Newborn Screening

By Ronald L. Scott & Paul G. Arshagouni
Health Law & Policy Institute
rscott@central.uh.edu

Texas Senate Bill 1284 and House Bill 2991 (the Bills) are identical bills that will amend the Texas Health and Safety Code by adding a requirement that the Texas Department of Health (TDH) purchase tandem mass spectrometers (MS/MS) for use in the newborn screening program.  As written, the Bills would require TDH to purchase ten MS/MS machines and employ eighteen individuals no later than March 1, 2004.

All states have newborn screening programs designed to detect various congenital and metabolic diseases before any clinical symptoms manifest.  This allows newborns to receive early care that may prevent or eliminate the adverse consequences of the conditions.  In March 2003 the General Accounting Office (GAO) issued a report to congressional requesters Senators Chris Dodd (D-CT) and Mike DeWine (R-OH) reviewing the characteristics of state programs for newborn screening.  Dodd and DeWine are proposing federal legislation to provide more federal resources for newborn screening.

The GAO reported that states vary in the number of disorders their programs test for: most states screen for 8 or fewer conditions (Texas currently screens for five disorders).  The number of disorders screened for ranges from 4-36.  The only federal guidelines currently in place recommend screening for PKU, congential hypothyriodism, and sickle cell diseases.  Factors considered by the states in deciding what conditions to test for include the frequency of occurrence of the disorder, effectiveness and cost-effectiveness of the test, and whether the disorder is treatable. Most states spend $20-40 per newborn on screening.  Fees charged for screening pay for most of the expenditure.  In 33 states, exemptions from screening are allowed for religious reasons, and an additional 13 states allow exemption for any reason.  See Newborn Screening: Characteristics of State Programs (GAO March 17, 2003), available at http://www.gao.org.

MS/MS is a relatively new technology that permits testing for more than 30 diseases associated with inborn errors of metabolism (IEM).  It utilizes a technique of separating molecules in a sample by their mass and electric charge.  It can screen for numerous IEM using dried blood spot specimens collected from newborns.  Of the five disorders Texas currently screens for, only one is detectable by MS/MS.  This technology holds the potential for significantly increasing the number of IEM detectable in the newborn screening program.

Over the last few years, several states have begun to utilize MS/MS. Eleven states currently use MS/MS on a regular basis.  Five states are utilizing MS/MS in pilot programs.  Another six states have plans to add MS/MS to their newborn screening programs of the next year.  Several other states are currently considering adding MS/MS to their newborn screening programs.

The greatest barrier to employing MS/MS in the newborn screening program is the initial costs of buying or leasing the machines and training personnel.  A single MS/MS machine may cost in excess of $250,000.  Additionally, there is the need for new personnel to maintain and run the machines.

The cost-effectiveness of using MS/MS depends on several factors.  These factors, among others, include the cost of the screening test itself, the rate of false positives, the cost of confirmatory tests for positive results, and the relative costs of medical care for individuals found to have an IEM in the screening test versus the costs of waiting to treat until after the IEM manifests itself clinically.

A recent study published in Pediatrics in October 2002 found MS/MS to be cost-effective.*  This study estimated the cost per-adjusted life years (QALY) at $5,827.**  This result compares favorably with other common screening programs referenced in the study.  For example, the study cited prostate cancer screening, with an estimated cost per QALY of between $8,400 and $23,100 and semiannual screening for retinopathy in high-risk patients with type 2 diabetes, with an estimated cost per QALY of $49,760.

Another study, conducted by researchers at the Children’s Hospital of Philadelphia, found MS/MS to be cost-effective in screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency, one of the IEM.  One analysis of the Wisconsin newborn screening program, which recently began using MS/MS, also found the new technology to be cost effective.

Despite their findings, these studies all recognize that there is considerable difficulty in accurately determining the cost/benefit ratio and recommend additional evaluation.  This is particularly so because of rareness of these diseases.  Also, there is some difficulty in assigning a dollar value to the improved quality of life for the child spared the adverse consequences of an IEM, as well as the positive consequences to the child’s family.  Policy makers should consider these less quantifiable benefits when evaluating whether to add MS/MS to the newborn screening program.

The legislature has several policy options it may consider.  Policy makers may fully incorporate MS/MS into Texas’ newborn screening program and pass the Bills as written.  Passage of the Bills will require the TDH to purchase the machines and employ the necessary personnel within the next year.  However, the Bills do not provide the TDH additional funding with which to purchase the machines or hire personnel.  The legislature will need to provide for the necessary funds.

Alternatively, the legislature may consider phasing MS/MS into the newborn screening over a 2-4 year period.  Policy makers could purchase a reduced number of MS/MS machines and add fewer new employees each year over the next several years until the full complement is reached.  This will reduce the added financial burden in any given year, but will delay full implementation.  Given the current budget difficulties, this may be a preferred option.  However, policy makers will need to guarantee that funding will be provided over the entire start-up period.

Policy makers may also consider beginning with a pilot program covering only specified populations and disorders.  TDH may review the pilot program after a defined period of time to assess its costs and effectiveness.  Policy makers could initially lease the machines with plans to purchase them should TDH find the program to be effective.  This policy option, while affecting a smaller number of Texas newborns and/or screening for fewer IEMs, will have lower initial start-up costs.

Policy makers should also be aware that screening for additional IEM may have an affect on health insurance.  The Texas Insurance Code, Ch. 3, Art. 3.79 requires health insurance policies to cover dietary formulas necessary to treat heritable diseases and are often best treated with special dietary formulations.
 

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*  See “ Cost- Benefit Analysis of Universal Tandem Mass Spectrometry for Newborn Screening” by Edgar Schoen, et al, Pediatrics 2002; 110 781-786.

** This study calculated cost per QALY under three scenarios, using favorable, base, and unfavorable assumptions. The unfavorable scenario resulted in a cost per QALY of $11, 419.  The favorable scenario resulted in a cost per QALY of $736.
 

05/16/03