DEPARTMENT OF HEALTH

Amendment and Compilation of Chapter 11-143Hawaii Administrative Rules

Date

SUMMARY

1. §11-143-3 to 11-143-9 are amended.

2. Chapter 11-143 is compiled.

Amendment and Compilation of Chapter 11-143

Hawaii Administrative Rules

1. Chapter 11-143, Hawaii Administrative Rules,

entitled “Testing of Newborn Infants for Metabolic and

Other Diseases” is amended and compiled to read as

follows:

“HAWAII ADMINISTRATIVE RULES

TITLE 11

DEPARTMENT OF HEALTH

CHAPTER 143

TESTING OF NEWBORN INFANTS FORMETABOLIC AND OTHER DISEASES

Purpose

ApplicabilityDefinitionsDiseases required to be screenedFees and special fund

Hospital, birth attendant, andphysician responsibilities

§11-143-6 Specimen collection

§11-143-7 Parental notification and refusal§11-143-8 Home and non-institutional births

§11-143-9

§11-143-10

§11-143-11§11-143-12 Confidentiality

§11-143-13 Retention of records and related data

§11-143-14 to 11-143-99 (Reserved)§11-143-100 Severability

Historical note: This chapter is based substantially

on chapter 11-142. [Eff 09/18/81; R 1/24/87]

§11-143-1

§11-143-2§11-143-3

§11-143-4§11-143-4.5

§11-143-5

Laboratory responsibilitiesRepealedPenalty

143-1

§11-143-1 Purpose. The purpose of this chapteris to establish requirements to assure the testing forand detection of specified metabolic and otherdiseases in all infants born in the State in order topermit the institution of effective treatment foraffected infants. [Eff 1/24/87; am and comp 6/19/97;comp 11/20/03; comp 1/22/09; comp(Auth: HRS §321-291) (Imp: HRS §321-291)

§11-143-2 Applicability. This chapter appliesto all infants born in the State of Hawaii, to allphysicians caring for newborn infants, to all personsassisting the birth of a child not attended by aphysician, to all licensed laboratories and perinatalhealth care facilities in the State, and to thedesignated laboratory performing newborn screeningtests. [Eff 1/24/87; am and comp 6/19/97; comp11/20/03; comp 1/22/09; comp I (Auth:HRS §321-291) (Imp: HRS §321-291)

§11-143-3 Definitions. As used in this chapter:“Acceptable specimen” means a specimen on which an

accurate laboratory analysis can be performed for thedisease for which it was submitted.

“Amino acid disorders” means a group of hereditarydisorders caused by enzymatic defects, which result ina toxic accumulation of certain amino acids in theblood.

“Biotinidase deficiency” means a recessivelyinherited disease which affects the regeneration ofthe vitamin-cofactor biotin and impairs the metabolismof mitochondrial carboxylases.

“Birth attendant” means any person licensed orcertified by the State to provide maternity care andto deliver pregnant women, or any person assisting thebirth of an infant not attended by a licensed orcertified practitioner. Transport personnel areexcluded.

143-2

“Confirmatory specimen” means a specimen collectedfor the purpose of performing a confirmatory test.

“Confirmatory test” means a test performed on aspecimen to determine the validity of a previouspositive test.

“Congenital adrenal hyperplasia” means a group ofhereditary diseases caused by inborn error of cortisolproduction.

“Congenital hypothyroidism” means a disease of thethyroid gland which results in deficiency of thyroidhormone in the neonate.

“Cystic fibrosis” means a recessively inheriteddisease which causes thick, sticky mucus and fluids tobuild up in certain organs of the body, especially thelungs and pancreas.

“Department” means the department of health, Stateof Hawaii.

“Designated laboratory” means a laboratoryselected by the department to perform newbornscreening tests.

“Director” means the director of the statedepartment of health.

“Fatty acid oxidation disorders” means a group ofhereditary disorders caused by defects in enzymeswhich are involved in the breakdown of dietary andstored fats to energy.

“Galactosemia” means a disease, usually due to asingle enzyme deficiency of genetic origin, whichresults in an abnormal increase in the concentrationof galactose in the blood.

