Title of Regulation: 12VAC5-71. Regulations Governing Virginia Newborn Screening Services (amending 12VAC5-71-30).

Statutory Authority: §§ 32.1-12 and 32.1-67 of the Code of Virginia.

Public Hearing Information: No public hearings are scheduled.

Public Comment Deadline: September 12, 2014.

Agency Contact: Dev Nair, Ph.D., Director, Policy and Evaluation Division, Office of Family Health Services, Department of Health, 109 Governor Street, Richmond, VA 23219, telephone (804) 864-7662, FAX (804) 864-7647, or email dev.nair@vdh.virginia.gov.

Basis: The State Board of Health is authorized to make, adopt, promulgate, and enforce regulations by § 32.1-12 of the Code of Virginia. Section 32.1-65 of the Code of Virginia requires newborn screening to be conducted on every infant born in the Commonwealth of Virginia. Section 32.1-67 of the Code of Virginia requires the board to promulgate regulations as necessary to implement newborn screening services. The regulations are required to include a list of newborn screening tests pursuant to § 32.1-65.

Purpose: All newborns in Virginia would be screened for Severe Combined Immunodeficiency (SCID) as a result of this proposed regulatory action. SCID is currently estimated to occur in approximately one out of every 50,000 live births, and some data suggest that figure could be higher. SCID is a term applied to a group of inherited disorders characterized by defects in both T-cell and B-cell responses. The defining characteristic of SCID is the absence of T cells and, as a result, lack of B-cell function, the specialized white blood cells made in the bone marrow to fight infection. Neonates with SCID appear healthy at birth, but without early treatment, most often by bone marrow transplant from a healthy donor, these infants cannot survive or, if they do, have significant morbidities. In addition, the success of the bone marrow transplantation decreases with delayed diagnosis, mostly due to underlying infections. All these factors also add to the cost of care of these patients. Undiagnosed cases are 100% fatal.

Screening for SCID gives affected infants the advances of early diagnosis and treatment. Early identification results in a higher survival rate, better outcomes, and lower healthcare costs. Screening for SCID is an imperative diagnostic tool since SCID cannot be detected by a physical examination. Laboratory screening is available for high volume testing at a reasonable cost.

SCID was added to the Recommended Uniform Screening Panel (RUSP) by U.S. Health and Human Services Secretary Kathleen Sebelius following extensive study and recommendation from the Secretary's Advisory Panel on Heritable Disorders in Newborns and Children. The Virginia Genetics Advisory Committee also unanimously voted to recommend to the State Health Commissioner that SCID be added to the state newborn screening panel. A Virginia SCID Planning Workgroup met September 21, 2012, to formulate a plan and discuss issues surrounding the possible addition of this condition to the Virginia panel. It is anticipated that Virginia would begin screening for SCID in 2014.

Substance: The changes proposed to 12VAC5-71 will revise the listing of specific disorders for which screening is conducted by adding SCID to the state's core panel. Currently, the Division of Consolidated Laboratory Services (DCLS) analyzes biological markers that may be indicative of 28 certain disorders that constitute the core panel. Section 32.1-67 of the Code of Virginia requires that this list of screened disorders be in the regulation. Section 32.1-65 of the Code of Virginia requires that Virginia's screening tests are consistent with the panel recommended by the U.S. Secretary of Health and Human Services and the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.

Issues: The primary advantage of this regulatory action to the public and to the Commonwealth is universal access to early diagnosis and treatment of SCID. Screening for SCID allows for early identification of the disease, which then leads to higher survival rates, better health outcomes, and lower costs.

A pertinent matter of interest to the regulated community, government officials, and the public is the projected increase in the cost of the blood spot screening panel. Newborn screening is a fee-for-service program, and the fee is paid by hospitals and other screeners who must purchase the filter paper kits used for blood spot collection. Most screening is performed in hospitals, with about 10% to 15% of screenings performed by private physicians and military facilities. Hospitals do not generally pass on these costs to patients because third-party payers usually pay a negotiated bundled amount per delivery, and Medicaid-reimbursed delivery payment is set by the Commonwealth. Self-pay patients may be responsible to pay the screening fee themselves if they have the resources to do so.

