REGULATORY ANALYSIS
FOR
AMENDMENTS TO THE STATE OF COLORADO
NEWBORN SCREENING REGULATIONS
5 CCR 1005-4
Section 1.6, List of Conditions for Newborn Screening
Adopted by the State Board of Health on
November 28, 2007
Section 25-4-1004, C.R.S.
The nature of the revisions is summarized in the accompanying Statement of Basis and Purpose
and Specific Statutory Authority. Seven regulatory analysis elements follow:
1.
A description of the classes of persons who will bear the costs and/or benefits from
the rule.
Colorado parents, their newborns, and their insurers, including Medicaid, will bear the
costs and derive the benefits of the rule change.
2.
The probable quantitative and qualitative impacts of the rule, economic and
otherwise, upon the affected classes.
Quantitative: An estimated additional 1-3 newborns with significant treatable metabolic
defects will be discovered annually allowing for the initiation of medical measures
appropriate to the disorder identified.
Qualitative: Parents of these newborns will be relieved of the burden of the extensive
diagnostic burden to determine the cause of the metabolic anomalies that typically
accompany these disorders. The Colorado Newborn Screening program will be
recognized as meeting or exceeding the standard of care for screening as to the number
and severity of disorders.
3.
Probable costs to the Department and to local health departments and anticipated
effects on state revenues.
No additional fee increase will be necessary to accomplish this improvement.
4.
A comparison of the probable costs and benefits of the rule and probable costs and
benefits of inaction.
Since the implementation of MS-MS screening on July 1, 2006, twenty-one (21) cases of
significant metabolic illness have been detected in Colorado Newborns ( or ca.1:3250)
1
using this technology—compared to an original estimate of 17-20 children per year. The
technology has fulfilled all expectations for the detection of these metabolic disorders,
including the detection of one case of a disorder that is currently not included in the list
of first newborn screen disorders.
5.
A determination of whether there are less costly or less intrusive means to achieve
the purpose of the rule.
No alternative is available at the present time. Private sector costs for screening alone
range from $20-25 per specimen
6.
A description of alternative methods for achieving the purpose of the rule.
No alternative is available at the present time.
MS/MS technology is a rapidly changing technology, with greater capabilities anticipated
over time. The capability of MS/MS technology provides for screening and detection of
a number of fatty acid oxidation, amino acid and organic acid disorders, that is
anticipated to continue to increase over time as the technology further develops.
The four disorders proposed for addition meet the criteria required by C.R.S. § 25-41004(1)(c):
(I)
The condition for which the test is designed presents a significant danger to the
health of the infant of his family and is amenable to treatment;
(II)
The incidence of the condition is sufficiently high to warrant screening;
(III) The test meets commonly accepted clinical standards of reliability, as
demonstrated through research or use in another state or jurisdiction; and
(IV) The cost-benefit consequences of screening are acceptable within the context of
the total newborn screening program.
7.
To the extent practicable, a quantification of the data used in the analysis, taking
into account both short-term and long-term consequences.
The estimates noted below are based largely on the most common of the newly detectable
diseases, for which there is precise outcome data on a large series of patients (Medium
chain acyl CoA Dehydrogenase deficiency, or MCAD. Of the 21 newly identified cases,
eight were identified as MCAD cases and are subject to serious impairment.2,4 The
yearly cost estimate of such impairment has been estimated as $135,000/year cost in 1996
dollars for individuals with severe cerebral palsy.5 Twelve percent of the patients with
MCAD in Iafolla’s study6, had extreme outcomes such as severe cerebral palsy and
global developmental delay, and a greater proportion of such outcomes would be
expected in other of the disorders detected by MS/MS (Janet Thomas, Inherited
Metabolic Diseases Clinic, The Children’s Hospital, Denver). This figure would be
$166,000 in today’s dollars using a conservative yearly change in the Consumer Price
2
Index (CPI). This translates to $1,326,000 saved for the 8 seriously damaged infants
detected during FY07 by MS-MS screening methods currently in use. Inflation could
easily result in an adjustment of 7-15% per year.
At this point it is not possible to extrapolate the cost savings for MCAD cases to the four
disorders for which approval to add to 5 CCR 1005-4 Part 1.6 is requested. However, the
accumulating evidence is that medical interventions are only possible if the metabolic
disorder is definitely identified.
1
Sweetman L. Newborn screening by Tandem Mass Spectrometry: Gaining Experience. Clinical
Chemistry 2001;47:1937-8.
1
Pollitt RJ et al. Neonatal screening for inborn errors of metabolism: Cost, yield and outcome.
Health Technology Assessment 1997;1:1-162.
3
Viscusi WK. The value of risks to life and health. Journal of Economic Literature
1966;31:1912-46.
4.
Schoen EJ et al. Cost-benefit analysis of tandem mass spectrometry for newborn screening.
Pediatrics 2002;110:781-6.
5.
Insinga RP et al. Newborn screening with tandem mass spectrometry: Examining its costeffectiveness in the Wisconsin newborn screening panel. J Pediatr 2002;141:524-31.
6.
Waitzman NJ et al. The cost of birth defects: Estimates of the value of prevention. University
Press of America, Lanham 1996.
7.
Iafolla Ak et al. Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in
120 affected children. Journal of Pediatrics 1994;124:409-15.
8
Boles RG et al. Retrospective biochemical screening of fatty acid oxidation disorders in
postmortem livers of 418 cases of sudden death in the first year of life. Journal of Pediatrics
1998;132:924-33.
9.
Centers for Disease Control and Prevention. Contribution of selected metabolic diseases to
early childhood deaths – Virginia, 1996 – 2001. MMWR 2003;52:677-9.
3