“Hemoglobinopathies” means conditions in which amutation in the hemoglobin gene, or in genes involvedin hemoglobin synthesis, produces variations in thehemoglobin structure, function, or quantity.

“Hospital” means any health facility licensed bythe State and approved to provide perinatal andpediatric services.

“Initial specimen” means the first specimencollected for newborn screening.

“Kit” means materials provided by the designatedlaboratory for the purposes of newborn screening

143-3

specimen collection and submission of specimens fornewborn screening laboratory tests.

“Maple syrup urine disease” means a recessivelyinherited disease which is characterized by aninability to metabolize the branched chain aminoacids, leucine, isoleucine, and valine.

“Negative” means a laboratory result on anacceptable specimen which is designated as havinginsufficient risk for disease to justify follow-upaction.

“Newborn screening specimen” means a fluid ortissue collected from the newborn to be submitted fornewborn screening tests.

“Newborn screening test” means a laboratoryprocedure performed on newborns to detect those atsufficiently increased risk for the diseases specifiedin section 11-143-4 to justify follow-up action.

“Organic acid disorders” means a group ofhereditary disorders caused by enzymatic defects whichresult in a toxic accumulation of certain organicacids in the blood.

“Phenotype” means an observable or measurableexpression of a gene or genes.

“Phenylketonuria” means an inborn error of aminoacid metabolism, resulting in an inability to convertphenylalanine to tyrosine.

“Positive” means a laboratory result on anacceptable specimen which is designated as having highrisk for disease to justify follow-up action.

“Repeat specimen” means a specimen collectedbecause the previous specimen was unacceptable orprevious test results were too early, or otherwiseunreliable. The repeat specimen is a redrawnspecimen.

“Repeat test” means a test ordered to be performedon a repeat specimen.

“Satisfactorily tested” means that the infant hadnewborn screening tests on an acceptable specimen orspecimens with either negative or position results,and the infant with positive results receivedappropriate follow-up with repeat or confirmatory

143-4

tests to establish or disprove the presence of thedisease.

“Severe combined immunodeficiency” means a groupof hereditary disorders caused by immune systemdefects which result in reduced or absent T and Blymphocytes leading to a lethal susceptibility toinfections.

“Unacceptable specimen” means any specimen whichhas been improperly collected, handled, or transportedto the laboratory such that the specimen cannot betested to yield acceptable results for the test ortests for which it was submitted.

“Urea cycle disorders” means a group of hereditarydisorders, caused by enzymatic defects which result ina toxic accumulation of ammonia in the blood.

“Working day” means an official day of work foradministrative programs of the department. [Eff1/24/87; am and comp 6/19/97; am and comp 11/20/03; amand comp 1/22/09; am and comp I (Auth:HRS §321-291) (Imp: HRS §321-291)

§11-143-4 Diseases required to be screened. Allinfants born in the State shall be satisfactorilytested for [phcnylkctonuria, congcnitalhypothyroidiom, congcnital adrcnal hypcrplacia, cyoticfibrooic, galactoacm±a, biotinidacc dcficicncy,hcmoglobinopath±cc, maplc oyrup urinc diocaoc, aminoacid dicordcrz, fatty acid oxidation dioorrnorganic acid dioordcro, and urca cyclc dioordcro]amino acid disorders, biotinidase deficiency,congenital adrenal hyperplasia, congenitalhypothyroidism, cystic fibrosis, fatty acid oxidationdisorders, galactosemia, hemoglobinopathies, maplesyrup urine disease, organic acid disorders,phenylketonuria, severe combined immunodeficiency, andurea cycle disorders as described in this chapter.[Eff 1/24/87; am and comp 6/19/97; am and comp11/20/03; am and comp 1/22/09; am andcomp I (Auth: HRS §321-291) (Imp: HRS§321-291)

143-5

§11-143-4.5 Fees and special fund. (a) Thedepartment shall collect a fee of [$4&] $99 for eachinitial newborn screening kit. The department shalldeposit the revenues into the newborn metabolicscreening special fund.

