DAR File No. 31350

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

R398-1

Newborn Screening

NOTICE OF PROPOSED RULE

DAR File No.: 31350
Filed: 05/01/2008, 01:12
Received by: NL

RULE ANALYSIS

Purpose of the rule or reason for the change:

Several nationally recognized authorities, including the March of Dimes, the American College of Medical Genetics have recommended screening for cystic fibrosis. The Department of Health's Genetics Advisory Committee and, Newborn Screening Subcommittee have also requested that cystic fibrosis be added to the list of disorders that are screened.

Summary of the rule or change:

Screening for cystic fibrosis is added in Subsection R398-1-3(3). Changes to Section R398-1-12 require hospitals and birthing centers to enter screening form numbers in the Vital Records and newborn hearing screening systems. Changes in Section R398-1-9 clarify notification and payment responsibilities. A new Section R398-1-18 is added as required by statute. There are many technical changes throughout the rule.

State statutory or constitutional authorization for this rule:

Section 26-1-6 and Subsections 26-1-30(2)(a), (b), (c) and 26-10-6 (d), and (g)

Anticipated cost or savings to:

the state budget:

The cost to Medicaid will be $142,400 based on 2006 Medicaid eligible deliveries. This is calculated as $8 X 17,800 Medicaid eligible deliveries. Medical literature indicates that screening for cystic fibrosis will identify between 3 and 4 cases in 17,800 births. Early identification results in a decrease in hospitalizations and testing to identify sick newborns with the disorder. Each child not identified through newborn screening requires between $250,000 and $1,250,000 in hospitalizations and testing before cystic fibrosis is identified. Estimated aggregate savings range from cost neutral to between $750,000 and $5,000,000.

local governments:

There is no impact on local governments. Additional costs for the cystic fibrosis screening are passed on to the Medicaid, third party payers and others.

small businesses and persons other than businesses:

There is no impact on small businesses. Additional costs for the cystic fibrosis screening are passed on to the Medicaid, third party payers and others. The additional cost to persons other than businesses is $284,800 based on 2006 non-Medicaid deliveries. This is calculated as $8 X 35,600 births. Medical literature indicates that screening for cystic fibrosis will identify between seven and nine cases in 35,600 births. Early identification results in a decrease in hospitalizations and testing to identify sick newborns with the disorder. Each child not identified through newborn screening requires between $250,000 and $1,250,000 in hospitalizations and testing before cystic fibrosis is identified. Estimated aggregate savings range from cost neutral to between $1,750,000 and $11,250,000.

Compliance costs for affected persons:

The compliance cost will be $8 per newborn screened. The department does not have sufficient data to estimate the cost to any particular third party payer who pays for the screenings.

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

The $8 cost per test will be shared by many persons and businesses to identify a relatively small number of cases of cystic fibrosis. The cost to the families of those identified will be much less and the entire health care system will not have to bear the large hospitalization and testing costs to diagnose. This rule is important for the public health and that the costs are justified. 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:

Health
Community and Family Health Services, Children with Special Health Care Needs
44 N MEDICAL DR
SALT LAKE CITY UT 84113

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:

06/16/2008

This rule may become effective on:

06/23/2008

Authorized by:

David N. Sundwall, Executive Director

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 genetic[metabolic,] and 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 that conforms with the criteria in R398-1-8.

(3) "Blood spot" means a clinical specimen(s) submitted on the filter paper (specially manufactured absorbent specimen collection paper) of the Newborn Screening form using the heel stick method[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].

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

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

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

(7) "Indeterminate result" means a result that requires another specimen to determine normal or abnormal status.

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

([8]9) "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]10) "Metabolic diseases" means those diseases screened by the Department which are caused by[due to] an inborn error of metabolism[, for which the Department of Health shall screen all infants].

(1[0]1) "Newborn Screening [Kit]form" means the [d]Department's demographic form with attached Food and Drug Administration (FDA)-approved filter paper medical collection device.

(1[1]2) "Quantity not sufficient specimen" or "[(]QNS specimen[)]" means a specimen that has been partially tested but [requires more]does not have enough blood available to complete the full testing.

(1[2]3) "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. Disorders for which the infant blood is screened are:

(a) Biotinidase Deficiency;

(b) Congenital Adrenal Hyperplasia;

(c) Congenital Hypothyroidism;

(d) Galactosemia;

(e) Hemoglobinopathy;

(f) Amino Acid Metabolism Disorders:

(i) Phenylketonuria (phenylalanine hydroxylase deficiency and variants);

(ii) Tyrosinemia type 1(fumarylacetoacetate hydrolase deficiency);

(iii) Tyrosinemia type 2 (tyrosine amino transferase deficiency);

(iv) Tyrosinemia type 3 (4-OH-phenylpyruvate dioxygenase deficiency);

(v) Maple Syrup Urine Disease (branched chain ketoacid dehydrogenase deficiency);

(vi) Homocystinuria (cystathionine beta synthase deficiency);

(vii) Citrullinemia (arginino succinic acid synthase deficiency);

