105 CMR 270.00 — Blood screening of newborns for treatable diseases and disorders

105 CMR: DEPARTMENT OF PUBLIC HEALTH 105 CMR 270.000: BLOOD SCREENING OF NEWBORNS FOR TREATABLE DISEASES AND DISORDERS Section 270.001: Purpose 270.004: Definitions 270.005: Newborn Blood Screening Advisory Committee 270.006: Diseases and Disorders Included in Newborn Blood Screening 270.007: Collection and Submission of Newborn Blood Specimens 270.008: Newborn Blood Screening Fees 270.009: Notification of Newborn Blood Screening Test Results 270.010: Follow-up of Newborn Blood Screening 270.011: Confidentiality of Newborn Screening Test Results and Information 270.012: Storage and Use of Residual Specimens 270.013: Severability

105 CMR 270.00 Blood screening of newborns for treatable diseases and disorders

270.001 Purpose

270.001: Purpose The purposes of 105 CMR 270.000 are to: (A) list those diseases and disorders with treatments that are known to be more effective if the condition is identified in the newborn period and for which there is a reliable and effective blood screening test that may be administered during the newborn period, and that there is a diagnostic protocol; and (B) ensure that every newborn is screened for markers of these diseases and disorders; and (C) make available Optional Newborn Blood Screening for another set of diseases and disorders with treatments that are thought to be effective if the condition is identified in the newborn period and for which testing shall be offered under an optional protocol to collect critical population-based data on prevalence of these diseases and disorders in the Massachusetts population, their natural history, and the efficacy of screening, diagnostic, and treatment protocols.

270.004 Definitions

270.004: Definitions Approved Research means a research study that has been approved by the Department and a federally approved Institutional Review Board. Department means the Department of Public Health or its designated agent. Diagnostic Evaluation means the clinical evaluation of an individual or the laboratory testing of a clinical specimen from an individual with signs or symptoms or screening indicators of a disease or disorder in order to confirm or rule out the disease or disorder in that individual. Early Childhood means the period from birth through eight years old. Health Care Provider means any licensed provider involved in the delivery or care of a person, including but not limited to, obstetricians, gynecologists, certified nurse midwives, certified professional midwives, neonatologists, pediatricians, family medicine physicians, and nurses. Health Care Provider Attending a Newborn means the Director of Newborn Medicine or other treating physician designated by the hospital of birth/neonatal care unit to care for the newborn, or the physician who certifies the birth of the newborn, or any licensed provider involved in the delivery or care of the newborn including but not limited to, obstetricians, gynecologists, certified nurse midwives, licensed certified professional midwives, neonatologists, pediatricians, family medicine physicians, and nurses. Infant means any liveborn person who has yet to have had a first year birthday. 6/5/26 105 CMR - 1281 (Mass. Register #1575, 06/05/2026)