(b) Kits requested for testing shall be prepaidby the hospital, laboratory, or birth attendant in theamount specified by the department.

Cc) No infant born in Hawaii shall be deniednewborn screening testing because of inability of theinfant’s parent or guardian to pay the fee for newbornscreening testing. [Eff and comp 6/19/97; am and comp11/20/03; am and comp 1/22/09; am andcomp I (Auth: HRS §321-291) (Imp: HRS§321-291)

§11-143-5 Hospital, birth attendant, andphysician responsibilities. Ca) The newborn’sattending physician or birth attendant and thehospital administrator shall be jointly responsiblefor assuring that each infant born or transferred totheir care is satisfactorily tested as specified insection 11-143-4.

(b) Each hospital shall have written policies andprocedures concerning the required testing of newbornsfor designated metabolic and other diseases.

Cc) All newborns shall have a newborn screeningspecimen drawn before discharge from the hospital, orby three days of age, whichever comes first, and sentto the designated laboratory, except as provided forin subsection Ce).

(d) The newborn shall not be discharged until themedical record is checked to assure that the newbornscreening specimen has been collected.

Ce) For newborns transferred from one hospital toanother, the originating hospital shall assure thatthe newborn screening specimen is drawn. If thenewborn is too premature or too sick to have a

143-6

specimen drawn prior to transfer and a specimen is notobtained, the originating hospital shall beresponsible for clearly documenting this, notifyingthe hospital to which the newborn is being transferredthat a specimen has not been obtained, and reportingto the department as described in subsection (g).

Ct) The hospital shall keep record summaries ofinfants born or transferred by month of birth, as towhether the newborn screening tests were done, thetests results, and actions taken based on test resultsor missing results. These summaries shall be compiledmonthly and sent to the department not later thanthirty days after the end of the month.

(g) Not later than forty-eight hours aftertransfer, discharge, or death, the hospital shallreport to the department, on a form provided by thedepartment [-r] : [-he]

(1) The name of the newborn [and];(2) The parents’ or guardians’ names, address,

and phone number[--]; and(3) The physician’s name;

for those newborns not tested prior to death,transfer, or discharge[,or doath] from the hospital.

(h) Each hospital shall have available fordistribution to parents and guardians copies of theparent information brochure provided by the designatedlaboratory.

(i) Each hospital, physician, and birth attendantshall ensure compliance with section 11-143-6.

(j) Each physician shall follow the AmericanAcademy of Pediatrics newborn screeningrecommendations for repeat screening for infants whoseinitial specimens are obtained before twenty-fourhours of age.

(k) The physician caring for the newborn who hasa positive newborn screening test shall orderconfirmatory tests. The physician may requestassistance from the department if the physician hasdifficulty contacting the family regarding thepositive newborn screening test result.

143-7

(1) Hospital charges for the newborn screeningtests shall be justifiable. [Eff 1/24/87; am and comp6/19/97; am and comp 11/20/03; am and comp 1/22/09;am and comp I (Auth: HRS §321-291)(Imp: HRS §321-291)

§11-143-6 Specimen collection. (a) Allpersonnel responsible for collecting newborn screeningspecimens shall have read and become familiar with thedepartment’s Newborn Screening Practitioner’s Manualor have participated in a training program, or both.

(b) Personnel collecting newborn screeningspecimens shall record the procedure and the fact thatthe newborn screening specimen has been collected inthe infant’s medical record.

(c) Specimen collection forms purchased from thedepartment shall be used for all newborn screeningspecimens.

(d) All information requested on the specimencollection form shall be provided by personnelresponsible for newborn screening specimen collection.

(e) For initial newborn screening tests, bloodshall be taken from the newborn’s heel and placed onthe approved collection form.

(f) Specimen collection procedures shall followthe Clinical and Laboratory Standards Institute,“Blood Collection on Filter Paper for NewbornScreening Programs; Approved Standard - [Fifth] SixthEdition.”

