DAR File No. 28074

Health, Community and Family Health Services, Children with Special Health Care Needs

R398-1

Newborn Screening

NOTICE OF PROPOSED RULE

DAR File No.: 28074
Filed: 07/06/2005, 11:03
Received by: NL

RULE ANALYSIS

Purpose of the rule or reason for the change:

This change is to expand the number of disorders for which newborns are screened in Utah.

Summary of the rule or change:

The amendments clarify use, retention, and release of residual blood spots and broaden the number of disorders for which the blood will be screened.

State statutory or constitutional authorization for this rule:

Section 26-10-6

Anticipated cost or savings to:

the state budget:

The change is budget neutral. Increased fees will cover increased cost to the state for testing. The state may save Medicaid costs in an uncertain amount for children who would need more expensive medical care if the disorders were not identified through testing.

local governments:

The increase cost of $18,802 will initially be borne by the county operated hospitals that will then collect the kit fee from third party payers (including Medicaid) and patients.

other persons:

The cost will be $1,700,000 annually. The average annual anticipated savings, based on expected incidence and mortality and morbidity outcome, is $15,000,000. Of that $15,000,000, $1,732,659 is savings in treatment costs and $13,421,303 savings in mortality costs.

Compliance costs for affected persons:

The compliance cost will be an increase of $34 per newborn screened.

Comments by the department head on the fiscal impact the rule may have on businesses:

The 2005 Legislature approved an increase in fees to permit this expansion of newborn screening. Fiscal impact was carefully reviewed at that time by the Legislature. This rule implements the expansion. Costs to business through insurance reimbursement for this screening is expected to be minimal compared to the benefit from these tests. David N. Sundwall, MD, Executive Director

The full text of this rule may be inspected, during regular business hours, at the Division of Administrative Rules, or at:

Direct questions regarding this rule to:

Fay Keune at the above address, by phone at 801-584-8256, by FAX at 801-536-0966, or by Internet E-mail at fkeune@utah.gov

Interested persons may present their views on this rule by submitting written comments to the address above no later than 5:00 p.m. on:

08/31/2005

This rule may become effective on:

09/01/2005

Authorized by:

David N. Sundwall, Executive Director

RULE TEXT

R398. Health, Community and Family Health Services, Children with Special Health Care Needs.

R398-1. Newborn Screening.

R398-1-1. Purpose and Authority.

(1) The purpose of this rule is to facilitate early detection, prompt referral, early treatment, and prevention of disability and mental retardation in infants with certain metabolic[ disorders], endocrine, and hematologic disorders.

(2) Authority for the Newborn Screening program and promulgation of rules to implement the program are found in Sections 26-1-30(2)(a), (b), (c), (d), and (g) and 26-10-6.

R398-1-2. Definitions.

(1) "Abnormal test result" means a result that is outside of the normal range for a given test.

(2) "Appropriate specimen" means a blood specimen submitted on the Utah Newborn Screening Kit form [which]that conforms with the criteria in R398-1-8.

(3) "Blood spot" means a clinical specimen(s) collected by carefully applying a few drops of blood, freshly drawn by heel stick with a lancet from infants, onto the filter paper (specially manufactured absorbent specimen collection paper) of the Newborn Screening Kit.[(3) "Congenital Hypothyroidism" means a disorder in which the newborn is unable to secrete or produce thyroxine normally.]

(4) "Department" means the Utah Department of Health.

(5) "Follow up" means the tracking of all newborns with an abnormal result, [inconclusive result, ]inadequate or unsatisfactory specimen or a [QNS]quantity not sufficient specimen through to a normal result or confirmed diagnosis and referral.

[(6) "Galactosemia" means a recessively inherited genetic disorder in which the individual is completely or partially incapable of normal metabolism of galactose due to a deficiency of the galactose-1-phosphate uridyltransferase enzyme.

(7)](6) "Inadequate specimen" means a specimen determined by the Newborn Screening Laboratory to be unacceptable for testing.

[(8) "Inconclusive result" means a specimen that has no growth on the Gutherie inhibition test for phenylketonuria.

(9)](7) "Institution" means a hospital, alternate birthing facility, or midwife service in Utah which provides maternity or nursery services or both.

([10]8) "Medical home/practitioner" means a person licensed by the Department of Commerce, Division of Occupational and Professional Licensing to practice medicine, naturopathy, or chiropractic or to be a nurse practitioner, as well as the licensed or unlicensed midwife who takes responsibility for delivery or the on-going health care of a newborn.

(9) "Metabolic diseases" means those diseases due to an inborn error of metabolism, for which the Department of Health shall screen all infants.

([11]10) "Newborn Screening Kit" means the department's demographic form with attached Food and Drug Administration (FDA)-approved filter paper medical collection device.[

(12) "Phenylketonuria" means a recessively inherited genetic disorder in which the individual is completely or partially incapable of normal metabolism of phenylalanine due to a deficiency of the phenylalanine hydroxylase enzyme.