(viii) Argininosuccinic aciduria (arginino succinic acid lyase deficiency);

(ix) Argininemia (arginase deficiency);

(x) Hyperprolinemia type 2 (pyrroline-5-carboxylate dehydrogenase deficiency);

(g) Fatty Acid Oxidation Disorders:

(i) Medium Chain Acyl CoA Dehydrogenase Deficiency;

(ii) Very Long Chain Acyl CoA Dehydrogenase Deficiency;

(iii) Short Chain Acyl CoA Dehydrogenase Deficiency;

(iv) Long Chain 3-OH Acyl CoA Dehydrogenase Deficiency;

(v) Short Chain 3-OH Acyl CoA Dehydrogenase Deficiency;

(vi) Primary carnitine deficiency (OCTN2 carnitine transporter defect);

(vii) Carnitine Palmitoyl Transferase I Deficiency;

(viii) Carnitine Palmitoyl Transferase 2 Deficiency;

(ix) Carnitine Acylcarnitine Translocase Deficiency;

(x) Multiple Acyl CoA Dehydrogenase Deficiency;[ and]

(h) Organic Acids Disorders:

(i) Propionic Acidemia (propionyl CoA carboxylase deficiency);

(ii) Methylmalonic acidemia (multiple enzymes);

(iii) Isovaleric acidemia (isovaleryl CoA dehydrogenase deficiency);

(iv) 2-Methylbutiryl CoA dehydrogenase deficiency;

(v) Isobutyryl CoA dehydrogenase deficiency;

(vi) 2-Methyl-3-OH-butyryl-CoA dehydrogenase deficiency;

(vii) Glutaric acidemia type 1 (glutaryl CoA dehydrogenase deficiency);

(viii) 3-Methylcrotonyl CoA carboxylase deficiency;

(ix) 3-Ketothiolase deficiency;

(x) 3-Hydroxy-3-methyl glutaryl CoA lyase deficiency;[ and]

(xi) Holocarboxylase synthase (multiple carboxylases) deficiency; and

(i) Cystic Fibrosis.

 

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 the newborn is 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.

 

R398-1-6. 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]form to the parent or legal guardian with instructions on how to arrange for collection and submission of the second specimen.

 

R398-1-7. [The]Timing of Collection of 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 second 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 second 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]form purchased from the Department. The fee for the [kit]Newborn Screening form is set by the Legislature in accordance with Section 26-1-6;

(b) Correctly store the Newborn Screening [Kit]form;

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

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

(e) Complete all information on the Newborn Screening [Kit]form. 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]form.

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

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

(b) If mailed, the Newborn Screening [Kit]form 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]form shall be delivered within 48 hours of the time the appropriate specimen was collected.

 

R398-1-9. Abnormal Result.

(1)(a) If the Department finds an abnormal result consistent with a disease state, the Department shall [inform]send written notice to the medical home/practitioner noted on the Newborn S[s]creening [specimen ]form.

(b) If the Department finds an indeterminate result on the first screening, the Department shall determine whether to send a notice to the medical home/practitioner based on the results on the second screening specimen.

(2) The Department may require the medical home/practitioner to collect and submit additional specimens [and conduct additional diagnostic tests]for screening or confirmatory testing. The Department shall pay for the initial confirmatory testing on the newborn requested by the Department. The Department may recommend additional diagnostic testing to the medical home/practitioner. The cost of additional testing recommended by the Department is not covered by the Department.

(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 to have an appropriate specimen collected.

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

 

R398-1-10. Inadequate or Unsatisfactory Specimen, or QNS Specimen.

(1) If the Department finds an inadequate or unsatisfactory specimen, or QNS specimen, the Department shall inform the medical home/practitioner noted on the Newborn S[s]creening[ 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 Department.

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

 

R398-1-12. Access to Medical Records.

(1) The 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.

(2) The institution shall enter the Newborn Screening form number, also known as the Birth Record Number, into the Vital Records database and the Newborn Hearing Screening database.

 

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]Newborn Screening form, for the second specimen.

(2) The Department notifies the medical home/practitioner noted on the [demographic]Newborn Screening form [if the test results are abnormal, inconclusive or QNS]as provided in Section R398-1-9(1).

(3) The Department releases information to the medical home/practitioner noted on the [demographic]Newborn Screening 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]Internal Review Board 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]Internal Review Board.

 

R398-1-18 Statutory Penalties.

As required by Subsection 63-46a-3(5): Any person that violates any provision of this rule may be assessed a civil money penalty not to exceed the sum of $5,000 or be punished for violation of a class B misdemeanor for the first violation and for any subsequent similar violation within two years for violation of a class A misdemeanor as provided in Section 26-23-6.

 

KEY: health care, newborn screening

Date of Enactment or Last Substantive Amendment: [October 25, 2005]2008

Notice of Continuation: September 22, 2004[ (d), and (g)]

Authorizing, and Implemented or Interpreted Law: 26-1-6; 26-1-30(2)(a), (b), (c); 26-10-6 (d), and (g)