Chapter 3701-55 Newborn Screening for Genetic, Endocrine, or Metabolic Disorders

3701-55-01 Definitions.

(A) "Bureau of public health laboratory" means the bureau which is responsible for operating the Ohio department of health laboratory established by section 3701.22 of the Revised Code.

(B) "Certified nurse midwife" means a registered nurse who holds a valid certificate of authority issued under Chapter 4723. of the Revised Code that authorizes the practice of nursing as a certified nurse midwife in accordance with section 4723.43 of the Revised Code and rules adopted by the board of nursing.

(C) "Certified nurse practitioner" means a registered nurse who holds a valid certificate of authority issued under Chapter 4723. of the Revised Code that authorizes the practice of nursing as a certified nurse practitioner in accordance with section 4723.43 of the Revised Code and rules adopted by the board of nursing.

(D) "Clinical nurse specialist" means a registered nurse who holds a valid certificate of authority issued under Chapter 4723. of the Revised Code that authorizes the practice of nursing as a clinical nurse specialist in accordance with section 4723.43 of the Revised Code and rules adopted by the board of nursing.

(E) "Director" means the director of health or his or her designee.

(F) "Freestanding birthing center" means a facility other than a hospital perinatal unit providing obstetrical delivery services registered under section 3702.30 of the Revised Code.

(G) "Health commissioner" means the health commissioner of a general, city or county health district or the individual with the responsibilities of a health commissioner in a city or county health district.

(H) "Hospital" means an institution classified and registered as a hospital under section 3701.07 of the Revised Code that has a maternity unit or newborn nursery.

(I) "Physician" means an individual authorized under Chapter 4731. of the Revised Code to practice medicine and surgery or osteopathic medicine and surgery.

(J) "Bureau for children with medical handicaps" means a health care program in the Ohio department of health established by section 3701.023 of the Revised Code.

(K) "Initial specimen" means the first satisfactory newborn screening blood sample collected on an infant.

(L) "Repeat specimen" means a newborn screening blood sample collected subsequent to a satisfactory initial specimen.

(M) "Unsatisfactory specimen" means a newborn screening blood sample for which testing cannot be performed or interpreted due to errors occurring during the collection, shipping, or testing phase.

Effective: 02/13/2014
R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 2/15/1999, 3/17/03 (Emer.), 6/15/03, 2/13/09

3701-55-02 Required screening; facility requirements.

(A) All newborn children shall be screened in accordance with procedures set forth in this chapter for the presence of the following genetic, endocrine, or metabolic disorders:

(1) Argininemia;

(2) Argininosuccinic acidemia;

(3) Biotinidase deficiency;

(4) Carnitine/acylcarnitine translocase deficiency;

(5) Carnitine palmitoyl transferase deficiency type II;

(6) Carnitine uptake defect;

(7) Citrullinemia;

(8) Congenital adrenal hyperplasia;

(9) Congenital hypothyroidism;

(10) Cystic fibrosis;

(11) Galactosemia;

(12) Glutaric acidemia type I;

(13) Glutaric acidemia type II;

(14) Homocystinuria (cystathionine-beta-synthase deficiency);

(15) Hypermethioninemia;

(16) Isobutyryl-CoA dehydrogenase deficiency;

(17) Isovaleric acidemia;

(18) Long chain hydroxyacyl-CoA dehydrogenase deficiency;

(19) Maple syrup urine disease;

(20) Medium chainacyl-CoA dehydrogenase deficiency;

(21) Methylmalonic acidemia;

(22) Multiple CoA carboxylase deficiency;

(23) Phenylketonuria;

(24) Propionic acidemia;

(25) Short chain acyl-CoA dehydrogenase deficiency;

(26) Trifunctional protein deficiency;

(27) Tyrosinemia type-I;

(28) Tyrosinemia type-II;

(29) Tyrosinemia type-III;

(30) Very long chain acyl-CoA dehydrogenase deficiency;

(31) 2-methylbutyryl-CoA dehyrogenase deficiency;

(32) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency;

(33) 3-ketothiolase deficiency;

(34) 3-methylcrotonyl-CoA carboxylase deficiency;

(35) Sickle cell and other hemoglobinopathies ; and

(36) Severe combined immune deficiency.

