above for State-operated facilities.
Local Government Mandates:
The proposed regulations impose no new mandates on any county, city, town or village government; or school, fire or other special district, unless a county, city, town or village government; or school, fire or other special district operates a facility, such as a hospital, caring for infants 28 days of age or under, and, therefore, is subject to these regulations to the same extent as a private regulated party.
Paperwork:
No increase in paperwork would be attributable to activities related to specimen collection, and reporting and filing of test results, as the number and type of forms now used for these purposes will not change. Facilities that submit newborn specimens will sustain minimal to no increases in paperwork, specifically, only that necessary to conduct and document follow-up and/or referral activities.
Duplication:
These rules do not duplicate any other law, rule or regulation.
Alternatives:
Potential delays in detection of Krabbe disease until onset of clinical signs and symptoms would result in increased infant morbidity and mortality, and are therefore unacceptable. Given the strong indications that treatment is available to ameliorate adverse clinical outcomes in affected infants, the Department has determined that there are no alternatives to mandating newborn screening for this condition.
Federal Standards:
There are no existing federal standards for medical screening of newborns.
Compliance Schedule:
The director of the Newborn Screening Program has participated in discussions with representatives of the Governor's Office, the Health Commissioner's Office and the Department's Public Affairs Group to optimize coordinated notification of affected parties and implementation of this single additional test into the newborn screening program. Educational materials for parents and health care professionals have been updated with information on the expanded screening panel. The Program is collaborating with various Department offices, including the Office of Medicaid Management and the Office of Managed Care, to ensure adequate reimbursement and coverage inclusiveness for required follow-up services, including confirmatory and diagnostic testing, treatment and monitoring.
The Department is continuing to work with the State Newborn Screening Task Force members, directors of specialty care centers, national experts in Krabbe disease diagnosis and treatment, health care professionals, and payors on ongoing assessment of the scope of needed follow-up services and their availability. On January 13, 2006, the director of the Newborn Screening Program gave an invited presentation to the Northeastern New York Organization of Nurse Executives, regarding the Department's plans for including Krabbe disease in the screening panel and the expected impact of such plans on hospitals. On January 30, 2006, participants in a conference on Krabbe disease in New York City reviewed this State's Krabbe disease testing algorithm and plans to ensure the health care infrastructure's readiness to implement this proposal. In addition to staff from several Department offices with a role in the algorithm's implementation, representatives from specialty care centers, transplant facilities, advocacy organizations, a confirmatory testing laboratory, and other interested parties also attended the conference.
Strong support for the amendment is expected from patient advocacy organizations representing affected individuals and families, as well as the medical community at large. The Commissioner of Health is expected to notify all New York State-licensed physicians of this newborn screening panel expansion. The letter will also be distributed to hospital chief executive officers (CEOs) and their designees responsible for newborn screening, as well as other affected parties. There appears to be no potential for organized opposition. Consequently, regulated parties should be able to comply with these regulations as of their effective date, upon filing a Notice of Emergency Adoption with the Secretary of State.
Regulatory Flexibility Analysis
Effect of Rule:
This proposed amendment to add one new condition—a lipid storage disorder known as galactosylceramidase deficiency, or Krabbe disease—to the list of 43 genetic/congenital disorders and one infectious disease for which every newborn in New York State must be tested, will affect hospitals; alternative birthing centers; and physician and midwifery practices operating as small businesses, or operated by local government, provided such facilities care for infants 28 days of age or under, or are required to register the birth of a child. The Department estimates that ten hospitals and one birthing center in the State meet the definition of a small business. No facility recognized as having medical expertise in clinical assessment and treatment of Krabbe disease is operated as a small business. Local government, including the New York City Health and Hospitals Corporation, operates 21 hospitals. New York State licenses 67,790 physicians and certifies 350 licensed midwives, some of whom, specifically those in private practice, operate as small businesses. It is not possible, however, to estimate the number of these medical professionals operating an affected small business, primarily because the actual number of physicians involved in delivering infants cannot be ascertained.
Compliance Requirements:
The Department expects that affected facilities, and medical practices operated as small businesses or by local governments, will experience minimal additional regulatory burdens in complying with the amendment's requirements, as functions related to mandatory newborn screening are already embedded in established policies and practices of affected institutions and individuals. Activities related to collection and submission of blood specimens to the State's Newborn Screening Program will not change, since the same newborn dried blood spot specimens now collected and mailed to the Program for other currently performed testing would also be used for the additional test proposed by this amendment. However, birthing facilities and at-home birth attendants (i.e., licensed midwives) would be required to follow up infants screening positive for Krabbe disease, and assume referral responsibility for medical evaluation and additional testing. This anticipated increased burden is expected to have a minimal effect on the ability of small businesses or local government-operated facilities to comply, as no such facility would experience an increase of more than one to two per month in the number of infants requiring referral. Therefore, the Department expects that regulated parties will be able to comply with these regulations as of their effective date, upon filing a Notice of Emergency Adoption with the Secretary of State.
