in-20260930-IR-410260345FNA: NEWBORN SCREENING

TITLE 410 INDIANA DEPARTMENT OF HEALTH Notice of First Public Comment Period LSA Document #26-345 NEWBORN SCREENING PURPOSE OF NOTICE The Indiana Department of Health (IDOH) is soliciting public comment on amending rules at 410 IAC 3-3 concerning newborn screening. ADDITIONAL DOCUMENTS Regulatory Analysis: 20260930-IR-410260345RAA Notice of Public Hearing: 20260930-IR-410260345PHA CITATIONS AFFECTED: 410 IAC 3-3 AUTHORITY: IC 16-19-3-4; IC 16-41-17-9; IC 16-41-17-10 OVERVIEW Basic Purpose and Background Indiana law requires newborn screening for certain serious disorders. Early identification and intervention can prevent disability, morbidity, premature death, and other adverse health outcomes. The newborn screening rules were last updated in 2021 and do not fully reflect current communication methods, technology, terminology, or screening practices. The proposed amendments: (1) update terminology and procedures throughout 410 IAC 3-3; (2) clarify and revise rescreening protocols for newborns who are preterm, have low birth weight, are sick, are transfused, or receive care in a special care nursery or neonatal intensive care unit; and (3) add Gaucher disease, mucopolysaccharidosis type II (MPS-II), guanidinoacetate methyltransferase (GAMT) deficiency, and Duchenne muscular dystrophy (DMD) to Indiana's newborn screening panel. The amendments also increase the newborn screening fee from $120 to $135 for each initial and repeat specimen received by the newborn screening laboratory. The amendments are intended to reduce confusion, align Indiana's rules with current practices and national recommendations, ensure appropriate and timely screening, support follow-up and treatment, and sustain the newborn screening program. Affected parties include newborns and their families, hospitals, licensed birthing centers, midwives and physicians providing home-birth services, the state-contracted newborn screening laboratory, health insurers, and other payors responsible for screening fees. The implementation costs of the proposed rule are expected to exceed the threshold set in IC 4-22-2-22.7(c)(6). For purposes of IC 4-22-2-28.1, small businesses affected by this rulemaking may contact the Small Business Regulatory Coordinator: For purposes of IC 4-22-2-28.1, the Small Business Ombudsman designated by IC 5-28-17-6 is: Resources available to regulated entities through the small business ombudsman include the ombudsman's duties stated in IC 5-28-17-6, specifically IC 5-28-17-6(9), investigating and attempting to resolve any matter regarding compliance by a small business with a law, rule, or policy administered by a state agency, either as a party to a proceeding or as a mediator. REQUEST FOR PUBLIC COMMENT IDOH is soliciting public comment on the proposed rule. Comments may be submitted in one of the following ways: COMMENT PERIOD DEADLINE All comments must be postmarked or time-stamped not later than October 30, 2026. The rule, Regulatory Analysis, appendices referenced in the Regulatory Analysis, and materials incorporated by reference (if applicable) are on file at the Indiana Department of Health, 2 North Meridian Street, Indianapolis, Indiana and are available for public inspection. Copies of the rule, Regulatory Analysis, and appendices referenced in the Regulatory Analysis are available at the Indiana Department of Health office. If IDOH does not receive substantive comments during the public comment period or public hearing, the rule may be adopted with text that is the same as or does not substantially differ from the text of the proposed rule published in this notice. PROPOSED RULE Sec. 1. The following definitions apply throughout this rule: Sec. 2. (a) The department shall provide public educational materials, including descriptions of the disorders and of the screening program, to hospitals, birthing centers, physicians, midwives, and other health care providers for distribution to patients. Physicians and midwives engaged in providing prenatal or perinatal care, or both, shall provide pregnant women, prior to the estimated date of delivery, with this information. Hospitals and birthing centers shall provide each pregnant woman admitted for delivery with a copy of this information prior to collection of the blood specimen. If a woman is unable to read the material, it shall be translated or read to her in a language she understands. (b) Any parent who objects to the testing screening for reasons pertaining to religious beliefs only shall so indicate by signing a statement of informed refusal. The objection shall become part of the medical record, and the newborn or infant shall be exempted from the testing. screening. Sec. 2.5. (a) The state-contracted newborn screening laboratory will furnish filter paper kits, without additional cost, annually to hospitals, midwives, birthing centers, and other collections collection sources. Manufacturer and lot number for the filter paper must be included on the filter paper section of the kit in accordance with the Clinical Laboratory Standards Institute (CLSI)-approved national standard. Sequential system control numbers for each collection kit must be printed on each information section of the collection