(13) "Practitioner" means a person licensed by the Department of Commerce, Division of Occupational and Professional Licensing to practice medicine, naturopathy, or chiropractic or to be a nurse practitioner, as well as the licensed or unlicensed midwife who takes responsibility for delivery or the health care of a newborn.]

([14]11) "Quantity not sufficient (QNS specimen)" means a specimen that has been partially tested but requires more blood to complete the full testing.[

(15) "Hemoglobinopathy" means a recessively inherited genetic defect of the structure of hemoglobin found in red blood cells.]

(12) "Unsatisfactory specimen" means an inadequate specimen.

R398-1-3. Implementation.

(1) Each newborn in the state of Utah shall submit to the Newborn Screening testing, except as provided in Section R398-1-11.

(2) The Department of Health, after consulting with the Genetic Advisory Committee, will determine the Newborn Screening battery of tests based on demonstrated effectiveness and available funding.

R398-1-4. Responsibility for Collection of the First Specimen.

(1) If the newborn is born in an institution, the institution must collect and submit an appropriate specimen, unless transferred to another institution prior to 48 hours of age.

(2) If the newborn is born outside of an institution, the practitioner or other person primarily responsible for providing assistance to the mother at the birth must arrange for the collection and submission of an appropriate specimen.

(3) If there is no other person in attendance of the birth, the parent or legal guardian must arrange for the collection and submission of an appropriate specimen.

(4) If the newborn is transferred to another institution prior to 48 hours of age, the receiving health institution must collect and submit an appropriate specimen.

R398-1-5. Timing of Collection of First Specimen.

The first specimen shall be collected between 48 hours and five days of age. Except:

(1) If the newborn is discharged from an institution before 48 hours of age, an appropriate specimen must be collected within four hours of discharge.

(2) If the newborn is to receive a blood transfusion or dialysis, the appropriate specimen must be collected immediately before the procedure, except in emergency situations where time does not allow for collection of the specimen. If the newborn receives a blood transfusion or dialysis prior to collecting the appropriate specimen the following must be done:

(a) Repeat the collection and submission of an appropriate specimen 7-10 days after last transfusion or dialysis for [phenylketonuria and congenital hypothyroidism]a second screening specimen;

(b) Repeat the collection and submission of an appropriate specimen 120 days after last transfusion or dialysis for [galactosemia]a first screening specimen.

R398-1-6. Parent Education.

The person who has responsibility under Section R398-1-4 shall inform the parent or legal guardian of the required collection and submission and the disorders screened. That person shall give the second half of the Newborn Screening Kit to the parent or legal guardian with instructions on how to arrange for collection and submission of the second specimen.

R398-1-7. The Second Specimen.

A second specimen shall be collected between 7 and 28 days of age.

(1) The parent or legal guardian shall arrange for the collection and submission of the appropriate specimen through an institution, medical home/practitioner, or local health department.

(2) If the newborn's first specimen was obtained prior to 48 hours of age, the second specimen shall be collected by fourteen days of age.

(3) If the newborn is hospitalized beyond the seventh day of life, the institution shall arrange for the collection and submission of the appropriate specimen.

R398-1-8. Criteria for Appropriate Specimen.

(1) The institution or medical home/practitioner collecting the appropriate specimen must:

(a) Use only a Newborn Screening Kit purchased from the [d]Department. The fee for the kit is set by the Legislature in accordance with Section 26-1-6;

(b) Correctly store the Newborn Screening Kit;

(c) Not use the Newborn Screening Kit beyond the date of expiration;

(d) Not alter the Newborn Screening Kit in any way;

(e) Complete all information on the Newborn Screening Kit. If the infant is being adopted, the following may be omitted: infant's last name, birth mother's name, address, and telephone number. Infant must have an identifying name, and a contact person must be listed;

(f) Apply sufficient blood to the filter paper;

(g) Not contaminate the filter paper with any foreign substance;

(h) Not tear, perforate, scratch, or wrinkle the filter paper;

(i) Apply blood evenly to one side of the filter paper and be sure it soaks through to the other side;

(j) Apply blood to the filter paper in a manner that does not cause caking;

(k) Collect the blood in such a way as to not cause serum or tissue fluids to separate from the blood;

(l) Dry the specimen properly;

(m) Not remove the filter paper from the Newborn Screening Kit.

(2) Submit the completed Newborn Screening Kit to the Utah Department of Health, Newborn Screening Laboratory, 46 North Medical Drive, Salt Lake City, Utah 84113.

(a) The Newborn Screening Kit shall be placed in an envelope large enough to accommodate it without folding the kit.

(b) If mailed, the Newborn Screening Kit shall be placed in the U.S. Postal system within 24 hours of the time the appropriate specimen was collected.

(c) If hand-delivered, the Newborn Screening Kit shall be delivered within 48 hours of the time the appropriate specimen was collected.

R398-1-9. Abnormal Result.

(1) If the [d]Department finds an abnormal result, the [d]Department shall inform the medical home/practitioner noted on the screening specimen form.

(2) The [d]Department may require the medical home/practitioner to collect and submit additional specimens and conduct additional diagnostic tests.

(3) The medical home/practitioner shall collect and submit specimens within the time frame and in the manner instructed by the Department for the particular diagnostic test.

