Scope Statements
Health Services
This statement of Scope was approved by the governor on June 5, 2014.
Rule No.
Relating to
Screening newborns for congenital and metabolic disorders.
Rule Type
Permanent and emergency.
Type of Statement of Scope
Original
1. Finding/Nature of Emergency (Emergency Rule Only)
The department finds that an emergency exists and that the adoption of an emergency rule may be necessary for the immediate preservation of the public health, safety, and welfare. The facts constituting the emergency are as follows:
1. Section
253.13 (1), Stats., requires attending physicians and nurses licensed under s.
441.15, Stats., to cause every infant born in each hospital or maternity home, prior to the infant's discharge to be subjected to tests for congenital and metabolic disorders, as specified in rules promulgated by the department. If the infant is born elsewhere than in a hospital or maternity home, the attending physician, nurse licensed under s.
441.15, Stats., or birth attendant who attended the birth shall cause the infant, within one week of birth, to be subjected to these tests.
2. Section
DHS 115.04 lists the disorders for which newborns must be tested under s.
253.13 (1), Stats.
3. Critical congenital heart disease (CCHD) is described as those congenital cardiac malformations in which surgical or catheter-based therapy is necessary within the first months of life. There are 12 lesions commonly considered as CCHD. In some circumstances, infants with CCHD may be asymptomatic and have a normal physical examination prior to routine hospital discharge or completion of home birth care. Unrecognized CCHD can result in death or disability shortly after hospital discharge.
4. Death due to unrecognized CCHD from 2002 to 2006 occurred in 1:38,397 Wisconsin births and death or re-hospitalization occurred in 1:24,684 Wisconsin births before two weeks of age. The median age at death due to unrecognized CCHD was 4.5 days.
5. Pulse oximetry, a point of care testing, is the recognized screening method for CCHD.
6. Prior to
2013 Wisconsin Act 135, adding pulse oximetry screening for CCHD to the mandatory panel was not permitted because testing for congenital and metabolic disorders under s.
235.13 (1), Stats. (2011-12) was explicitly limited to blood testing. Section
253.13 (1), Stats., as amended by
2013 Wisconsin Act 135, now allows testing for congenital and metabolic disorders using other screening methods including blood testing.
7. The Wisconsin State Laboratory of Hygiene (WSLH) tests newborns for organic acidemias (OA), a group of inherited disorders that lead to an abnormal buildup of particular acids, known as organic acids, in the body.
8. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. A baby affected with an OA is usually well at birth and for the first few days of life. The usual clinical presentation is that of toxic encephalopathy and includes vomiting, poor feeding, neurologic symptoms such as seizures and abnormal tone, and lethargy progressing to coma. Outcome is improved by diagnosis and treatment in the first ten days of life.
9. Propionic acidemia and methylmalonic acidemia are two types of organic acidemias. In propionic academia and methylmalonic acidemia, the body is unable to process certain parts of proteins and lipids (fats) properly. In most cases, the features of propionic acidemia become apparent within a few days after birth. Propionic acidemia affects about 1 in 100,000 people in the United States. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Without treatment, this disorder can lead to coma and death in some cases. This condition occurs in an estimated 1 in 50,000 to 100,000 people.
10. Though OA was determined to have met the criteria under s.
DHS 115.06 for being added to the list of congenital and metabolic disorders for which WSLH must test the blood samples of newborns, the conditions were inadvertently omitted from the list of conditions in s.
DHS 115.04 during subsequent revisions.
11. The process for promulgating permanent rules may take 24 months to complete, or longer if the department is unable to submit the permanent rules to the legislature prior to its last general business floor period in 2016.
2. Detailed Description of the Objective of the Proposed Rule
The objective of the proposed rule is to add CCHD as a condition for which newborns must be tested; define point of care testing; correct an omission on the list of conditions tested by the Wisconsin State Laboratory of Hygiene (WSLH) from a blood sample; and include reporting requirements associated with tests performed.
3. Description of the Existing Policies Relevant to the Rule, New Policies Proposed to be Included in the Rule, And an analysis of Policy Alternatives
As provided in s.
253.13 (1), Stats. (2011-12), ch.
DHS 115 specifies the congenital and metabolic orders for which newborns must be screened by means of a blood sample shortly after birth and tested by the WSLH.
2013 Wisconsin Act 135 modified s.
253.13 (1), Stats., relating to infant blood tests so that the required screening may be performed by methods in addition to blood testing. The department proposes to revise ch.
DHS 115 to provide for point of care testing, which can be administered and interpreted at the bedside of the newborn in the hospital or birth delivery site, and to otherwise conform the rules to s.
253.13, Stats.
CCHD
To determine whether to add or remove a disorder, criteria for adding or deleting conditions must be considered and the department must seek the advice and guidance of medical consultants, WSLH, and other persons who have expertise and experience in dealing with congenital and metabolic disorders. The Secretary's Advisory Committee on Newborn Screening (Committee) recommends to the department whether to add or remove a condition. The Committee has voted to recommend the addition of CCHD, and the department has determined that CCHD should be added as one of the disorders for which newborns must be tested. CCHD is usually described as those congenital cardiac malformations in which surgical or catheter-based therapy is necessary within the first months of life. There are 12 lesions commonly considered as CCHD. In some circumstances, infants with CCHD may be asymptomatic and have a normal physical examination prior to routine hospital discharge or completion of home birth care. Unrecognized CCHD can result in death or disability shortly after hospital discharge. During 2002 to 2006, death due to unrecognized CCHD occurred in 1:38,397 Wisconsin births and death or rehospitalization occurred in 1:24,684 Wisconsin births before two weeks of age. The median age at death due to unrecognized CCHD was 4.5 days. The incidence of one of the 12 CCHD lesions is 2.3:1,000 live births. Pulse oximetry, a point of care testing, is the recognized screening method for CCHD.
