PURSUANT TO THE PROVISIONS OF THE State Administrative Procedure Act, NOTICE is hereby given of the following action:
Action taken:
Amendment of section 69-1.2 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:
Advancing technology, and emerging and rising public expectations for this critical public health program demand that the panel of screening conditions be expanded through this amendment of 10 NYCRR Section 69-1.2, which would add one inherited disorder of the immune system to the scope of newborn screening services already provided by the Department’s Wadsworth Center. This regulatory amendment adds one condition – severe combined immunodeficiency (SCID) – to the 44 genetic/congenital disorders and one infectious disease that comprise New York State’s newborn screening test panel. 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.
Immediate implementation of the proposed screening for SCID is both feasible and obligatory at this time. A laboratory test method using a dried blood spot specimen was recently validated by the Department’s Newborn Screening Program. The Program has determined that a scaled-up version of the recently developed test method reproducibly generates reliable results for the large number of newborns’ specimens accepted by the Program. The required instrumentation (i.e., robots to prepare DNA and thermal cyclers to detect TRECs) is already in operation at the Department’s Wadsworth Center laboratory and dedicated to newborn screening. A system for follow-up and ensuring access to necessary treatment for identified infants is fully established and adequately staffed.
Early detection through screening is critical to successful treatment of SCID. A survey of more than 150 patients commissioned by the Immune Deficiency Foundation found that SCID patients who were diagnosed early and treated by 3.5 months showed a 91-percent survival rate; those treated after 3.5 months had a 76-percent survival rate. Average costs for a bone marrow transplant also increase significantly after the infant reaches 3.5 months of age, exceeding $300,000 because of additional complications and the need for more supportive care. Now that the Program is technically proficient in DNA technology, data collection and interpretation, and has demonstrated proficiency in triage and referral procedures, failure to include SCID screening immediately would mean infants would go untested, undetected, and may suffer serious systemic infections and even succumb to an early death. Accordingly, the Department is obligated to avoid further delays in implementing screening for SCID.
Subject:
NYS Newborn Screening Panel.
Purpose:
Adds Severe Combined Immunodeficiency (SCID) to NYS Newborn Screening Panel.
Text of emergency rule:
Pursuant to the authority vested in the Commissioner of Health by Section 2500-a of the Public Health Law, existing Section 69-1.2 of Subpart 69-1 of Title 10 (Health) of the Official Compilation of Codes, Rules and Regulations of the State of New York (NYCRR) is amended, to be effective upon filing of a Notice of Emergency Adoption with the Secretary of State, as follows:
SUBPART 69-1 TESTING FOR PHENYLKETONURIA AND OTHER DISEASES AND CONDITIONS (Statutory authority: Public Health Law, sections 2500-a and 2500-f)
Section 69-1.2(b) is amended as follows:
(b) Diseases and conditions to be tested for shall include:
argininemia (ARG);
* * * *
propionic acidemia (PA);
severe combined immunodeficiency and other inherited T-cell deficiencies (SCID)
very long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
This notice is intended
to serve only as a notice of emergency adoption. This agency intends to adopt this emergency rule as a permanent rule and will publish a notice of proposed rule making in the State Register at some future date. The emergency rule will expire September 11, 2011.
Text of rule and any required statements and analyses may be obtained from:
Katherine Ceroalo, DOH, Bureau of House Counsel, Reg. Affairs Unit, Room 2438, ESP Tower Building, Albany, NY 12237, (518) 473-7488, email: 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:
In enacting PHL Section 2500-a, the Legislature intended to promote public health through mandatory screening of New York State newborns to detect those with serious but treatable neonatal conditions and to ensure their referral for medical intervention. Emerging medical treatments and the complexity of genetic testing require periodic reassessments of the benefits of newborn screening. These reassessments ensure that the New York State's Newborn Screening Program (the NYS Program) meets the legislative intent of preventing childhood diseases and disorders by early detection. This proposal, which would modify the newborn screening panel currently in regulation by adding severe combined immunodeficiency (SCID), 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:
Severe Combined Immunodeficiency (SCID) is a primary immune deficiency, which results in the infant's failure to develop a normal immune system. The defining characteristic for SCID is a severe defect in the production and function of T-cells and/or B-cells. Affected infants are susceptible to a wide range of infections that are typically controlled by a normal immune system. If undetected and untreated, SCID typically leads to death in the first year of life. It is noteworthy that, in May of 2010, the U.S. Department of Health and Human Services (DHHS) Secretary Kathleen Sebelius added SCID to the core newborn screening panel that represents a national standard 30-test panel that states are encouraged to adopt.