Since the SCID screening assay is based on new highly sensitive, specific molecular detection methodology not previously employed by the newborn screening laboratory, the DCLS requires additional capital equipment, staff, and some laboratory renovation to conduct SCID screening. Based on current cost estimates and the current number of samples being tested annually, the cost to add SCID screening will be $7.50 per sample. Adjustments to this estimate are possible if DCLS receives a grant for two-year funding from the Centers for Disease Control and Prevention. This funding source could potentially contribute up to $300,000 in both FY 2014 and FY 2015 towards lab-related costs associated with adding SCID to the panel.

The $7.50 fee for SCID testing is part of a more comprehensive fee increase for the newborn screening panel that will also cover costs for additional Department of Health follow-up personnel and other screening-related expenses such as test kits used for cystic fibrosis mutation analysis. These other screening-related expenses will have an estimated fiscal impact of an additional $15.50 to $17.50 per panel. As a result, the total cost of the blood spot screening panel is estimated to increase from $53 to between $76 and $78. This estimate reflects a cost that would be at or below the national average fee of $78 among seven fee-based newborn screening programs that have implemented SCID testing. It should also be noted that the Virginia newborn screening program has not had a fee increase since 2006.

Department of Planning and Budget's Economic Impact Analysis:

Summary of the Proposed Amendments to Regulation. The State Board of Health (Board) proposes to add Severe Combined Immunodeficiency (SCID) to the newborn screening panel.

Result of Analysis. The benefits likely exceed the costs for all proposed changes.

Estimated Economic Impact^1. Blood spot newborn screening services are provided by the Department of General Services' Division of Consolidated Laboratory Services (DCLS) in partnership with the Virginia Department of Health. SCID is a primary immunodeficiency disease that is estimated to occur in approximately 1 out of every 50,000 live births. Undiagnosed cases are 100% fatal. Effective treatment for SCID is available if it is detected early. Screening is necessary as this disease cannot be detected through physical examinations. The addition of SCID to the newborn screening panel has been recommended by the Virginia Genetics Advisory Committee and on a national level, this disease has been added to the core panel of 31 genetic disorders included in the Recommended Uniform Screening Panel of the U.S. Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.

In 2011, there were 101,032 live births in the Commonwealth.² Thus, adding SCID to the newborn screening panel could potentially save approximately two lives a year.

Newborn screening is a fee-for-service program, and the fee is paid by hospitals and other screeners (to DCLS) who must purchase the filter paper kits used for blood spot collection. Most screening is performed in hospitals, with about 10% to 15% of screening performed by private physicians and military facilities.

Since the SCID screening assay is based on new highly sensitive, specific molecular detection methodology not previously employed by the newborn screening laboratory, DCLS requires additional capital equipment, staff and some laboratory renovation to conduct SCID screening. Based on current cost estimates and the current number of samples being tested annually, the cost to add SCID screening will be $7.50 per sample. Adjustments to this estimate are possible if DCLS receives a grant for two-year funding from the Centers for Disease Control and Prevention. This funding source could potentially contribute up to $300,000 in both FY 2014 and FY 2015 towards lab related costs associated with adding SCID to the panel.

With approximately 100,000 live births a year, the estimated $7.50 cost increase will increase aggregate costs by about $750,000 per annum, while potentially saving approximately two lives a year. Assuming that we value life at more than $375,000 per person, the proposed addition of Severe Combined Immunodeficiency to the newborn screening panel should produce a net benefit.

Businesses and Entities Affected. The proposed amendment will affect the 63 birth hospitals and birth centers, as well as their staff, and the sixty seven licensed midwives in Virginia. Newborns and their families will also be affected.

Localities Particularly Affected. The proposed amendment does not disproportionately affect particular localities.

Projected Impact on Employment. The proposed amendment will likely require that the Department of General Services' Division of Consolidated Laboratory Services hire additional staff.

Effects on the Use and Value of Private Property. The proposed amendment is unlikely to significantly affect the use and value of private property.

Small Businesses: Costs and Other Effects. The proposed amendment is unlikely to significantly affect costs for small businesses.

Small Businesses: Alternative Method that Minimizes Adverse Impact. The proposed amendment is unlikely to adversely affect small businesses.

Real Estate Development Costs. The proposed amendment is unlikely to significantly affect real estate development costs.