(B) All hospitals and freestanding birthing centers that are required by this chapter to cause specimens to be collected for newborn screening for genetic, endocrine, or metabolic disorders shall:

(1) Designate a newborn screening coordinator and physician responsible for the coordination of the facility's newborn screening;

(2) Notify the chief of the Ohio department of health bureau of public laboratories of the name of the individual designated as the newborn screening coordinator on a yearly basis and whenever the designated individual changes; and

(3) Develop a written protocol for tracking newborn screening. The protocol must include a requirement that the name of the physician attending the child after birth or a designee be placed on the specimen slip sent with the initial specimen to the Ohio department of health public health laboratory.

R.C. 119.032 review dates: 05/20/2014 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 3/17/2003 (Emer.), 6/15/03, 8/16/04, 8/30/06, 7/1/09, 7/29/13

3701-55-03 Public health laboratory responsibilities.

The bureau of public health laboratory shall provide screening for the presence of genetic, endocrine, or metabolic disorders in newborn children. In providing this screening, the bureau shall do all of the following:

(A) Provide instructions for collecting, handling and transporting specimens with specimen collection kits;

(B) Complete each screening within seven business days after receiving the properly collected and submitted specimen;

(C) Transmit the results of the screening performed to the appropriate person, as specified in rule 3701-55-07 of the Administrative Code, in the manner prescribed by the director;

(D) Keep all newborn screening specimens and the demographic forms associated with each specimen for not less than two years from the date of the bureau's initial receipt of each specimen;

(E) Keep electronic raw test data and any electronic images of reports and/or letters created for each specimen for not less than two years from the date of the bureau's initial receipt of each specimen;

(F) Maintain electronically the screening results, demographic information, and case management information for each properly collected and submitted specimen received by the bureau for not less than twenty one years; and

(G) Provide reports regarding unsatisfactory specimens, disease specific reports and other reports to programs within the department of health, or to entities under grant or contract with the department of health, as prescribed and deemed necessary by the director to carry out the functions and responsibilities of the director and the department of health.

Effective: 02/13/2014
R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 2/15/1999, 3/17/03 (Emer.), 6/15/03, 2/13/2009

3701-55-04 Notification prior to screening.

(A) Prior to collecting the blood specimen for screening, the person designated in the applicable provision of this rule shall give each newborn child's parent, legal guardian, or legal custodian, notice of the screening to be conducted by providing printed information describing the newborn genetic, endocrine and metabolic screening program.

(1) When a birth occurs in a hospital, the hospital shall provide the information;

(2) When a birth occurs in a freestanding birthing center, the freestanding birthing center shall provide the information;

(3) When a birth occurs outside a hospital or freestanding birthing center, the attending physician, the certified nurse midwife, the certified nurse practitioner or the clinical nurse specialist shall provide the information;

(4) If there is no physician, certified nurse midwife, certified nurse practitioner or clinical nurse specialist in attendance at the time of birth, upon notification of the birth, the health commissioner of the health district in which the birth occurred shall provide the information.

(B) The director shall provide the printed information required by this rule to hospitals, freestanding birthing centers, health commissioners, physicians, certified nurse midwives, certified nurse practitioners and clinical nurse specialists.

(C) The director shall conduct educational programs for hospital and freestanding birthing center newborn screening coordinators, physicians, certified nurse midwives, certified nurse practitioners and clinical nurse specialists, nurses, laboratory staff and others involved in the collection and follow-up of newborn screening specimens.

R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 3/17/2003 (Emer.), 6/15/03, 8/16/04

3701-55-05 Initial specimen collection.

