SS 148-20

DEPARTMENT OF HEALTH SERVICES Office of Legal Counsel F-02315 (04/2018)

STATE OF WISCONSIN

STATEMENT OF SCOPE WISCONSIN DEPARTMENT OF HEALTH SERVICES

CHAPTER: DHS 115

RELATING TO: screening newborns for congenital and Metabolic Disorders

RULE TYPE: Emergency and permanent

SCOPE TYPE: Original

FINDINGS OF EMERGENCY:

The department of health services (“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 444.15, Stat., 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.

The immediate addition of Pompe disease is important to the quality of life, well-being, and public health of Wisconsin residents. The earliest diagnosis and initiation of treatment of Pompe can make a difference between an infant’s survival and positive outcomes and death and severe disability. Infantile-onset Pompe disease presents with failure to thrive, muscle weakness, hypotonia, respiratory distress and cardiomyopathy at a median age of 4 months. Untreated, the condition is generally fatal by 2 years of age. Initiation of treatment prior to symptom onset improves survival and outcomes. Late-onset Pompe disease, which is also diagnosed by the newborn screening test, can be treated to slow or prevent development of progression of disease.

4.

Preservation of the health, safety, and welfare of newborns and infants thereby necessitates promulgating an emergency rule prior to the time it would take effect if the department complied with all of the procedures under Ch. 227, Stats.

SUMMARY

1.

Description of rule objective/s

The objective of the rule is to add Pompe disease to the panel of congenital and metabolic disorders for which newborns shall be tested in accordance with s. 253.13 (1). The addition of Pompe disease to the newborn screening panel was based on the consideration and recommendations of the Wisconsin Newborn Screening Program (“NBS”) and the Secretary’s Advisory Committee on Newborn Screening (“SACNBS”). Based upon those recommendations, Secretary-designee Palm approved adding Pompe disease to the newborn screening panel.

2.

Existing policies relevant to the rule

Section 253.13 (1), Stats., requires every infant born in a hospital or maternity home or other place to be screened for congenital and metabolic disorders as specified in rule by the department. In order to fulfill its statutory duty to identify those disorders by rule, s, DHS 115.06 provides that the department seek “the advice and guidance of medical consultants, staff of the state laboratory and other persons who have expertise and experience in dealing with congenital and metabolic disorders” to determine whether to add or delete disorders to the newborn screening panel.

The NBS Umbrella Committee and its subcommittees—which are comprised of a variety of medical practitioners, experts on genetics, pediatrics and medical ethics, and various advocacy organizations—meet regularly to review and evaluate program processes and make recommendations to the department’s secretary with respect to adding or deleting a condition from the newborn screening panel. The NBS Umbrella Committee recommendations are then forwarded to the SACNBS—comprised of experts on medicine, statistics, epidemiology, medical ethics, and legal, social, and policy—which advises the secretary on policy issues related to newborn screening panel of conditions and makes recommendations on additions to the newborn screening panel.

The SACNBS recommendations are then forwarded to the department’s secretary, who makes a final determination based on the NBS Umbrella Committee and SACNBS recommendations.

3.

Policies proposed to be included in the rule

Pompe disease is a rare (approximately 1 in 40,000 births), inherited condition. It is considered a lysosomal storage disorder because people with Pompe have lysosomes (the recycling center of each cell) that cannot break down certain types of complex sugars. Pompe disease is caused by mutations in a gene that make an enzyme called acid alpha-1, 4-glugosidase (GAA) or acid maltase. Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. The GAA gene is responsible for making this enzyme. Without the proper function of GAA, glycogen that enters into the lysosome is not broken down, but continues to build up and disrupts the functioning of cells. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.

On August 26, 2019 Pompe disease was nominated by a family with children who have Pompe Disease and cosponsored by another family advocate. A NBS subcommittee and the NBS Umbrella Committee considered the nomination at meetings on September 6 and December 6, 2019, and recommended adding Pompe disease to the newborn screening panel. The NBS Umbrella Committee recommendation was then forwarded to the SACNBS, which considered the nomination on March 6, 2020, and voted in support of adding Pompe disease to the newborn screening panel. On May 26, 2020, Secretary-designee Palm approved the SACNBS’s recommendation to add Pompe disease to the newborn screening panel.

4.

Analysis of policy alternative

Section 253.13 (1), Stats. requires that every infant born in each hospital or maternity home, prior to the infant’s discharge, be tested for congenital and metabolic disorders, as specified in rules promulgated by the department. Experts on the NBS Umbrella Committee and SACNBS recommended adding Pompe disease to the newborn screening panel, and Secretary-designee Palm approved adding it to that panel and promulgating a rule to add Pompe disease to the newborn screening panel.[1] Therefore, there are no reasonable alternatives to the proposed rulemaking.

5.

Statutory authority for the rule

a.

Explanation of authority to promulgate the proposed rule

The department’s authority to promulgate the proposed rule is provided in ss. 227.11 (2) and 253.13 (1) and (2), Stats.

b.

Statute/s that authorize/s the promulgation of the proposed rule

Section 227.11 (2), Stats:

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.

(b) Each agency may prescribe forms and procedures in connection with any statute enforced or administered by it, if the agency considers it necessary to effectuate the purpose of the statute, but this paragraph does not authorize the imposition of a substantive requirement in connection with a form or procedure.

(c) Each agency authorized to exercise discretion in deciding individual cases may formalize the general policies evolving from its decisions by promulgating the policies as rules which the agency shall follow until they are amended or repealed. A rule promulgated in accordance with this paragraph is valid only to the extent that the agency has discretion to base an individual decision on the policy expressed in the rule.

(d) An agency may promulgate rules implementing or interpreting a statute that it will enforce or administer after publication of the statute but prior to the statute’s effective date. A rule promulgated under this paragraph may not take effect prior to the effective date of the statute that it implements or interprets.

(e) An agency may not inform a member of the public in writing that a rule is or will be in effect unless the rule has been filed under s. 227.20 or unless the member of the public requests that information.

Section 253.13 (1) and (2), Stats:

(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.

(2) Tests; diagnostic, dietary and follow-up counseling program; fees. The department shall contract with the state laboratory of hygiene to perform the tests specified under this section and to furnish materials for use in the tests. The department shall provide necessary diagnostic services, special dietary treatment as prescribed by a physician for a patient with a congenital disorder as identified by tests under sub. (1) or (1m) and follow-up counseling for the patient and his or her family. The department shall impose a fee, by rule, for tests performed under this section sufficient to pay for services provided under the contract. The department shall include as part of the fee established by rule amounts to fund the provision of diagnostic and counseling services, special dietary treatment, and periodic evaluation of infant screening programs, the costs of consulting with experts under sub. (5), the costs of administering the hearing screening program under s. 253.115, and the costs of administering the congenital disorder program under this section and shall credit these amounts to the appropriation accounts under s. 20.435 (1) (ja) and (jb).

c.

Statute/s or rule/s that will affect the proposed rule or be affected by it

DHS 115.06 Criteria for adding and deleting conditions.