card and on the filter paper section, if that section is detachable. (b) The state-contracted newborn screening laboratory must provide filter paper kits, without additional cost, to local health departments MCH/CSHCS clinics, or other outside organizations/individuals organizations or individuals, or both, as designated by the department for the collection of newborn screening specimens. (c) The department's newborn screening program will ensure that all Indiana residents who are diagnosed with one (1) of the metabolic conditions included in the newborn screening panel have access to the appropriate metabolic formula necessary for treatment as follows: (d) All other costs related to purchasing equipment or supplies that are required to perform mandated newborn screening must be covered by the hospital, birthing center, midwifery, or physician practice. Sec. 3. (a) Except as provided for in section 2(b) of this rule, all newborns and infants born in the state of Indiana shall be screened for the following: (b) The responsible physician, midwife, birthing center, or hospital shall collect a specimen of the newborn newborn's or infant's blood on a filter paper kit approved by the department. The specimen shall consist of capillary blood obtained by heel puncture and applied directly to the special filter paper. All circles shall must be saturated with blood from one (1) side of the filter paper only. All information requested on the form attached to the special filter paper shall must be provided. The specimen shall must be air dried for three (3) hours and then inserted into the protective envelope with complete data. If multiple specimens are forwarded in one (1) envelope, care must be taken to avoid cross-contamination. Completed specimens shall must be forwarded sent to a designated laboratory within twenty-four (24) hours after collection. If courier service is not available within twenty-four (24) hours, specimens must be sent with the first available courier. (c) The newborn newborn's or infant's blood for these tests shall must be collected not earlier than twenty-four (24) hours after birth and not later than forty-eight (48) hours after birth, except as stated in subsections (d), (f), and (g), and (h). (d) When a live birth occurs in a hospital or birthing center, the responsible physician or midwife shall have a specimen of the newborn newborn's or infant's blood taken prior to the newborn newborn's or infant's discharge from the hospital. If the newborn is discharged from the hospital before twenty-four (24) hours after birth, a blood specimen shall must be collected regardless, but collection shall must be repeated after forty-eight (48) hours and not later than one hundred twenty (120) hours after birth. The hospital or birthing center shall provide a written notice to the parents, at or before discharge, of the requirements and arrange for the newborn to be tested screened again prior to one hundred twenty (120) hours after birth. In the event an infant is transferred to another hospital, the birth facility must notify the receiving hospital about any additional screenings required. If the transfer is to occur before twenty-four (24) hours after birth, a blood specimen must be collected regardless, but the receiving facility will need to collect a repeat specimen between twenty-four (24) and forty-eight (48) hours if it does not interfere with life-saving efforts. (e) When a live birth occurs in a facility other than a licensed hospital or birthing center, it shall be is the responsibility of the physician or midwife in attendance at the birth to assure that the newborn or infant is referred to an appropriate facility, such as a physician office, hospital, birthing center, or local health department, and to make the arrangements to obtain and submit a satisfactory blood specimen in accordance with this section. In the absence of an attending physician or midwife, the registrar of births shall refer the newborn or infant immediately to the parent's physician or to the local health department for submission of a specimen in accordance with this section and notify the MCH/NBS MCH/PHG immediately. (f) For preterm or low birth weight (less than two thousand (2,000) grams) newborns or infants, the initial specimen shall must be taken not earlier than twenty-four (24) hours after birth and not later than forty-eight (48) hours after birth. If a preterm or low birth weight newborn or infant remains admitted to the hospital on the fourteenth day after birth, a repeat second specimen collection shall must be taken not earlier than fourteen (14) days and not later than thirty (30) days after birth or the day of discharge, whichever comes first. collected on that day. If a preterm or low birth weight infant remains admitted to the hospital on the thirtieth day after birth, a third specimen must be collected on that day. Prematurity, birth weight, and transfusion status shall must be noted on the request form newborn screening card in the space provided. No additional specimens shall be collected unless requested by the department or the newborn screening laboratory. (g) If the newborn or infant is to receive total exchange red blood cell transfusion, then the specimen for the newborn