(A) The person responsible for causing the initial blood specimen to be collected for screening under this rule shall be as follows:

(1) For births which occur in a hospital or freestanding birthing center, the child's attending physician, the certified nurse midwife, the certified nurse practitioner or the clinical nurse specialist shall cause the initial blood specimen to be collected from each newborn child prior to discharge from the newborn nursery.

(a) For a newborn child who remains in a hospital or a freestanding birthing center for at least twenty-four hours following birth, the blood specimen shall be collected as soon as possible after twenty-four hours of age, but no later than when the child reaches five days of age;

(b) For a newborn child who is discharged to go home from a hospital or freestanding birthing center prior to twenty-four hours of age, the blood specimen shall be collected prior to discharge;

(c) For a newborn child who is transferred to another hospital prior to the collection of the blood specimen, the blood specimen shall be collected at the receiving hospital as soon as possible after twenty-four hours of age, but no later than when the child reaches five days of age.

(2) For births which occur outside a hospital or freestanding birthing center, the attending physician, the certified nurse midwife, the certified nurse practitioner or the clinical nurse specialist shall cause the blood specimen to be collected. The physician, certified nurse midwife, certified nurse practitioner, or clinical nurse specialist shall cause the the blood specimen to be collected as soon as possible after twenty-four hours of age, but no later than when the child reaches five days of age .

(3) For births which occur outside a hospital or freestanding birthing center when no physician, certified nurse midwife, certified nurse practitioner or clinical nurse specialist is in attendance, the health commissioner, shall cause a blood specimen to be collected within five business days after being notified by the local registrar of the birth of a child under this paragraph, but no sooner than when the child reaches twenty-four hours of age.

(B) An initial blood specimen shall be collected prior to a red blood cell transfusion when possible even if the newborn is less than twenty-four hours of age. A specimen collected from a child who has received a transfusion of red blood cells shall be so labeled.

(C) A specimen collected under this rule shall be sent to the bureau of public health laboratory for screening no later than two business days after it is collected.

(D) The person designated by this rule to collect the initial specimen shall cause a repeat specimen to be obtained within five business days after receiving notice from the bureau of public health laboratory that the first specimen is unsatisfactory. Unsatisfactory specimens include, but are not limited to, specimens that are received by the bureau more than fourteen days after they are collected.

(E) If the person responsible for collecting the repeat specimen is unable to locate the newborn child, he or she shall notify the health commissioner of the health district in which the mother, legal guardian, or legal custodian resides. The health commissioner shall make a reasonable effort to locate the child and cause a repeat specimen to be obtained. If the health commissioner is not able to locate the child within the thirty days, he or she may close the file.

Effective: 02/13/2014
R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 2/15/1999, 3/2/01, 3/17/03 (Emer.), 6/15/03, 2/13/09

3701-55-06 Required further screening if initial specimen collected at less than twenty-four hours.

(A) If the initial specimen is collected from a child at less than twenty-four hours of age, the child's attending physician, certified nurse midwife, certified nurse practitioner or clinical nurse specialist and the hospital or freestanding birthing center shall make a reasonable effort to cause a repeat blood specimen to be collected from the child in accordance with the provisions of paragraph (B) of this rule.

(B) The repeat blood specimen shall be collected after the child reaches twenty-four hours of age but no later than when the child reaches ten days of age.

(C) A specimen collected under this rule shall be sent to the bureau of public health laboratory for screening no later than two business days after it is collected.

Effective: 02/13/2014
R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 3/17/2003 (Emer.), 6/15/03

3701-55-07 Required further screening or diagnostic testing if specimen abnormal.

This rule prescribes the procedures that apply if, upon screening of a specimen, the bureau of public health laboratory determines that the result indicates potential risk for one or more of the screened disorders.

(A) The director shall communicate the results to the following person, as applicable:

(1) If a child was born in a hospital or freestanding birthing center, the director shall communicate the results to the child's attending physician, child's primary medical provider, pediatrician, certified nurse midwife, certified nurse practitioner or clinical nurse specialist. If the director is unable to contact the attending physician, child's primary medical provider, pediatrician, certified nurse midwife, certified nurse practitioner or clinical nurse specialist, the director shall communicate the results to the newborn screening coordinator at the facility where the child was born.