The pediatric immunology community now recognizes this once-fatal disease is a disorder that can be treated and most likely cured at a reasonable cost. Early detection through screening is critical to successful treatment. Current estimates suggest that one in every 50,000 to 100,000 newborns may be affected; however, since many infants may succumb to infection before being diagnosed, the true incidence of SCID and related forms of T-cell immune deficiency may be higher. A DNA-based test for immune deficiency has been recently modified for accurate, high-throughput analyses, making possible its use for newborn screening. This test detects T-cell Receptor Gene Excision Circles or TRECs, which are produced during normal T-cell maturation but are absent or severely reduced in infants with SCID.
Immediately after confirming a SCID diagnosis, infants are started on intravenous immunoglobulins (IVIG) and antibiotics, and a donor search is initiated to perform stem cell transplant from donor bone marrow or cord blood. SCID infants and children require IVIG for as long as they lack the ability to produce antibodies - before and often for some time after a transplant. If the transplant proves not totally corrective, IVIG may be needed for life. Alternatively, enzyme replacement therapy with bovine pegademase (PEG-ADA), an injectable medication, can be used to treat the approximately 40-percent of SCID patients with a form of the disorder characterized by a deficiency of the enzyme adenosine deaminase. This treatment is typically used only when the patient is not a candidate for the more conventional bone marrow transplant treatment.
General health care costs attributable to treatment of SCID-confirmed infants, including those related to a stem cell transplant (i.e., use of a surgical suite, stays in the neonatal intensive care unit) cannot be assessed due to large variations in charges for the professional component of specialists' and ancillary providers' services, and the scope of potentially required donor-matching services. However, overall health care costs would be reduced since early diagnosis of SCID provides the opportunity for less expensive treatments, and avoids medical complications, thereby reducing the number and average length of hospital stays, and emergency and intensive care services necessary due to recurrent infections in affected children.
If a matched, related donor cannot be found or a transplant fails, infants diagnosed with SCID typically are initially treated using IVIG as an outpatient procedure. Since IVIG only replaces the missing end product, but does not correct the deficiency in antibody production, the replacement therapy usually becomes necessary for the patient's entire lifespan. The cost of lifetime IVIG replacement therapy is estimated to be approximately $600,000. Costs for enzyme replacement therapy for one form of SCID with PEG-ADA, which is designated as an orphan drug, are estimated at $3,800 per injection. PEG-ADA is administered by intramuscular injection twice weekly and once weekly after stabilization is reached, usually in one to three weeks. Costs for a transplant including a 1 year follow-up period are $300,000, while costs for an unscreened and undiagnosed child who does not receive early treatment can exceed $600,000.
Costs:
Costs to Private Regulated Parties:
Birthing facilities would incur no new costs related to collection and submission of blood specimens to the NYS Program, since the dried blood spot specimens now collected would also be tested for SCID.
The NYS Program estimates that following implementation of this proposal, 125 newborns would screen positive for SCID annually statewide, with SCID being confirmed in seven of those infants.
Birthing facilities would likely incur minimal additional costs related to fulfilling their responsibilities for referral of screen-positive infants; such costs would be limited to human resources costs for less than 0.5 person-hour. Any birthing facility can calculate its specific cost impact based on its annual number of births and related expenses, and a referral rate of one infant per 2,100 births. The Department estimates that on average specialized care facilities would receive referrals of fewer than two infants per month for clinical assessment and additional testing to confirm or refute screening results.
