Original Notice.

     Preproposal statement of inquiry was filed as WSR 02-03-136.

     Title of Rule: Chapter 246-650 WAC, Newborn screening.

     Purpose: This chapter identifies the list of mandatory disorders for newborn screening conducted by the Department of Health. The current list of disorders includes PKU, congenital hypothyroidism, congenital adrenal hyperplasia and hemoglobinopathies such as sickle cell disease. The purpose of the screening is to identify disorders that if not detected can cause severe mental and physical defects or death.

     Other Identifying Information: The proposed changes reflect the recommendations made by the Newborn Screening Advisory Committee. The legislature granted funding for the addition of the proposed disorders during the 2003 legislative session.

     Statutory Authority for Adoption: Chapters 70.83, 43.20 RCW.

     Summary: The proposed changes add five disorders to the list of mandatory disorders. The additional disorders are: Biotinidase deficiency, galactosemia, homocystinuria, maple syrup urine disease, and medium chain acyl-coA dehydrogenase deficiency. In addition, the proposal sets out privacy and security requirements for the handling and storage of the dried blood spots that are used to identify the disorders listed in chapter 246-650 WAC.

     Reasons Supporting Proposal: The disorders required to be screened for by these rules have not been updated since 1991. Medical and technological advances in recent years have made it possible to screen newborns for an increasing number of disorders. These disorders, if not detected early can cause severe mental and physical defects or death. The proposed privacy and security requirements, will allow the department to better assure parents and families of the security of this health information.

     Name of Agency Personnel Responsible for Drafting, Implementation and Enforcement: Mike Glass, 1610 N.E. 150th, Shoreline, WA 98155-9701, (206) 361-2890.

     Name of Proponent: Washington State Board of Health and Washington State Department of Health, governmental.

     Rule is not necessitated by federal law, federal or state court decision.

     Explanation of Rule, its Purpose, and Anticipated Effects: The proposed changes add five disorders to the list of mandatory disorders. The additional disorders are: Biotinidase deficiency, galactosemia, homocystinuria, maple syrup urine disease, and medium chain acyl-coA dehydrogenase deficiency. The proposal also establishes privacy and security measures for the storage and retention of specimens. The department of health tests for these disorders using the blood specimen that is routinely collected on all newborn infants before discharge from the hospital. The current list of disorders includes PKU, congenital hypothyroidism, congenital adrenal hyperplasia and hemoglobinopathies such as sickle cell disease. Expanding the list of disorders will assure that infants with these disorders are diagnosed early enough to prevent severe mental and physical defects and/or unexpected death.

     In addition, the proposal sets out privacy and security requirements for the handling and storage of the dried blood spots that are used to identify the disorders listed in chapter 246-650 WAC. As a result, the department will be better able to assure parents and families of the security of this health information.

     Proposal Changes the Following Existing Rules: WAC 246-650-001 Purpose, is expanded to reflect the addition of privacy provisions to the chapter. WAC 246-650-010 Definitions, add definitions for biotinidase deficiency, galactosemia, homocystinuria, maples syrup urine disease, medium chain acyl-coA dehydrogenase deficiency, and newborn screening specimen/information form. WAC 246-650-020 Performance of screening tests incorporates references to the new section on specimen retention and security, and references to the additional screening requirements. WAC 246-650-030 Implementation of screening sets a January 2004 date to begin the new screening requirements. WAC 246-650-040 Report to the board, includes minor editorial changes.

     No small business economic impact statement has been prepared under chapter 19.85 RCW. RCW 19.85.030 requires agencies to prepare a small business economic impact statement if a proposed rule imposes more than minor costs on businesses within an industry. This proposal imposes no new costs on small businesses; for this reason, the agency did not complete a small business economic impact statement.

     RCW 34.05.328 does not apply to this rule adoption. The proposed rule is significant under RCW 34.05.328 (5)(c)(iii)(C) because it significantly amends policy and the newborn screening program by adding to the list of mandatory disorders for newborn screening.

     Hearing Location: Yakima Convention Center, Yakima, Washington 98901, on October 15, 2003, at 10:30 a.m.

     Assistance for Persons with Disabilities: Contact Desiree Robinson by October 8, 2003, TDD (800) 833-6388 or (360) 236-4107.

     Submit Written Comments to: Mike Glass, 1610 N.E. 150th, Shoreline, WA 98155-9701, or via the internet at http://www3.doh.wa.gov/policyreview, fax (206) 361-4996, by October 10, 2003.

     Date of Intended Adoption: October 15, 2003.

August 19, 2003

Don Sloma

Executive Director

OTS-6529.1

AMENDATORY SECTION(Amending Order 124B, filed 12/27/90, effective 1/31/91)

WAC 246-650-001   Purpose.   The purpose of this chapter is to establish board rules to detect, in newborns, congenital disorders leading to developmental impairment or physical disabilities as required by RCW 70.83.050 and to provide protections for the confidentiality of information and human biological specimens submitted pursuant to these requirements.