screening test screen is to be obtained prior to transfusion and between twenty-four (24) and forty-eight (48) hours after birth, which represents the newborn newborn's or infant's own blood. If the pre-transfusion collection occurred before occurs prior to transfusion and between twenty-four (24) and forty-eight (48) hours after birth, the collection is valid and the newborn or infant shall receive only that collection. If a transfusion must occur prior to twenty-four (24) hours after birth, a pre-transfusion collection must occur, and a repeat collection shall must be taken not earlier than between twenty-four (24) and forty-eight (48) hours post transfusion. start time. A second repeat collection shall be taken at thirty (30) days or day of discharge, whichever comes first. If a pre-transfusion collection cannot be obtained, a collection must be obtained between twenty-four (24) and forty-eight (48) hours after transfusion, and a final specimen must be collected between two (2) and four (4) months after transfusion. No additional specimens shall be collected unless requested by the department or the newborn screening laboratory. If a newborn or an infant is in the neonatal intensive care unit (NICU), the algorithm in subsection (h) must be followed. (g) Except for newborns and infants described in subsection (f), (h) For newborns or infants within in the neonatal intensive care unit NICU, the initial collections shall collection must be taken not earlier than twenty-four (24) hours after birth and not later than forty-eight (48) hours after birth. A repeat collection shall be taken at thirty (30) days or day of discharge, whichever comes first. If a newborn or an infant remains admitted to the NICU on the fourteenth day after birth, a second specimen must be collected on that day. If an infant remains admitted to the NICU on the thirtieth day after birth, a third specimen must be collected on that day. No additional specimens shall be collected unless requested by the department or the newborn screening laboratory. (i) Screening methods may include, but are not limited to, the following: Sec. 3.5. (a) Beginning July 1, 2021, Except: every newborn shall be given a pulse oximetry screening examination not earlier than twenty-four (24) and not later than forty-eight (48) hours after birth. (b) For infants exempted under subsection (a)(4), providers shall use best judgment for performing a pulse oximetry screening, after the infant has been removed from oxygen or respiratory support. (c) Pulse oximetry screenings shall must be taken from pulse oximetry readings on the right hand and either foot. (d) A passing pulse oximetry reading is an initial reading or a repeat reading, which is: (e) Except as provided in subsection (f), newborns who do not pass the initial pulse oximetry reading as described in subsection (d) shall have one (1) repeat reading following the initial screening, performed one (1) hour after the initial reading. If the newborn does not pass the initial or repeat reading as described in subsection (d), the newborn shall be immediately assessed through an established clinical pathway for definitive diagnosis of critical congenital heart disease. (f) Newborns with an initial pulse oximetry reading of less than ninety percent (90%) in the right hand or foot shall be immediately assessed through an established clinical pathway for definitive diagnosis of critical congenital heart disease. (g) Newborns requiring immediate assessment as required in either subsection (e) or (f) shall be given, at a minimum, diagnostic testing via echocardiogram. (h) Providers shall ensure pulse oximetry screening information, including saturation percentages, is completed on the newborn's screening card or the religious refusal form, if applicable. If an infant meets an exception to pulse oximetry screening under subsection (a), the provider shall ensure that information is reported to the department in the monthly summary report. Sec. 4. An approved laboratory must meet the following requirements in order to perform screening tests for disorders on dried blood samples from newborns or infants: Sec. 5. Specific reporting/follow-up requirements vary based on whether the analysis indicated whether the specimen met all requirements for a valid screening test and whether the screening results were normal, unsatisfactory, abnormal, presumptive positive, or confirmed positive. The laboratory shall report as follows: Sec. 6. (a) Each hospital, or birthing center, and midwife, or physician submitting screening tests on newborns or infants born outside a hospital or birthing center samples shall maintain a newborn screening log that shall must contain the following: (b) The log shall must be reviewed daily to determine that the results of required tests screens have been recorded within fourteen (14) days of discharge, or that a parent's signed religious waiver has been filed in the infant infant's or newborn's medical record. (c) Whenever a hospital, birthing center, physician, or midwife determines that a discharged newborn or infant has not received the mandated tests, screens, the hospital, birthing center, physician, or midwife shall must immediately contact the responsible health care provider the