Annual cost for arranging for SCID-related referrals for a facility at which 2,000 babies are delivered each year would range from ½ of $40 to ½ of $100, depending on whether clerical staff or nursing staff arranged for the referral, or specifically $20-50 a year. Larger birthing facilities (i.e., those with the resources to perform transplants) would not incur even these minimal costs for referral to another facility.
Costs for Implementation and Administration of the Rule:
Costs to State Government:
State-operated facilities providing birthing services and infant follow-up and medical care would incur costs and savings as described above for private regulated parties.
State Medicaid costs will not increase with regard to referral costs, as such costs are included in rates for delivery-related services, and are not separately reimbursed. Costs associated with treatment for SCIDS for Medicaid-eligible infants would generally be borne by the State, as most counties have already reached their cap for Medicaid liability. However, there would likely be a net savings to Medicaid since early diagnosis provides the opportunity for less expensive treatment, (on the order of $300,000) and avoids medical complications, thereby reducing the number and average length of hospital stays, and emergency and intensive care services necessary due to recurrent infections (which can exceed $600,000).
Costs to the Department:
Costs incurred by the Department's Wadsworth Center for performing SCID screening tests, providing short- and long-term follow-up, and supporting continuing research in neonatal and genetic diseases will be covered by State budget appropriations. The Program expects minimal to no additional laboratory instrumentation costs related to this proposal, since the necessary technology has already been purchased.
The Department will incur minimal administrative costs for notifying all New York State-licensed physicians, hospital chief executive officers (CEOs) and their designees, and other affected parties, by letter informing them of a newborn screening panel expansion or, on an ongoing basis, of information regarding positive SCID screening results.
Costs to Local Government:
Local government-operated facilities providing birthing services and medical care to affected infants would incur the costs and savings described above for private regulated parties.
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. 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 of infants with abnormal screening results. Educational materials for parents and health care professionals and forms will be updated to include information on SCID at minimal costs at the next printing.
Duplication:
These rules do not duplicate any other law, rule or regulation.
Alternative Approaches:
Potential delays in detection of SCID until onset of clinical symptoms would result in increased infant morbidity and mortality, and are therefore unacceptable. Given the recent recommendation by DHHS, which takes into account that treatment is available to ameliorate adverse clinical outcomes in affected infants, the Department has determined that there are no alternatives to requiring newborn screening for this condition.
Federal Standards:
The DHHS has recommended a core newborn screening panel that represents a national standard 30-test panel that states are encouraged to adopt. A DHHS-commissioned Advisory Committee on Heritable Disorders of Newborns and Children recently recommended that states' newborn screening programs amend their test panels to include SCID. With the addition of SCID to its panel, the NYS Program would include all the DHHS-recommended tests.
Compliance Schedule:
The Commissioner of Health is expected to notify all New York State-licensed physicians by letter informing them of this newborn screening panel expansion. The letter will also be distributed to hospital CEOs and their designees responsible for newborn screening, as well as to other affected parties.
The infrastructure and mechanisms for making the necessary referrals is already in place in birthing facilities. Consequently, regulated parties should be able to comply with these regulations as of their effective date.
Regulatory Flexibility Analysis
Effect on Small Businesses and Local Governments:
This proposed amendment to add one new condition - an immunodeficiency disorder known as severe combined immunodeficiency (SCID) to the list of 44 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 SCID is operated as a small business. Local governments, including the New York City Health and Hospitals Corporation, operate 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 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 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.
Birthing facilities and at-home birth attendants (i.e., licensed midwives) would be required to follow up infants screening positive for SCID, and assume some responsibility for referral for medical evaluation and additional testing as they do for other conditions. The 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.
On average, each birthing facility can expect to refer no more than one additional infant per year for clinical assessment and confirmatory testing as a result of this amendment's proposal to add SCID screening to the existing newborn screening panel. This increase is expected to have minimal effect on a birthing facility's workload since at present approximately 30 infants, on average, are referred by birthing facilities statewide; with the addition of SCID this number would increase by an average of one infant. Therefore, no additional staff would be required for these institutions to comply with this proposal.