105 CMR: DEPARTMENT OF PUBLIC HEALTH

270.004 continued

270.004: continued Institutional Review Board (IRB) means an appropriately constituted group that has been formally designated to review and monitor biomedical research involving human subjects in accordance with 45 CFR Part 46. Mandated Newborn Blood Screening means the required statewide collection and testing of newborn blood specimens from all newborns in Massachusetts and related follow up activities for the benefit of the child tested (subject to religions exemption only) for diseases and disorders for which: (1) there is a significant, life-challenging risk of morbidity or mortality to those who have the disease or disorder if they are not treated in the newborn/infant period or early childhood period for certain disorders; (2) there is a standard of care screening test that is universally available; (3) there is a standard of care diagnostic evaluation that is universally available for all newborns/infants or those in the early childhood period for certain disorders whose newborn screening results warrant such evaluations; (4) there is a standard of care treatment that is universally available for the screened newborn/infant or those in the early childhood period with a confirmed diagnosis and that should begin in the newborn/infant period to be beneficial to the screened newborn with a confirmed diagnosis; (5) there are resources for and access to treatment and family counseling; and (6) the positive health benefits to the screened person outweigh the risks and burdens of screening and treatment. Newborn means any liveborn infant who is 28 days old or younger. Newborn Blood Screening Program means the program operated either by the Department or its agent to conduct Mandated and Optional Newborn Blood Screening for the Commonwealth's newborns and newborns receiving healthcare in the Commonwealth. Newborn Blood Screening Information or Data means the newborn screening test results or any information collected or maintained by the Newborn Blood Screening Program, except a blood specimen, that relates to screening, diagnostic, or treatment information concerning a specific individual. Optional Newborn Blood Screening means the universal offering of one or more pilot studies to the newborn population. Pilot Study means a research protocol with an informed consent process approved by the Department's Institutional Review Board that includes statewide testing of newborn blood specimens and related follow up activities offered for those diseases and disorders that do not meet the criteria for Mandated Newborn Blood Screening but are likely, based on an evaluation of additional information to be gained through the pilot study, to have the potential to meet the criteria for mandatory screening and provide a benefit to newborns. Pilot studies provide for the maintenance of specimen identifiers, allowing study results to be linked to, and reported for, specific individuals. Research means a systematic investigation, including research development, testing, and evaluation, designed to develop or contribute to generalizable knowledge. Residual Specimen means any dried blood spot collected in accordance with 105 CMR 270.000 that remains following the completion of newborn blood screening and any necessary follow-up for the benefit of the child tested. Screening Tests means the laboratory testing of clinical specimens from a population of individuals regardless of health status to detect markers or risk factors of a disease or a disorder. Specimen means a blood sample collected according to Newborn Blood Screening Program guidelines on the filter paper that is provided by the Newborn Blood Screening Program. 6/5/26 105 CMR - 1282

105 CMR: DEPARTMENT OF PUBLIC HEALTH

270.004 continued

270.004: continued Treatment means an intervention with demonstrated effectiveness to prevent or reduce symptoms or to delay progression of disease that is associated with the diagnosed condition identified in the infant via newborn screening, including, but not limited to interventions that are dietary/nutritional, physical therapy, genetic, cellular, pharmaceutical, surgical, radiological, behavioral, or environmental.

270.005 Newborn Blood Screening Advisory Committee

270.005: Newborn Blood Screening Advisory Committee (A) The Commissioner shall establish a permanent advisory committee to advise the Commissioner on matters pertaining to the Newborn Blood Screening Program including, but not limited to: (1) the listing of treatable diseases and disorders that meet the criteria in the definition of "Mandated Newborn Blood Screening" for which newborn blood screening should be mandated; (2) the listing of diseases and disorders that meet the criteria in the definition for "Pilot Study" that are offered as Optional Newborn Blood Screening; (3) quality assurance and control measures utilized for the operation of the Newborn Blood Screening Program; and (4) new and emerging research in newborn screening. (B) Membership of the committee may include, but not be limited to, parents and other consumers, practicing pediatricians, public health officials, neonatologists, obstetricians, clinicians and researchers specializing in newborn diseases and disorders, clinical geneticists, birth hospital representatives, Newborn Blood Screening Program professionals, medical ethicists, and other experts as needed to represent a variety of related fields such as emerging technologies and health insurance. (C) The committee shall meet not less than twice per year. (D) On an annual basis, the Newborn Blood Screening Program shall submit to the committee a report on the quality assurance and control measures utilized for the operation of the Newborn Blood Screening Program and the committee shall review and provide guidance on these measures.

270.006 Diseases and Disorders Included in Newborn Blood Screening

270.006: Diseases and Disorders Included in Newborn Blood Screening (A) Mandated Newborn Blood Screening. The following diseases and disorders shall be included in mandated newborn screening: (1) Inborn Errors of Metabolism. (a) Amino Acid Disorders:

Homocystinuria (HCY);
Maple Syrup Urine Disease (MSUD);
Phenylketonuria (PKU);
Tyrosinemia, Type I (TYR I). (b) Fatty Acid Oxidation Disorders:
Carnitine-Acylcarnitine Translocase Deficiency (CACT);
Carnitine Uptake Defect (CUD);
Long-chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD);
Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD);
Very long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD). (c) Organic Acidemias:
Beta-Ketothiolase Deficiency (BKT);
Glutaric Acidemia type I (GAI);
3-Hydroxy-3-Methylglutaric Aciduria (HMG);
Isovaleric Acidemia (IVA);
Methylmalonic Acidemia: methylmalonyl CoA mutase deficiency (MUT);
Methylmalonic Acidemia: cobalamin A, B (Cbl A,B);
Methylmalonic Acidemia: cobalamin C, D (Cbl C,D);
Propionic Acidemia (PA). 6/5/26 105 CMR - 1283

