HD28 - Report on the Review of Newborn Screening in Virginia

Executive Summary:


HJR 164 directed the Joint Commission on Health Care (JCHC) to review information regarding newborn screening (NBS) programs for metabolic disorders including the disorders screened in other states, and the benefits and the costs associated with screenings. The collected information and an executive summary are required to be submitted prior to the 2005 General Assembly Session for processing as a legislative document.

NBS Programs in Other States and Anticipated New Federal Guidelines

Newborn screening programs began in the 1960s, after the effects of PKU were identified and a method was developed to preserve blood samples on filter paper, an inexpensive, simple means of screening a large number of newborns.

Although NBS is conducted in each of the 50 states, there is currently no uniformity in the number of disorders screened with 3 to 54 disorders being screened. The lack of uniformity is due in part to the absence of federal requirements related to NBS. Currently, the federal recommendation is for newborns to be screened for PKU, congenital hypothyroidism, and sickle cell diseases. However, it is anticipated that the Secretary of Health and Human Services (HHS) will issue a new recommendation based on the findings of a recently released study by the American College of Medical Genetics (ACMG) with Michael S. Watson Ph.D. as primary author. The 3-year ACMG study to develop a uniform list of disorders for states to include in NBS screening programs was presented in September 2004 to an Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns or Children (established by the HHS Secretary). The ACMG study recommended screening for a core panel of 30 disorders with 25 additional disorders being report-only disorders. (Virginia screens for 12 of the 30 disorders as they are listed in the ACMG study.) It is expected that the HHS Secretary will recommend that states include a NBS panel of disorders that is different by only one or two disorders from the ACMG’s initial study recommendation.

Reaction to the Anticipated Expansion of NBS Panels

On September 22, 2004, the March of Dimes revised its NBS recommendation from 9 disorders to the 30 disorders recommended in the ACMG study.

Expansion is supported by a number of Virginia-based associations including: VA Chapter of March of Dimes, VA Chapter of American Academy of Pediatrics, VA Association of Health Plans, VA Hospital & Healthcare Association (VHHA), VA Genetic Advisory Committee (VaGAC) and DMAS. VHHA indicated however the need for the societal benefits to be borne “fairly by all those who benefit." VaGAC, which is charged with recommending changes in the NBS program to the VA Board of Health suggests limiting the initial expansion to the disorders that can be tested on the tandem mass spectrometer to allow for further study on screening of cystic fibrosis (CF) and Glucose 6 Phosphate Deficiency (G6PD).

Expansion of the NBS Panel in Virginia

The Division of Consolidated Laboratory Services (DCLS) within the Department of General Services completes the NBS testing. DCLS has the equipment to complete testing for 28 of the 30 disorders included in the ACMG study (exceptions are CF and G6PD). A few additional staff with expertise in interpreting screening results will be needed. VDH (with DCLS) will need to educate and provide technical assistance to providers, expand databases, and enhance services for children who are medically indigent children or have certain disorders. VDH contracts with EVMS, UVA, and VCU to provide expert consultation, diagnostic testing, and treatment will need to be expanded.

Even if the decision is made to expand NBS as soon as possible, there will be a delay (likely to be until March 2006) before the expanded screening will be implemented. Virginia Newborn Screening Services and DCLS in cooperation with VaGAC will be adding information regarding expanded, supplemental screening options to their NBS pamphlet. The pamphlet is typically given to parents of newborns in hospitals. However, efforts are underway to provide the pamphlets to parents during the prenatal period. Moreover, information about expanded, supplemental screening options will be included on the VDH website.

Actions Taken by JCHC

Six policy options were offered for consideration by the Joint Commission on Health Care. On November 15, 2004, the Commission voted in support of the options including:

Option III: Introduce legislation to amend the Code of Virginia, Title 32.1 Chapter 2 to expand Virginia’s panel for newborn screening to include all of the disorders recommended by the Secretary of Health and Human Services (effective date March 2006).