The Department anticipates that more than 95 percent of approximately 125 referred infants will ultimately be found not to be afflicted with SCID, based on clinical assessment and laboratory tests.
The Department expects that regulated parties will be able to comply with these regulations as of their effective date, upon filing 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 SCID and identification of screen-positive infants. Infants with positive screening tests for SCID would be referred to a facility employing a physician and other medical professionals with expertise in SCID.
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 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 SCID, primarily because the testing proposed under this regulation is expected to result in, on average, fewer than one referral per year at each of the 11 birthing facilities that are small businesses.
The NYS Program estimates that following implementation of this proposal, 125 newborns would screen positive for SCID annually statewide. Since timing is crucial, i.e., treatment must commence early to be effective, newborns who screen positive will require immediate referral to a facility with the requisite expertise for clinical assessment and laboratory testing. The Department estimates that on average such a facility would receive referrals of fewer than one infant per month for clinical assessment and additional testing to confirm or refute screening results. Cost figures that follow are based on 125 as a high-end estimate for the maximum number of infants statewide needing immediate referral.
Communicating the need for and/or arranging referral for medical evaluation of an identified infant would require less than 0.5 person-hour; no additional staff would be required. Annual cost for arranging for SCID-related referrals for a facility at which 2,000 babies are delivered each year would range from ½ of $40 to ½ of $100, depending on whether clerical staff or nursing staff arranged for the referral, or specifically $20-50 a year. Larger birthing facilities (i.e., those with the resources to perform transplants) would not incur even these minimal costs for referral to another facility.
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. The infrastructure for specimen collection and referrals of affected infants are already in place.
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 public health. The addition of SCID to the newborn screening panel will not impose a unique burden on facilities and practitioners that are operated by a local government or as a small business. 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 specimen collection, reporting, follow-up and recordkeeping practices.
Small Business and Local Government Participation:
The Program will notify all New York State-licensed physicians by letter informing them of this newborn screening panel expansion. An informational letter will also be distributed to hospital chief executive officers (CEOs) and their designees responsible for newborn screening, as well as to other affected parties. Regulated parties that are small businesses and local governments are expected to be prepared to participate in screening and follow-up for SCID on the effective date of this amendment because the staff and infrastructure needed for specimen collection and referrals of affected infants are already in place.
Rural Area Flexibility Analysis
Types of 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 population densities 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 population densities characteristic of rural areas.
This proposed amendment to add one new condition - severe combined immunodeficiency (SCID) - to the list of 44 genetic/congenital disorders and one infectious disease, for which every newborn in the State must be tested, would 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 SCID 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; the 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 SCID, 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 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 SCID and identification of screen-positive infants. Infants with a positive screening test for SCID will be referred to a facility employing a physician and other medical professionals with expertise in SCID.
Compliance 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 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 less than 0.5 person-hour, and these tasks are expected to be able to be accomplished with existing staff. Annual cost for arranging for SCID-related referrals for a facility at which 2,000 babies are delivered each year would range from ½ of $40 to ½ of $100, depending on whether clerical staff or nursing staff arranged for the referral, or specifically $20-50 a year. Larger birthing facilities (i.e., those with the resources to perform transplants) would not incur even these minimal costs for referral to another facility. 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 additional testing.
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 infant testing to statewide public health and welfare. The addition of SCID to the newborn screening panel will not impose a unique burden on facilities and practitioners operating in rural areas. 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 Program will notify all New York State-licensed physicians by letter informing them of this newborn screening panel expansion. An informational letter will also be distributed to hospital chief executive officers (CEOs) and their designees responsible for newborn screening, as well as to other affected parties. Regulated parties in rural areas are expected to be able to participate in screening and follow-up for SCID on the effective date of this amendment.
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 an immune system disorder, severe combined immunodeficiency (SCID), to the scope of newborn screening services 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.