(g) If a newborn is to be discharged prior totwenty-four hours of age, a newborn screening specimenshall be collected as close to discharge as possible,regardless of age and feeding history. If the initialnewborn screening specimen is obtained before twentyfour hours of age, then a repeat specimen shall beobtained before fourteen days of age. Any newAmerican Academy of Pediatrics newborn screeningrecommendations for specimens obtained before twentyfour hours of age shall supersede theserecommendations.

143-8

(h) Newborns who require a blood transfusion ordialysis shall have a specimen collected prior totransfusion or dialysis. If a newborn screeningspecimen cannot be obtained before transfusion ordialysis, the physician shall ensure that a repeatspecimen is obtained at the appropriate time when thespecimen will reflect the infant’s own metabolicprocesses and phenotype.

Ci) All newborn screening specimens shall be sentby the appropriate person or entity in section 11-143-2 to the designated laboratory within twenty-fourhours of collection, except when mailing service isnot available. When mailing service is not availableon weekends and holidays, newborn screening specimensshall be sent to the designated laboratory on thefirst available mail pick-up day. [Eff 1/24/87; amand comp 6/19/97; am and comp 11/20/03; am and comp1/22/19; am and comp I (Auth: HRS§321-291) (Imp: 1-IRS §321-291)

§11-143-7 Parental notification and refusal. (a)The department of health shall make [Copicz] copies ofthe parent information brochure [zhall bc] availableto parents, guardians, other persons having custody orcontrol of the child, hospitals, physicians, birthattendants, birth registrars, nurses, and childbirtheducators.

(b) The parent, guardian, or other person havingcustody or control of the child shall be notified bythe department of the need for repeat or confirmatorytesting when the department is not able to obtainfollow-up information from the physician.

Cc) The parent, guardian, or other person havingcustody or control of the child may refuse the newbornscreening tests for their infant on the grounds thatthe newborn screening tests conflict with thereligious tenets and beliefs of the parent, guardian,or other person having custody or control of thechild. The medical implications of that refusal shallbe included on a special refusal form provided by the

143-9

department. The refusal form shall be signed by theparent, guardian, or other person having custody orcontrol of the child.

(d) A copy of the refusal form shall be retainedin the newborn’s medical record and a copy shall besent to the department. [Eff 1/24/87; am and comp6/19/97, am and comp 11/20/03; comp 1/22/09; am andcomp I (Auth: HRS §321-291) (Imp: HRS§321-291)

§11-143-8 Home and non-institutional births. (a)For births occurring outside of a hospital, the birthattendant shall be responsible for assuring that anacceptable specimen is properly collected for testingas [stipulated in] provided in section 11-143-6.

(b) For unattended, home, and non-institutionalbirths, the department’s birth registrar shall givethe person registering the birth of the child a copyof the parent information brochure on newbornscreening for metabolic and other diseases [andsend a copy of the birth certificate to the newbornscreening program] . [Eff 1/24/87; am and comp 6/19/97;am and comp 11/20/03; comp 1/22/09; am andcomp I (Auth: HRS §321-291) (Imp: HRS§321-291)

§11-143-9 Laboratory responsibilities. (a) Alaboratory wishing to offer the newborn screeningtests shall submit a proposal for provision of newbornscreening laboratory services, as specified by thedepartment.

(b) The designated laboratory shall:

(1) Provide laboratory analysis for the initialnewborn screening tests, for the repeatnewborn screening tests, and confirmatorytests on positive newborn screening results;

(2) Maintain a system of linking all testresults with the appropriate newborn;

143-10

(3) Provide specimen collection forms and parentinformation brochures to hospitals,laboratories, birth attendants, and thedepartment;

(4) Provide practitioner’s manuals to thedepartment;

(5) Implement and follow procedures for keepingall specimens received under adequatestorage conditions to allow for retestingfor at least one year;

(6) Implement and follow record keepingprocedures which include:(A) Procedures for the logging of received

specimens;(3) Procedures for tracking repeat testing

for previous unacceptable specimens andpositive newborn screening tests;

(C) Procedures for the reporting of alltest results to the newborn’sphysician, hospital, and thedepartment;

(D) Procedures for the reporting ofpositive newborn screening tests andunacceptable specimens to the newborn’sphysician and the department as soon aspossible but not later than sevenworking days after receipt of thespecimen;