newborn's or infant's family by telephone to inform him or her that a specimen must be obtained and immediately send a written notification to the responsible health care provider and MCH/NBS. to coordinate the collection of the missing screens. If the responsible health care provider cannot be contacted within three (3) days or will not obtain a specimen, the hospital, birthing center, physician, or midwife shall notify MCH/NBS immediately by telephone and shall send written notification within three (3) days to MCH/NBS. MCH/NBS shall then is unable to obtain the missing screen, the hospital, birthing center, physician, or midwife must immediately notify the local health officer, who shall arrange collection of a specimen. MCH/PHG, who will provide further direction. (d) Whenever a hospital, birthing center, physician, or midwife determines that a specimen has been obtained, but there are no results available in the infant infant's or newborn's medical record within fourteen (14) days of discharge, the hospital, birthing center, physician, or midwife shall obtain the results from the laboratory by telephone or fax and request that another written copy be sent. The hospital, birthing center, physician, or midwife shall also notify MCH/NBS MCH/PHG that results have not been received. If no results are available from the laboratory, then the hospital, birthing center, physician, or midwife shall proceed as in section 7(c) of this rule. (e) When the responsible health care provider is notified by telephone by the hospital, birthing center, physician, or midwife that a newborn or an infant was discharged before a specimen was taken, or if the health care provider determines from his or her their own records that no test screen has been performed or that no results are available, the responsible health care provider shall make every reasonable effort to have a specimen obtained within three (3) days of notification. If the responsible health care provider cannot obtain the specimen, the health care provider shall notify MCH/NBS MCH/PHG immediately by telephone. The telephone notification shall must be noted in the responsible health care provider's record, specifying the date of notification, the person notified, and the information provided. (f) When the responsible health care provider, hospital, birthing center, or midwife is notified by the laboratory by telephone or electronically that a specimen is inadequate, unsatisfactory or rejected, the health care provider, so notified hospital, birthing center, or midwife shall make every reasonable effort to have an adequate repeat specimen obtained within forty-eight (48) hours of notification. If the responsible health care provider so notified cannot obtain the repeat specimen, the health care provider shall notify MCH/NBS MCH/PHG immediately by telephone. The telephone notification shall must be noted in the responsible health care provider's records, specifying the time and date of notification, the person notified, and the information provided. (g) All repeat specimens shall must be forwarded to a designated laboratory within twelve (12) twenty-four (24) hours. If courier service is not available within twenty-four (24) hours, specimens must be sent with the first available courier after they have been obtained. (h) MCH/NBS MCH/PHG shall make every reasonable effort to follow up on all newborns and infants that have been reported as not having received a completed screening in an attempt to ensure that all newborns and infants born in the state of Indiana will have received the required screening for disorders. (i) Hospitals, birthing centers, midwives, and physicians providing home birth services shall provide monthly reports to the department indicating the total number of live births, any exceptions to screening, all applicable religious waivers, and the number of newborns or infants for whom specimens were submitted for initial newborn screening. Sec. 7. (a) When the responsible health care provider is notified by telephone or electronically by the laboratory of an initial presumptive positive test abnormal screen result, the responsible health care provider shall obtain the department approved repeat blood recommended follow-up specimen from the newborn or infant and submit it to the designated laboratory that meets the requirements of section 4 of this rule within forty-eight (48) hours. If the blood specimen cannot be obtained within forty-eight (48) hours, the responsible health care provider shall notify MCH/NBS MCH/PHG by telephone or electronically. The telephone notification shall must be noted in the responsible health care provider's records, specifying the date of notification, the person notified, and the information provided. MCH/NBS MCH/PHG will notify the local health officer infant's family and provide the necessary follow-up to ensure that the repeat blood recommended follow-up specimen is obtained. (b) It shall be is the responsibility of the responsible health care provider or if none, the local health officer to report the following immediately all abnormal results from the newborn screening in order to recommend the appropriate diagnostic and possible therapeutic procedures to the newborn newborn's or infant's