Three comments were received specifically in support of Option III while three additional comments were received in support of expansion in general without specifying a preference for Option II or Option III.
Delegate Kenneth R. Plum, the Family Support Group, and Pediatrix Medical Group and Pediatrix Screening commented in support of Option III. Delegate Plum stated: “With the advances in technology and scientific research, it is possible to expand the current program in Virginia to include 30 disorders recommended by the United States Secretary of Health and Human Services. I would be honored to assist with the necessary statutory and budget amendments." The comment from Pediatrix Medical Group and Pediatrix Screening noted: “We respectfully request the Virginia Joint Commission on Health Care to consider public-private partnerships as a cost-effective means to deliver a comprehensive and quality newborn screening program."

Jana A. Monaco, a parent of a child who was affected severely by an undiagnosed metabolic disorder and Board member of the Organic Acidemia Association, VDA, and VHHA commented in support of expanding the NBS panel without specifying a preference between Options II or III. In supporting expansion via Options II or III, VDH wrote: “any action to expand the newborn screening program will require changes to Code of Virginia pertaining to treatment services, as well as additional fiscal resources. VDH requests the JCHC to propose amendments to § 32.1-67 that would enable VDH to adequately respond to the treatment needs of individuals served by the program. Currently, this section of the Code of Virginia does not provide VDH with the clearly defined ability to meet management and treatment needs under an expanded screening panel. VDH believes a better result can be achieved through regulatory action by the Board of Health, pursuant to legislative direction, rather than by attempting to include specific program rules and requirements in statute, as is currently the case. Modifications to existing regulations governing the Newborn Screening and Children with Special Health Care Needs Programs, developed pursuant to the public participation requirements of the Administrative Process Act, would provide a more appropriate and responsive avenue to prescribe VDH’s responsibility with regards to management and scope of treatment. VDH prefers this approach to enable the agency to react appropriately to anticipated increases in program participants as well as changes in the ever transforming genetics field."

Option IV: Introduce a budget amendment for as much as $1.15 million in general funds to fund all or a portion of the expanded screening for FY 2006. Include on the 2005 workplan of the Joint Commission, consideration of continued funding of the expanded program.

Three comments were received in support of Option IV – Albert B. Finch, MD, FAAP, for Children’s Hospital of the King’s Daughters, VDA, and VHHA. VDH noted: “Additional required resources for management and treatment needs resulting from newborn screening can be estimated. However these needs will likely change as the actual incidence of these rare conditions is realized in the Commonwealth. For example, certain conditions are much more prevalent among certain sub-populations. Most importantly, treatment costs vary significantly from screening costs. Since infants are screened, for the most part, only once, the costs associated with the screening itself are more finite and predictable. Medical management and treatment for diagnosed infants, however, will span many years with the cohort of those entering treatment growing every year. Since the management and treatment costs are projected to grow on an annual basis, VDH prefers that funding for follow up, management, and treatment be appropriated through a budget amendment using General Funds as proposed by Policy Option 4. This funding approach will provide VDH with more fiscal stability to support mandated services."

Option V: Introduce a budget amendment (language only) directing the Department of General Services to increase newborn screening user fees to fund all or a testing portion of the expanded screening. (It is estimated that an increase from $32/filter to a range of $41 to $48 per filter would fund the screening-related activities while an increase of an additional $4.50 or $6.00 per filter would fund screening, educational, and follow-up activities).

No comments were received in support of Option V. Three comments were received in opposition of Option V – Albert B. Finch, MD, FAAP for Children’s Hospital of the King’s Daughters, VDA, and VHHA. VHHA indicated that the benefits of NBS “saves society as a whole from expense by preventing the need for lifelong support of needlessly disabled citizens….and the burden of funding these programs must be borne fairly by all those who benefit and should not be imposed primarily on hospitals." VDH’s letter stated: “If a user fee, as proposed in JCHC Option 5, is the sole source of funding for an expansion of Newborn Screening Services, then the ability to ensure that adequate resources are maintained for follow up, management, and treatment will be limited and funding shortfalls are likely to occur within several years."

Option VI: Introduce a joint resolution and accompanying budget amendment (language only) requesting the Board of Health to submit a plan for expanding Virginia’s panel of newborn screening disorders.

No comments were received in support of Option VI.