105 CMR: DEPARTMENT OF PUBLIC HEALTH

270.006 continued

270.006: continued (d) Urea Cycle Disorders:

Argininemia (ARG) aka Arginase Deficiency;
Argininosuccinic Aciduria (ASA) aka Argininosuccinate Lyase Deficiency;
Carbamylphosphate Synthetase Deficiency (CPS);
Citrullinemia, Type I aka Argininosuccinate Synthetase Deficiency (CIT-I);
Ornithine Transcarbamylase Deficiency (OTC). (e) Storage Disorders and Leukodystrophies:
Glycogen Storage Disorder-II (GSD-II aka Pompe);
Krabbe disease (globoid cell leukodystrophy) (KD) (for specimens received on or after January 1, 2027);
Mucopolysaccharidosis type 1 (MPS-I);
X-linked adrenoleukodystrophy (X-ALD);
Metachromatic leukodystrophy (MLD) (for specimens received on or after July 1, 2027); (f) Other Disorders of Metabolism:
Biotinadase Deficiency (BTD);
Galactosemia Classical (GALT);
Guanidinoacetate methyltransferase (GAMT) (for specimens received on or after January 1, 2027). (2) Other Genetic Disorders: (a) Hemoglobin Sickling Disorders including but not limited to:
Sickle cell anemia (Hb SS);
Hb S/C disease (Hb SC);
Hb S/Beta -thalassemia (Hb S/BetaThalassemia). (b) Cystic Fibrosis (CF); (c) Severe Combined Immunodeficiency (SCID). (d) Neuromuscular Disorders:
Duchenne Muscular Dystrophy (DMD)
Spinal Muscular Atrophy (SMA) (3) Other Congenital Disorders: (a) Endocrinopathies:
Congenital Adrenal Hyperplasia (CAH);
Congenital hypothyroidism (CH) (b) Infectious Diseases: 1.Congenital Toxoplasmosis (TOXO) (B) Pilot Studies. The Newborn Blood Screening Program shall identify and maintain a list of diseases and disorders that shall be included in the Optional Newborn Blood Screening as Pilot Studies. A current list of diseases and conditions available for optional screening shall be included in the Newborn Screening in Massachusetts brochure provided to parents and guardians and shall be maintained on the web page for the New England Newborn Screening Program (C) By-product Conditions. Due to the technology used for some screening tests, and tests used to confirm results, and/or the physiology associated with the disorders being tested for, some conditions not listed in 105 CMR 270.006(A) or offered as Pilot Studies pursuant to 105 CMR 270.006(B) may be identified during the screening process. These by-product conditions do not currently meet the criteria for mandated screening or pilot studies. These by-product conditions are listed in the Newborn Blood Screening in Massachusetts brochure provided to parents and guardians and are maintained on the web page for the Newborn Blood Screening Program. 6/5/26 105 CMR - 1284