(7) Implement and follow a schedule of reportingto the department:(A) Daily reports that shall include as a

minimum:(i) Positive newborn screening test

results case report, includingnewborn’s name, parents’ name,address, phone number, and nameof primary care provider;

(ii) Unacceptable specimen casereport, including newborn’sname, parents’ name, address,phone number, and name ofprimary care provider;

143 -11

(B) Monthly and annual reports that shallinclude as a minimum:(i) Collection status: Number of

acceptable and unacceptablespecimens by source;

(ii) Unduplicated number of infantstested by source;

(iii) Number of positive and negativenewborn screening tests bydisorder;

(iv) Number of repeat tests forprevious specimens collected fornewborns less than twenty-fourhours of age;

(8) Maintain an internal quality assuranceprogram;

(9) Participate in an external proficiencytesting and quality assurance programapproved by the department;

(10) Implement and follow procedures for specimenhandling and laboratory testing duringemergencies or other situations when thelaboratory is shut down for more than threeworking days;

(11) Provide an ongoing educational program tomaintain and upgrade knowledge and skills oflaboratory staff; and

(12) Arrange for designated specialists inmetabolic, hemoglobin, pulmonary, [and]endocrine, and immunodeficiency disorders tobe available for consultation regardinginterpretation of test results, andguidelines for care, treatment, and follow-up of infants with positive newbornscreening test results.

(c) Only the laboratory that has been selectedin writing by the department as the designatedlaboratory shall be allowed to offer newborn screeningtesting. [Eff 1/24/87; am and comp 6/19/97; am andcomp 11/20/03; am and comp 1/22/09; am andcomp ] (Auth: HRS §321-291) (Imp: HRS§321-291)

143 -12

§11-143-10 Repealed. ER 6/5/971

§11-143-11 Penalty. The penalty for

noncompliance with this chapter shall include an

administrative fine as specified in section 321-20,

HRS. [Eff 1/24/87; am and comp 6/19/97; comp11/20/03; am and comp 1/22/09; comp

(Auth: HRS §32l-20, 321-291) (Imp: HRS §32l-20,

321-291)

§11-143-12 Confidentiality. All information,

including records, correspondence, and documents,

specific to individual newborns, shall be confidential

and shall be used solely for the purposes of medical

intervention, counseling, scientific research, or

reporting. The infant’s name shall be kept

confidential. {Eff 1/24/87; am and comp 6/19/97; comp11/20/03; comp 1/22/09; comp I (Auth:HRS §321-291) (Imp: HRS §321-291)

§11-143-13 Retention of records and relateddata. All information, including records,

correspondence, documents, and related data, specific

to individual newborns, shall be retained as specified

in section 622-58, HRS. [Eff and comp 6/19/97; am and

comp 11/20/03; am and comp 1/22/09;

comp I (Auth: HRS §321-291, HRS §622-58) (Imp: HRS §321-291, HRS §622-58)

§S11-143-14 to 11-143-99 (Reserved)

143-13

§11-143-100 Severability. If any provision ofthis chapter, or the application thereof to any personor circumstance is held invalid, the invalidity doesnot affect other provisions or applications of thischapter that can be given effect without the invalidprovision or application, and to this and theprovisions of this chapter are severable.” [Eff1/24/97; comp 6/19/97; comp 11/20/03; comp 1/22/09;comp I (Auth: HRS §321-291)(Imp: HRS §321-291)

2. Material, except source notes and othernotes, to be repealed is bracketed. New material isunderscored.

3. Additions to update source notes and othernotes to reflect these amendments are not underscored.

4. The amendments to and compilation ofchapter 11-143, Hawaii Administrative Rules, shalltake effect ten days after filing with the Office ofthe Lieutenant Governor.

I certify that the foregoing are copies of therules, drafted in the Ramseyer format pursuant to therequirements of section 91-4.1, Hawaii RevisedStatutes, which were adopted on (date on summary page)and filed with the Office of the Lieutenant Governor.

Virginia PresslerDirector of Health

APPROVED AS TO FORM:

Deputy Attorney General

143-14