parent. (c) (b) When the repeat blood specimen result supports a presumptive diagnosis of a disorder, the laboratory shall notify MCH/NBS MCH/PHG, the state-contracted care coordination partner, and the responsible health care provider, or local health officer, as appropriate. The responsible health care provider retains responsibility for the newborn's, infant's, or child's case management as the primary health care provider and shall collaborate with the state-contracted care coordination partner to arrange for necessary confirmatory testing. The state-contracted care coordination partner shall collaborate with the primary health care provider of the infant by communicating the following to the health care provider or family, either directly or by appropriate referrals: (d) (c) When the responsible health care provider is notified of a presumptive positive or abnormal newborn screening result for a newborn or an infant in the neonatal intensive care unit (NICU), regardless of whether the specimen was an initial or routine repeat specimen, the responsible health care provider shall provide follow-up as outlined above. (e) The responsible health care provider retains responsibility for the newborn, infant, or child's case management as the primary health care provider and shall make arrangements for the necessary diagnosis, therapy, and genetic counseling about the clinical and etiologic nature of the disorder, the chance of recurrence in subsequent children and other family members, existing resources for comprehensive clinical management, and family emotional and financial support. These can be provided directly by the responsible health care provider or by referral to appropriate specialists. (f) (d) The department state-contracted care coordination partner shall advise the responsible health care provider of the available referrals and programs for further evaluation, genetic counseling, and management available to the patient and family. These shall include, but are not limited to, care by the following: In the case of newborns, infants, or children identified as carriers of an inherited hemoglobin abnormality (individuals with trait), the department shall recommend further evaluation of parents and appropriate counseling. (g) (e) All physicians and audiologists making an initial diagnosis of a treatable disorder for which testing is required under IC 16-41-17 shall report such the diagnosis and the information necessary for follow-up to the department. The reporting is mandatory for physicians and audiologists making the initial diagnosis, and should be reported in the format and media approved by the department. Physicians and audiologists caring for Indiana newborns, infants, or children who have been diagnosed outside the state of Indiana with a disorder for which testing is required under IC 16-41-17 shall report in a similar manner. (h) (f) The department shall maintain the following: These records shall be utilized only for the purpose of service delivery and program administration and shall be managed in accordance with 410 IAC 21-3. (i) (g) The department shall develop and maintain a statewide network of follow-up, care coordination, genetic evaluation, and counseling services. Regional genetic services centers and outreach services from these centers State-contracted care coordination partners shall serve as local evaluation and counseling resources for the follow-up program described in this section. Sec. 13. (a) The program involving the department and MCH/NBS MCH/PHG as described in this rule shall be funded by the collection of a newborn screening fee for each initial newborn screening performed. The designated laboratory shall assess and collect the full amount of the newborn screening fee from hospitals, birthing centers, public health nurses, physicians, and midwives submitting newborn screening specimens. No surcharge will be assessed, collected, or reported for newborns or infants receiving repeat screens. The accumulated collections from the newborn screening fees shall must be submitted on a monthly basis by the designated laboratory to the division of finance at the department. Payments shall must be postmarked not later than five (5) ten (10) days after the close of the preceding month. The designated laboratory shall also submit a monthly report on the number of newborns screened. Revenues submitted by the laboratory shall correspond with the number of newborns screened. specimens received at the laboratory. (b) The newborn screening fee shall be one hundred twenty dollars ($120) based on the projected cost of the program described in this rule and the estimated number of newborns per year. The fees shall be deposited in the newborn screening fund. Funds for the program described in this rule shall be disbursed by the department in accordance with normal procedures prescribed by the state budget agency and the state board of accounts. is one hundred thirty-five dollars ($135). The fee shall must be reviewed annually by the department. Documents Incorporated by Reference: None Received by Publisher Small Business Regulatory Coordinator: Kendra Harper, Indiana Department of Health, 2 North Meridian Street, Indianapolis, IN 46204, (317) 233-7408, Kharper1@health.in.gov