[Statutory Authority: RCW 43.20.050. 91-02-051 (Order 124B), recodified as § 246-650-001, filed 12/27/90, effective 1/31/91. Statutory Authority: RCW 43.20.050 and 70.83.050. 87-11-040 (Order 303), § 248-103-001, filed 5/18/87.]

     (1) "Board" means the Washington state board of health.

     (2) "Biotinidase deficiency" means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The result is biotin deficiency, which if undetected and untreated, may result in severe neurological damage or death.

     (3) "Congenital adrenal hyperplasia" means a severe disorder of adrenal steroid metabolism which may result in death of an infant during the neonatal period if undetected and untreated.

     (((3))) (4) "Congenital hypothyroidism" means a disorder of thyroid function during the neonatal period causing impaired mental functioning if undetected and untreated.

     (((4))) (5) "Department" means the Washington state department of health.

     (((5))) (6) "Galactosemia" means a deficiency of enzymes that help the body convert the simple sugar galactose into glucose resulting in a buildup of galactose in the blood. If undetected and untreated, accumulated galactose may cause significant tissue and organ damage often leading to sepsis and death.

     (7) "Homocystinuria" means deficiency of enzymes necessary to breakdown the amino acid methionine resulting in a buildup of methionine in the blood and excretion of homocystine in the urine. If undetected and untreated may cause thromboembolism, mental and physical disabilities.

     (8) "Maple syrup urine disease" (MSUD) means deficiency of enzymes necessary to breakdown the branch chained amino acids leucine, isoleucine, and valine resulting in a buildup of these and metabolic intermediates in the blood. If undetected and untreated may result in mental and physical retardation or death.

     (9) "Medium chain acyl-coA dehydrogenase deficiency" (MCADD) means deficiency of an enzyme (medium chain acyl-coA dehydrogenase) necessary to breakdown medium chain length fatty acids. If undetected and untreated, fasting, infection or stress may trigger acute hypoglycemia leading to physical and neurological damage or death.

     (10) "Newborn" means an infant born in a hospital in the state of Washington prior to discharge from the hospital of birth or transfer.

     (((6))) (11) "Newborn screening specimen/information form" means the information form provided by the department including the filter paper portion and associated dried blood spots. A specimen/information form containing patient information is "Health care information" as defined by the Uniform Healthcare Information Act, RCW 70.02.010(6).

     (12) "Phenylketonuria" (PKU) means a ((metabolic disorder characterized by abnormal phenylalanine metabolism causing impaired mental functioning if undetected and untreated)) deficiency of an enzyme necessary to convert the amino acid phenylalanine into tyrosine resulting in a buildup of phenylalanine in the blood and excretion of phenylketones in the urine. If undetected and untreated may cause severely impaired mental functioning.

     (((7))) (13) "Hemoglobinopathy" means a hereditary blood disorder caused by genetic alteration of hemoglobin which results in characteristic clinical and laboratory abnormalities and which leads to developmental impairment or physical disabilities.

     (((8))) (14) "Significant screening test result" means a laboratory test result indicating a suspicion of abnormality and requiring further diagnostic evaluation of the involved infant for the specific disorder.

[Statutory Authority: RCW 43.20.050. 91-02-051 (Order 124B), recodified as § 246-650-010, filed 12/27/90, effective 1/31/91. Statutory Authority: Chapters 43.20 and 70.83 RCW. 91-01-032 (Order 114B), § 248-103-010, filed 12/11/90, effective 1/11/91. Statutory Authority: RCW 43.20.050 and 70.83.050. 87-11-040 (Order 303), § 248-103-010, filed 5/18/87.]

     (a) Inform parents or responsible parties, by providing a departmental information pamphlet or by other means, of:

     (i) The purpose of screening newborns for congenital disorders,

     (ii) Disorders of concern as listed in WAC 246-650-020(2),

     (iii) The requirement for newborn screening, and

     (iv) The legal right of parents or responsible parties to refuse testing because of religious tenets or practices as specified in RCW 70.83.020, and

     (v) The specimen storage, retention and access requirements specified in WAC 246-650-050.

     (b) Obtain a blood specimen for laboratory testing as specified by the department from each newborn prior to discharge from the hospital or, if not yet discharged, no later than five days of age.

     (c) Use department-approved newborn screening specimen/information forms and directions for obtaining specimens.

     (d) Enter all identifying and related information required on the specimen/information form ((attached to the specimen)) following directions of the department.

     (e) In the event a parent or responsible party refuses to allow newborn ((metabolic)) screening, obtain signatures from parents or responsible parties on the department specimen/information form.