The department proposes to add CCHD by emergency and permanent rules as one of the conditions for which newborns should be tested. To date, 35 states have added CCHD screening upon consideration of the federal Department of Health and Human Services' Discretionary Advisory Committee on Heritable Disorders in Newborns and Children addition of CCHD to its Recommended Uniform Screening Panel Core Conditions.
Organic Acidemias
The WSLH tests the blood samples of newborns for the conditions specified by the department in s.
DHS 115.04. The WSLH also tests for OA including propionic acidemia, methylmalonic acidemia, and related organic acidemias. Though these conditions met the criteria under s.
DHS 115.06 for being added to the list of congenital and metabolic disorders for which WSLH must test blood samples, the disorders were inadvertently omitted from subsequent revisions of s.
DHS 115.04. The department proposes to promulgate emergency and permanent rules to include OA in the list of conditions for which WSLH must test to correct the oversight.
OA is a group of inherited disorders that lead to an abnormal buildup of particular acids known as organic acids in the body. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Propionic acidemia affects about 1 in 100,000 people in the United States. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases. This condition occurs in an estimated 1 in 50,000 to 100,000 people.
Reporting
Section
253.13 (4) (b), Stats., as created by
2013 Wisconsin Act 135 provides that the department may require reporting in connection with any required infant tests for use in statistical data compilation and for evaluation of infant screening programs. The department may create rules for such reporting.
Alternatives
Section
253.13 (1), Stats., requires that every infant born in each hospital or maternity home, prior to its discharge, be tested for congenital and metabolic disorders, as specified in rules promulgated by the department. Therefore, there are no reasonable alternatives to the proposed rulemaking.
4. Detailed Explanation of Statutory Authority for the Rule (Including the Statutory Citation and Language)
(1)
Tests; requirements. The attending physician or nurse licensed under s.
441.15 shall cause every infant born in each hospital or maternity home, prior to its discharge therefrom, to be subjected to tests for congenital and metabolic disorders, as specified in rules promulgated by the department. If the infant is born elsewhere than in a hospital or maternity home, the attending physician, nurse licensed under s.
441.15, or birth attendant who attended the birth shall cause the infant, within one week of birth, to be subjected to these tests.
(4) (b) The department may require reporting in connection with the tests performed under this section for use in statistical data compilation and for evaluation of infant screening programs.
Section 227.11 (2) (a), Stats., reads: Rule-making authority is expressly conferred on an agency as follows:
(a) Each agency may promulgate rules interpreting the provisions of any statute enforced or administered by the agency, if the agency considers it necessary to effectuate the purpose of the statute, but a rule is not valid if the rule exceeds the bounds of correct interpretation. All of the following apply to the promulgation of a rule interpreting the provisions of a statute enforced or administered by an agency:
1. A statutory or nonstatutory provision containing a statement or declaration of legislative intent, purpose, findings, or policy does not confer rule-making authority on the agency or augment the agency's rule-making authority beyond the rule-making authority that is explicitly conferred on the agency by the legislature.
2. A statutory provision describing the agency's general powers or duties does not confer rule-making authority on the agency or augment the agency's rule-making authority beyond the rule-making authority that is explicitly conferred on the agency by the legislature.
3. A statutory provision containing a specific standard, requirement, or threshold does not confer on the agency the authority to promulgate, enforce, or administer a rule that contains a standard, requirement, or threshold that is more restrictive than the standard, requirement, or threshold contained in the statutory provision.
5. Estimate of Amount of Time that State Employees Will Spend Developing the Rule and of Other Resources Necessary to Develop the Rule
The department estimates that it will take approximately 160 hours to develop the proposed rules. This includes the time required for research and analysis, coordinating the advisory committee meetings, rule drafting, preparing any related documents, holding a public hearing, and communicating with affected persons and groups.
6. List with description of all entities that may be affected by the proposed rule
Newborns and their families, hospitals, clinics and laboratories on behalf of hospitals, nurse-midwives, midwives, other birth attendants, other birth facilities, physicians, nurses, insurers, the WSLH, the DHS Newborn Screening Umbrella Committee, and the Secretary's Advisory Committee on Newborn Screening.
7. Summary and Preliminary Comparison with any Existing or Proposed Federal Regulation That is Intended to Address the Activities to be Regulated by the Proposed Rule
There appears to be no existing or proposed federal regulations that address the activities to be regulated by the emergency rules.
8. Anticipated Economic Impact of Implementing the Rule
The department does not anticipate additional fees to cover the costs of testing for CCHD or acidemias. Thus, the proposed rules are anticipated to have little or no economic impact if promulgated.
Contact Person
Susan Uttech, Department of Health Services, Bureau Director, Community Health Promotion,
susan.uttech@wi.gov 608-267-3561.
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