Professional Services:
No need for additional professional services is anticipated. Birthing facilities' existing professional staffs are expected to be able to assume any increase in workload resulting from the Program's newborn screening for Krabbe disease and identification of screening-positive infants. Infants with positive screening tests for Krabbe disease would be referred to a facility employing a physician and other medical professionals with expertise in Krabbe disease.
Compliance Costs:
Birthing facilities operated as small businesses and by local governments, and practitioners who are small business owners (e.g., private-practicing licensed midwives who assist with at-home births) will incur no new costs related to collection and submission of blood specimens to the State Newborn Screening Program, since the same dried blood spot specimens now collected and mailed to the Program for other currently available testing would also be used for the additional test proposed by this amendment. However, such facilities, and, to a lesser extent, at-home birth attendants, would likely incur minimal costs related to following up infants screening positive for Krabbe disease, primarily because the testing proposed under this regulation is expected to result in, on average, fewer than one screening-positive infant per week at each of the 11 birthing facilities that are small businesses. Communicating the need and/or arranging referral for medical evaluation of one additional identified infant would require 0.5 person-hour, and these tasks are expected to be able to be accomplished with existing staff.
Affected small business, and government-operated hospitals and independent providers operating as a small business, such as primary and ancillary care providers (i.e., pediatricians, neurologists and hematologists), may incur additional human resources costs for supplying post-evaluation and treatment services, and ongoing medical management services to the approximately two to three screening-positive infants whose disorder is confirmed. Clinical services and procedures required for an affected infant could include: medical and consultative services rendered by a neurologist, a developmental pediatrician, and a hematologist with expertise in stem cell transplantation; a spinal tap for spinal fluid specimen collection; and genetic counseling for the family. It is unlikely that practitioners and facilities that are small businesses would incur costs related to treatment, such as costs for chemotherapy to depress the immune system prior to transplant; the transplantation procedure itself; laboratory testing; magnetic resonance imaging (MRI) to monitor the affected infant's brain post-transplant; and costs related to the infant's occupying a bed in the neonatal intensive care unit. The cost of all required services and procedures to evaluate and treat newborns with Krabbe disease born annually in New York State cannot be estimated due to large variations in charges for the professional component of specialists' and ancillary providers' services, and the scope of required services. The Department provides the following prevailing rates, so that small businesses that may become involved in treatment and ongoing care of affected infants may be better able to estimate costs: $300 for a comprehensive-level office visit; $150 for genetic counseling visits; $2,500 for imaging services; and $250 for confirmatory laboratory testing.
The Department expects that costs of medical services and supplies will be reimbursed by all payor mechanisms now covering the care of children identified with conditions in the current newborn screening panel. Payors include: indemnity health plans; managed care organizations; and New York State's medical assistance program (Medicaid), Child Health Plus, and Children with Special Health Care Needs programs.
Economic and Technological Feasibility:
The proposed regulation would present no economic or technological difficulties to any small businesses and local governments affected by this amendment.
Minimizing Adverse Impact:
The Department did not consider alternate, less stringent compliance requirements, or regulatory exceptions for facilities operated as small businesses or by local government, because of the importance of the proposed testing to statewide infant public health and welfare. These amendments will not have an adverse impact on the ability of small businesses or local governments to comply with Department requirements for mandatory newborn screening, as full compliance would require minimal enhancements to present collection, reporting, follow-up and recordkeeping practices.
Small Business and Local Government Participation:
The feasibility of adding Krabbe disease to the State's newborn screening panel has been discussed with affected parties ever since the Department began testing for a number of new conditions using tandem mass spectrometry technology. Therefore, regulated parties that are small businesses and local governments have been aware of the Department's intention to include Krabbe disease in the panel for some time.
Rural Area Flexibility Analysis
Types and Estimated Numbers of Rural Areas:
Rural areas are defined as counties with a population of fewer than 200,000 residents; and, for counties with a population larger than 200,000, rural areas are defined as towns with a population density of 150 or fewer persons per square mile. Forty-four counties in New York State with a population under 200,000 are classified as rural, and nine other counties include certain townships with a population density characteristic of rural areas.
This proposed amendment to add one new condition—galactosylceramidase deficiency or Krabbe disease, a lipid storage disorder—to the list of 43 genetic/congenital disorders and one infectious disease for which every newborn in the State must be tested, will affect hospitals, alternative birthing centers, and physician and midwifery practices located in rural areas, provided such facilities care for infants 28 days of age or under, or are required to register the birth of a child. The Department estimates that 54 hospitals and birthing centers operate in rural areas, and another 30 birthing facilities are located in counties with low-population density townships. No facility recognized as having medical expertise in clinical assessment and treatment of Krabbe disease operates in a rural area. New York State licenses 67,790 physicians and certifies 350 licensed midwives, some of whom are engaged in private practice in areas designated as rural; however, the number of professionals practicing in rural areas cannot be estimated because licensing agencies do not maintain records of licensees' employment addresses.