     (f) Forward the specimen/information form with dried blood spots or signed refusal ((with the attached identifying forms)) to the Washington state public health laboratory no later than the day after collection or refusal signature.

     (2) Upon receipt of specimens, the department shall:

     (a) Perform appropriate screening tests for:

     (i) Phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, and hemoglobinopathies,

     (ii) Biotinidase deficiency, galactosemia, homocystinuria, maple syrup urine disease and medium chain acyl-coA dehydrogenase deficiency according to the schedule in WAC 246-650-030;

     (b) Report significant screening test results to the infant's attending physician or family if an attending physician cannot be identified; and

     (c) Offer diagnostic and treatment resources of the department to physicians attending infants with presumptive positive screening tests within limits determined by the department.

[Statutory Authority: RCW 43.20.050 and 70.83.050. 92-02-019 (Order 225B), § 246-650-020, filed 12/23/91, effective 1/23/92. Statutory Authority: RCW 43.20.050. 91-02-051 (Order 124B), recodified as § 246-650-020, filed 12/27/90, effective 1/31/91. Statutory Authority: Chapters 43.20 and 70.83 RCW. 91-01-032 (Order 114B), § 248-103-020, filed 12/11/90, effective 1/11/91. Statutory Authority: RCW 43.20.050 and 70.83.050. 87-11-040 (Order 303), § 248-103-020, filed 5/18/87.]

     (c) Follow-up procedures and the results of such follow-up procedures)) implement screening tests for biotinidase deficiency, galactosemia, homocystinuria, maple syrup urine disease and medium chain acyl-coA dehydrogenase deficiency beginning in January 2004. Screening for these disorders shall be fully implemented as quickly as feasible and not later than June 2004.

[Statutory Authority: RCW 43.20.050. 91-02-051 (Order 124B), recodified as § 246-650-030, filed 12/27/90, effective 1/31/91. Statutory Authority: Chapters 43.20 and 70.83 RCW. 91-01-032 (Order 114B), § 248-103-040, filed 12/11/90, effective 1/11/91.]

     (1) The costs of tests as charged by the department;

     (2) The results of each category of tests, by county of birth and ethnic group, as reported on the newborn screening form and, if available, birth certificates; and

     (3) Follow-up procedures and the results of such follow-up procedures.

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     (1) Storage: The specimen/information forms shall be kept at ambient temperature in secured storage to preserve their confidentiality and prevent access by unauthorized persons.

     (2) Retention/destruction: The specimen/information form shall be retained until the child is twenty-one years old in accordance with the requirements for hospitals specified in RCW 70.41.190. After this time the form will be destroyed.

     EXCEPTION FOR PARENTAL REQUEST: Upon request of a parent or guardian (or a patient who is over the age of eighteen years), the department will destroy the specimen/information form only after all required screening tests have been performed and if the patient's screening/clinical status related to these tests is not in question.

     (3) Access: Access to stored specimen/information forms shall be restricted to department employees and those contractors or others approved by the department as necessary to meet specific program needs. Access is contingent upon compliance with all applicable federal and state laws, regulations, and policies safeguarding the privacy and confidentiality of medical information. The department shall assure that those granted access understand the confidentiality requirements and have a signed confidentiality agreement on file.

     (4) Release: Dried blood spot samples and specimen information may only be released under the following conditions:

     (a) A sample from a specimen and copies of associated information (patient information and testing results, if requested) may be released to:

     (i) A health care provider at the request of the patient or their legal representative after completing and signing a written request form approved by the department. The release form must be provided to the director of newborn screening before the request will be fulfilled.

     (ii) A researcher with the written, informed consent of the patient or their patient's legal representative as part of a research project that has been reviewed and approved by the DOH/DSHS human subjects research review board and the secretary or designee of the department of health.

     (iii) A named person in a legally executed subpoena following review and approval of the state attorney general.

     (iv) A person to whom release is mandated by order of a court of competent jurisdiction.

     (b) Anonymous samples may be released if the department determines that the intended use has significant potential health benefit and that each of the following criteria have been met:

     (i) The investigation design is adequate to assure anonymity will be preserved.

     (ii) All newborn screening tests have been completed and the status of the infant is resolved.

     (iii) At least one fully adequate spot will remain after the anonymous sample has been taken.

     (iv) Sufficient resources (personnel) are available for extracting the samples.

     (v) The DOH/DSHS human subjects research review board has reviewed and approved the investigation. This requirement may be waived by the department for a very small (i.e., less than 100 sample) pilot study where the intent is to evaluate a testing tool, as opposed to an evaluation where the intent is to measure some characteristic of a population.

     (5) Notification: The department shall notify parents of the specimen storage, retention/destruction and access requirements through the department's newborn screening informational pamphlet.

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