(2) If the child was not born in a hospital or freestanding birthing center, the director shall communicate the results to the person designated in paragraph (A)(2) or (A)(3) of rule 3701-55-05 of the Administrative Code, as applicable.

(B) The person notified of the results by the director under paragraph (A) of this rule shall communicate the results to the child's parent, legal guardian, or legal custodian and shall obtain and submit a repeat blood specimen for screening or diagnostic testing in accordance with the following procedures:

(1) When the result indicates potential risk for a disorder listed in paragraphs (A)(1) to (A)( 36) of rule 3701-55-02 of the Administrative Code, a screening or diagnostic test shall be obtained in accordance with paragraph (B)(3) of this rule as soon as possible, but no later than ten days after notification by the director.

(2) When the results are abnormal for a hemoglobin disease or hemoglobin trait, a diagnostic test shall be obtained in accordance with paragraph (B)(3) of this rule before the child reaches two months of age.

(3) Diagnostic specimens obtained under paragraphs (B)(1) and (B)(2) of this rule shall be submitted for testing to a laboratory certified under the Clinical Laboratory Improvement Act, 42 USC 263a as amended January 24, 2004, that reports results with normal pediatric reference ranges. That laboratory shall promptly transmit the results of the diagnostic test to the person who submitted the specimen.

(C) If after ten business days, the person responsible for obtaining and submitting the repeat specimen and/or diagnostic tests under paragraph (B) of this rule is unable to obtain a specimen from a newborn child with an initial screen result of a potential risk despite making a reasonable effort, he or she shall notify the health commissioner of the health district in which the mother, legal guardian, or legal custodian resides.

The health commissioner shall make a reasonable effort to locate the child and cause a second specimen to be obtained. If the health commissioner is not able to locate that child within thirty days, he or she may close the file.

(D) The health commissioner shall submit a report to the director, upon case closure, listing the names and other identifiers of newborns the health commissioner was unable to locate.

Effective: 02/13/2014
R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 2/15/1999, 3/17/03 (Emer.), 6/15/03, 8/16/04, 2/13/09

3701-55-08 Procedure following repeat screening or diagnostic testing.

(A) When a repeat screen or diagnostic test is conducted under paragraph (B) of rule 3701-55-07 of the Administrative Code, the person who submitted the specimen shall do the following:

(1) Communicate the results to the child's parent, legal, guardian or legal custodian;

(2) Communicate the results to the director; and

(3) Refer the child for further diagnostic testing, follow-up and management in accordance with the following, as applicable:

(a) A child with abnormal results on the diagnostic test for one or more of the disorders listed in paragraphs (A)(1) to (A)(34) of rule 3701-55-02 of the Administrative Code shall be referred to an appropriate specialist physician who is approved under rule 3701-43-03 of the Administrative Code as a provider for the program for medically handicapped children and is board certified in pediatric endocrinology, medical genetics, or immunology/infectious diseases , or to a cystic fibrosis center approved for the program for medically handicapped children.

(b) A child with abnormal results on the screen for sickle cell disease, Sickle C disease, Sickle Beta Thalassemia, Alpha Thalassemia (major or intermedia), or Beta Thalassemia (major or H disease) shall be referred to a physician who is approved under rule 3701-43-03 of the Administrative Code as a provider for the program for medically handicapped children and is board certified in pediatric hematology.

(c) A child with abnormal results on diagnostic tests for sickle cell and other hemoglobinopathies shall be referred to a state funded Ohio regional sickle cell project for hemoglobin counseling and follow-up.

(B) The physician to whom a child is referred pursuant to paragraph (A) of this rule shall notify the director of results and disposition of the child within thirty days of the referral.

(C) The director may share newborn screening information obtained pursuant to this chapter and from other sources with programs within the department of health and with individuals or entities under grant or contract with the department of health to assist in locating a newborn child, the child's parent, legal guardian, or legal custodian and to otherwise carry out the functions and responsibilities of the director and the department of health.