Reporting, Recordkeeping and Other Compliance Requirements:
The Department expects that birthing facilities and medical practices affected by this amendment and operating in rural areas will experience minimal additional regulatory burdens in complying with the amendment's requirements, as activities related to mandatory newborn screening are already part of established policies and practices of affected institutions and individuals. Collection and submission of blood specimens to the State's Newborn Screening Program will not be altered by this amendment, since the same dried blood spot specimens now collected and mailed to the Program for other currently available newborn testing would also be used for the additional test proposed by this amendment. However, birthing facilities and at-home birth attendants (i.e., licensed midwives) would be required to follow up infants screening positive for Krabbe disease, and assume referral responsibility for medical evaluation and additional testing. This requirement is expected to affect minimally the ability of rural facilities to comply, as no such facility would experience an increase of more than one to two per month in infants requiring referral. Therefore, the Department anticipates that regulated parties in rural areas will be able to comply with these regulations as of their effective date, upon filing a Notice of Emergency Adoption with the Secretary of State.
Professional Services:
No need for additional professional services is anticipated. Birthing facilities' existing professional staff are expected to be able to assume any increase in workload resulting from the Program's newborn screening for Krabbe disease and identification of screening-positive infants. Infants with a positive screening test for Krabbe disease will be referred to a facility employing a physician and other medical professionals with expertise in Krabbe disease.
Costs:
Birthing facilities operating in rural areas and practitioners in private practice in rural areas (i.e., licensed midwives who assist with at-home births) will incur no new costs related to collection and submission of blood specimens to the State's Newborn Screening Program, since the same dried blood spot specimens now collected and mailed to the Program for other currently available testing would also be used for the additional test proposed by this amendment. However, such facilities and, to a lesser extent, at-home birth attendants would likely incur minimal costs related to follow-up of infants screening positive, since the proposed added testing is expected to result in no more than one additional referral per month. Communicating the need and/or arranging referral for medical evaluation of one additional identified infant would require 0.5 person-hour, and these tasks are expected to be able to be accomplished with existing staff. The Department estimates that more than 95 percent of infants will be ultimately found not to be afflicted with the target condition, based on clinical assessment and confirmatory testing data.
Rural providers, including clinical specialists (i.e., medical geneticists) and primary and ancillary care providers (i.e., pediatricians, neurologists and hematologists), may incur additional human resources costs for providing post-evaluation and treatment services, and ongoing medical management to the approximately two to three infants per year whose disorder is confirmed. Clinical services and procedures required for an affected infant could include: medical and consultative services rendered by a neurologist, a developmental pediatrician, and a hematologist with expertise in stem cell transplantation; a spinal tap procedure for spinal fluid specimen collection; laboratory testing; and genetic counseling for the family. It is unlikely that facilities in rural areas would incur costs related to treatment, such as costs for chemotherapy to depress the immune system prior to transplant; the transplantation procedure itself; magnetic resonance imaging (MRI) to monitor the affected infant's brain post-transplant; and costs related to the infant's occupying a bed in the neonatal intensive care unit. The cost of all requisite services and procedures to evaluate and treat infants with Krabbe disease born annually in New York State cannot be estimated due to large variations in charges for the professional component of specialists' and ancillary providers' services, and the scope of requisite services, including the length of time required for hospitalization. To the extent specialized services would be delivered in a rural area, the Department provides the following prevailing rates, so that rural providers who may become involved in treatment and ongoing care of affected infants may be better able to estimate costs: $300 for a comprehensive-level office visit; $150 for genetic counseling visits; $2,500 for imaging services; and $250 for confirmatory laboratory testing.
The Department expects that costs of medical services and supplies will be reimbursed by all payor mechanisms now covering the care of children identified with conditions already in the newborn screening panel. Payors include: indemnity health plans; managed care organizations; and New York State's medical assistance program (Medicaid), Child Health Plus, and Children with Special Health Care Needs programs.
Minimizing Adverse Impact:
The Department did not consider less stringent compliance requirements or regulatory exceptions for facilities located in rural areas because of the importance of expanded testing to statewide infant public health and welfare. These amendments will not have an adverse impact on the ability of regulated parties in rural areas to comply with Department requirements for mandatory newborn screening, as full compliance would entail minimal changes to present collection, reporting, follow-up and recordkeeping practices.
Rural Area Participation:
The feasibility of adding Krabbe disease to the newborn screening panel has been discussed with affected parties ever since the Department began testing for a number of new conditions using tandem mass spectrometry technology. Therefore, regulated parties located in rural areas have been aware of the Department's intention to include Krabbe disease in the panel for some time.
Job Impact Statement
A Job Impact Statement is not required because it is apparent, from the nature and purpose of the proposed rule, that it will not have a substantial adverse impact on jobs and employment opportunities. The amendment proposes the addition of one condition—a lipid storage disorder known as Krabbe disease—to the scope of newborn screening services already provided by the Department. It is expected that no regulated parties will experience other than minimal impact on their workload, and therefore none will need to hire new personnel. Therefore, this proposed amendment carries no adverse implications for job opportunities.