Legal Mandate. The Department of Planning and Budget (DPB) has analyzed the economic impact of this proposed regulation in accordance with § 2.2-4007.04 of the Administrative Process Act and Executive Order Number 14 (10). Section 2.2-4007.04 requires that such economic impact analyses include, but need not be limited to, a determination of the public benefit, the projected number of businesses or other entities to whom the regulation would apply, the identity of any localities and types of businesses or other entities particularly affected, the projected number of persons and employment positions to be affected, the projected costs to affected businesses or entities to implement or comply with the regulation, and the impact on the use and value of private property. Further, if the proposed regulation has an adverse effect on small businesses, § 2.2-4007.04 requires that such economic impact analyses include (i) an identification and estimate of the number of small businesses subject to the regulation; (ii) the projected reporting, recordkeeping, and other administrative costs required for small businesses to comply with the regulation, including the type of professional skills necessary for preparing required reports and other documents; (iii) a statement of the probable effect of the regulation on affected small businesses; and (iv) a description of any less intrusive or less costly alternative methods of achieving the purpose of the regulation. The analysis presented above represents DPB's best estimate of these economic impacts.

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¹All data were provided by the Virginia Department of Health.

²Calendar year 2011 was the most recent year this datum was available.

Agency's Response to Economic Impact Analysis: The Virginia Department of Health concurs with the results of the analysis.

Summary:

The proposed amendment adds "Severe Combined Immunodeficiency" to the list of newborn screening tests conducted pursuant to § 32.1-65 of the Code of Virginia.

12VAC5-71-30. Core panel of heritable disorders and genetic diseases.

A. The Virginia Newborn Screening System, which includes Virginia Newborn Screening Program and the Virginia Early Hearing Detection and Intervention Program, shall ensure that the core panel of heritable disorders and genetic diseases for which newborn screening is conducted is consistent with but not necessarily identical to the U.S. Department of Health and Human Services Secretary's Recommended Uniform Screening Panel.

B. The department shall review, at least biennially, national recommendations and guidelines and may propose changes to the core panel of heritable disorders and genetic diseases for which newborn dried-blood-spot screening tests are conducted.

C. The Virginia Genetics Advisory Committee may be consulted and provide advice to the commissioner on proposed changes to the core panel of heritable disorders and genetic diseases for which newborn dried-blood-spot screening tests are conducted.

D. Infants under six months of age who are born in Virginia shall be screened in accordance with the provisions set forth in this chapter for the following heritable disorders and genetic diseases, which are identified through newborn dried-blood-spot screening tests:

1. Argininosuccinic aciduria (ASA);

2. Beta-Ketothiolase deficiency (BKT);

3. Biotinidase deficiency (BIOT);

4. Carnitine uptake defect (CUD);

5. Classical galactosemia (galactose-1-phosphate uridyltransferase deficiency) (GALT);

6. Citrullinemia type I (CIT-I);

7. Congenital adrenal hyperplasia (CAH);

8. Cystic fibrosis (CF);

9. Glutaric acidemia type I (GA I);

10. Hb S beta-thalassemia (Hb F,S,A);

11. Hb SC-disease (Hb F,S,C);

12. Hb SS-disease (sickle cell anemia) (Hb F, S);

13. Homocystinuria (HCY);

14. Isovaleric acidemia (IVA);

15. Long chain L-3-Hydroxy acyl-CoA dehydrogenase deficiency (LCHAD);

16. Maple syrup urine disease (MSUD);

17. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD);

18. Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency) (MUT);

19. Methylmalonic acidemia (Adenosylcobalamin synthesis deficiency) (CBL A, CBL B);

20. Multiple carboxylase deficiency (MCD);

21. Phenylketonuria (PKU);

22. Primary congenital hypothyroidism (CH);

23. Propionic acidemia (PROP);

24. Severe combined immunodeficiency (SCID);

24. 25. Tyrosinemia type I (TYR I);

25. 26. Trifunctional protein deficiency (TFP);

26. 27. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD);

27. 28. 3-hydroxy 3-methyl glutaric aciduria (HMG); and

28. 29. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC).

E. Infants born in Virginia shall be screened for hearing loss in accordance with provisions set forth in §§ 32.1-64.1 and 32.1-64.2 of the Code of Virginia and as governed by 12VAC5-80.