Effective: 02/13/2014
R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 2/15/1999, 3/17/03, 6/15/03, 2/13/09

3701-55-09 Religious exception.

(A) The provisions of this chapter requiring screening of newborn children do not apply if the parents of the child object thereto on the grounds that such screening conflicts with their religious tenets and practices.

(B) Refusal to consent to the newborn screening must be documented on forms provided by the Ohio department of health or must meet the minimum warning requirements set forth on the Ohio department of health forms. A copy of the refusal form or other documentation of parental refusal shall be sent to the Ohio department of health.

Effective: 02/13/2014
R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 3/17/2003 (Emer.), 6/15/03

3701-55-10 Supplemental studies.

The director may conduct supplemental studies of the initial blood specimen collected pursuant to rule 3701-55-05 of the Administrative Code for the purpose of determining whether additional genetic, endocrine, or metabolic screening is necessary. The results of such supplemental studies will assist in determining whether additional screening can help detect other genetic, endocrine or metabolic disorders that cause disability if undiagnosed and untreated for which a medically accepted treatment is available. No additional blood samples or specimens shall be required to conduct a supplemental study or screening.

(A) Each supplemental screening shall be completed by the bureau of public health laboratory within seven business days after receiving the properly collected and submitted specimen.

(B) If upon supplemental screening of a specimen, the bureau of public health laboratory determines that a result indicates a potential risk for one or more of the supplemental screenings disorders, the director shall communicate the results to the following person, as applicable:

(1) If the child was born in a hospital or freestanding birthing center, to the child's attending physician, certified nurse midwife, certified nurse practitioner, or clinical nurse specialist. If the director is unable to contact the attending physician, certified nurse midwife, certified nurse practitioner, or clinical nurse specialist, the director shall communicate the results to the newborn screening coordinator at the facility where the child was born .

(2) If the child was not born in a hospital or freestanding birthing center, the director shall communicate the results to:

(a) The attending physician, certified nurse midwife, certified nurse practitioner or the clinical nurse specialist in attendance; or

(b) The health commissioner of the health district in which the mother, legal guardian, or legal custodian resides, if there was no attending physician, certified nurse midwife, certified nurse practitioner or clinical nurse specialist in attendance. The health commissioner shall make a reasonable effort to locate the child's mother, legal guardian or legal custodian of the child, and to notify the mother, legal guardian or legal custodian of the child of the results of the supplemental screening.

Effective: 02/13/2014
R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 8/30/2006

3701-55-20 Fees for genetic services, sickle cell fund.

In addition to the laboratory fee authorized by rule 3701-49-01.1 of the Administrative Code, the director of health shall charge and collect a fee of twenty-six dollars and thirty-one cents for performing genetic, endocrine, and metabolic disorder screenings required by section 3701.501 of the Revised Code and this chapter. The fee shall be disbursed as follows:

(A) Twenty dollars and twenty-six cents shall be deposited in the state treasury to the credit of the genetics services fund. Twelve dollars and twenty-four cents of each fee credited to the genetic services fund shall be used to defray the costs of programs authorized by section 3701.502 of the Revised Code. Four dollars and eighty-seven cents from each fee credited to the genetics services fund shall be used to defray the costs of phenylketonuria programs. Three dollars and fifteen cents from each fee credited to the genetics services fund shall be used to defray the cost of programs that provide genetic counseling and education to families of newborns with abnormal newborn screening results for cystic fibrosis.

(B) Six dollars and five cents shall be deposited into the state treasury to the credit of the sickle cell fund. Money credited to the sickle cell fund shall be used to defray costs of programs authorized under section 3701.131 of the Revised Code.

R.C. 119.032 review dates: 11/27/2013 and 11/15/2018
Promulgated Under: 119.03
Statutory Authority: 3701.501
Rule Amplifies: 3701.501
Prior Effective Dates: 11/15/2004, 8/30/06, 02/13/09