(4) As instructed by the Department or the medical home/practitioner, the parent or legal guardian of a newborn identified with an abnormal test result shall promptly take the newborn to the Department or medical home/practitioner [or the Department ]to have an appropriate specimen collected.

(5) [A]The medical [care provider ]home/practitioner who makes the final diagnosis shall complete a diagnostic form and return it to the [d]Department within 30 days of the notification letter from the Department.

R398-1-10. [Inconclusive Result, ]Inadequate or Unsatisfactory Specimen, or QNS Specimen.

(1) If the [d]Department finds an [inconclusive result, ]inadequate or unsatisfactory specimen, or QNS specimen, the [d]Department shall inform the medical home/practitioner noted on the screening specimen form.

(2) The medical home/practitioner shall submit an appropriate specimen in accordance with Section R398-1-8. The specimen shall be collected and submitted within two days of notice, and the form shall be labeled for testing as directed by the [d]Department.

(3) The parent or legal guardian of a newborn identified with an [inconclusive result, ]inadequate or unsatisfactory specimen or QNS specimen shall promptly take the newborn to the medical home/practitioner to have an appropriate specimen collected.

R398-1-11. Testing Refusal.

A parent or legal guardian may refuse to allow the required testing for religious reasons only. The medical home/practitioner or institution shall file in the newborn's record documentation of refusal, reason, education of family about the disorders, and signed waiver by both parents or legal guardian. The practitioner or institution shall submit a copy of the refusal to the Utah Department of Health, Family Health Services, Newborn Screening Program, P.O. Box 144[660]710, Salt Lake City, UT 84114-4[660]710.

R398-1-12. Access to Medical Records.

The [d]Department shall have access to the medical records of a newborn in order to identify medical home/practitioner, reason appropriate specimen was not collected, or to collect missing demographic information.

R398-1-13. Noncompliance by Parent or Legal Guardian.

If the medical home/practitioner or institution has information that leads it to believe that the parent or legal guardian is not complying with this rule, the medical home/practitioner or institution shall report such noncompliance as medical neglect to the [d]Department.[

R398-1-14. Test Changes.

The department, after consulting with the Genetic Advisory Committee, may make additions or changes to the Newborn Screening battery of tests.]

R398-1-14. Confidentiality and Related Information.

(1) The Department releases test results to the institution of birth for first specimens and to the medical home/practitioner, as noted on the demographic form, for the second specimen.

(2) The Department notifies the medical home/practitioner noted on the demographic form if the test results are abnormal, inconclusive or QNS.

(3) The Department releases information to the medical home/practitioner noted on the demographic form for timely and effective referral for diagnostic services or to ensure appropriate management for individuals with confirmed diagnosis.

(4) Upon request of the parent or guardian, the Department may release results as directed in the release.

(5) All requests for test results or records are governed by Utah Code Title 26, Chapter 3.

(6) The Department may release information in summary, statistical, or other forms that do not identify particular individuals.

(7) A testing laboratory that analyzes newborn screening samples for the Department may not release information or samples without the Department's express written direction.

R398-1-15. Blood Spots.

(1) Blood spots become the property of the Department.

(2) The Department includes in parent education materials information about the Department's policy on the retention and use of residual newborn blood spots.

(3) The Department may use residual blood spots for newborn screening quality assessment activities.

(4) The Department may release blood spots for research upon the following:

(a) The person proposing to conduct the research applies in writing to the Department for approval to perform the research. The application shall include a written protocol for the proposed research, the person's professional qualifications to perform the proposed research, and other information if needed and requested by the Department. When appropriate, the proposal will then be submitted to the Department's IRB for approval.

(b) The Department shall de-identify blood spots it releases unless it obtains informed consent of a parent or guardian to release identifiable samples.

(c) All research must be first approved by the Department's IRB.

R398-1-16. Retention of Blood Spots.

(1) The Department retains blood spots for a minimum of 90 days.

(2) Prior to disposal, the Department shall de-identify and autoclave the blood spots.

R398-1-17. Reporting of Disorders.

If a diagnosis is made for one of the disorders screened by the Department that was not identified by the Department, the medical home/practitioner shall report it to the Department.

KEY: health care, newborn screening

[August 7, 2001]2005

Notice of Continuation September 22, 2004

26-1-6

26-1-30(2)(a), (b), (c), (d), and (g)

26-10-6

ADDITIONAL INFORMATION

PLEASE NOTE:

• Text to be deleted is struck through and surrounded by brackets (e.g., [example]). Text to be added is underlined (e.g., example). Some browsers may not depict some or any of these attributes on the screen or when the document is printed.
• Please see the DISCLAIMER regarding information available from state web pages.

For questions regarding the content or application of this rule, please contact Fay Keune at the above address, by phone at 801-584-8256, by FAX at 801-536-0966, or by Internet E-mail at fkeune@utah.gov

For questions about the rulemaking process, please contact the Division of Administrative Rules (801-538-3764). Please Note: The Division of Administrative Rules is NOT able to answer questions about the content or application of these administrative rules.