105 CMR: DEPARTMENT OF PUBLIC HEALTH

270.007 Collection and Submission of Newborn Blood Specimens

270.007: Collection and Submission of Newborn Blood Specimens (A) Except as provided in 105 CMR 270.007(C), the health care provider attending a newborn shall ensure that a blood specimen is collected from the newborn between 24 and 48 hours after the birth. If a newborn child is discharged within the first 24 hours after the birth, the health care provider attending a newborn shall ensure that a blood specimen is collected prior to discharge and shall instruct the parents/guardians of the newborn to have a second specimen collected from the newborn within 48 hours of birth, and shall submit to the Newborn Blood Screening Program the contact information of the infant's health care provider. The health care provider of a child after discharge from the birth hospital shall ensure that any repeat specimens requested by the Newborn Blood Screening Program are collected. (B) The health care provider attending a newborn shall ensure that the blood specimen is collected from the newborn using the filter paper blood collection device provided by the Newborn Blood Screening Program and shall ensure that the specimen is submitted within 24 hours of collection or at next available specimen shipment for delivery to the Newborn Blood Screening Program in accordance with directions provided on the device and other supplemental information that may be provided by the Newborn Blood Screening Program. All information requested must be provided on the form associated with the device. (C) If any parent or guardian objects to Mandated Newborn Blood Screening, the health care provider attending a newborn shall provide information about the benefits of mandated newborn screening and about the risks to the child from infancy through the early childhood period of refusing mandated newborn screening. A medical interpreter should be provided if necessary. If all of the newborn's parents or guardians with legal custody refuse mandated newborn blood screening based on a conflict with their religious tenets and practices after being provided this information, the health care provider attending a newborn shall not conduct the newborn blood screening required by 105 CMR 270.007(A) and shall document the refusal on a form provided by the Newborn Blood Screening Program. The completed and signed form shall be sent to the Newborn Blood Screening Program and to the newborn's health care provider. (D) The health care provider attending a newborn shall ensure that a copy of the Newborn Screening in Massachusetts brochure is provided to parents or guardians prior to the collection of blood spots to inform them about the mandated screening tests and the availability of Optional Screening for Pilot Studies as specified in 105 CMR 270.006(B). (E) The health care provider attending a newborn shall ensure that the consent and documentation procedures, as specified by the Newborn Blood Screening Program, are followed.

270.008 Newborn Blood Screening Fees

270.008: Newborn Blood Screening Fees The Newborn Blood Screening Program shall bill the hospital of birth, or the parents for out-of-hospital births, a reasonable charge for the services associated with the testing of newborns for those diseases or disorders screened for pursuant to 105 CMR 270.006 and for notification and follow-up to ensure treatment of affected newborns.

270.009 Notification of Newborn Blood Screening Test Results

270.009: Notification of Newborn Blood Screening Test Results (A) The Newborn Blood Screening Program shall notify the hospital of birth and the health care provider listed by the hospital on the newborn screening collection device or the health care provider determined to be the infant's health care provider of the results of the newborn blood screening tests as soon as feasible. The infant's health care provider shall notify the parent or guardian of the newborn of the newborn's screening test results. (B) The Newborn Blood Screening Program shall provide to the health care provider, upon request, the results of all or specified newborn blood screening tests for his or her patient. 6/5/26 105 CMR - 1284.1

105 CMR: DEPARTMENT OF PUBLIC HEALTH

270.010 Follow-up of Newborn Blood Screening

270.010: Follow-up of Newborn Blood Screening For the purposes of quality assurance, quality improvement and ongoing evaluation of the effectiveness of the Newborn Blood Screening Program, including the determination of those disorders and diseases that should be included in the Department's Newborn Blood Screening Program, the health care provider shall report to the Newborn Blood Screening Program, upon request, the following information as soon as possible but no later than 30 days after the request: (A) Diagnostic and long term outcomes for all newborns whose newborn screening results warranted diagnostic evaluation for a newborn screening disorder or disease; and (B) Any additional relevant information regarding these diagnostic and long term outcomes as specified by the Newborn Blood Screening Program.

270.011 Confidentiality of Newborn Screening Test Results and Information

270.011: Confidentiality of Newborn Screening Test Results and Information (A) The Newborn Blood Screening Program shall maintain the confidentiality of testing results generated by the Program and information submitted to the Program for purposes of newborn screening and follow-up of newborn testing. (B) Other than as required for routine notification of newborn blood testing results or for follow up diagnosis or treatment of an individual as described in 105 CMR 270.009, the Newborn Blood Screening Program shall not disclose newborn screening results or any information or patient identifiers which because of name, identifying number, mark or description can be readily associated with a particular individual or the individual's parents/guardians, or any newborn screening information that could be used in combination with other information to identify an individual, except to: (1) that individual; (2) the individual's parents or guardians if a minor; (3) the personal representative of the individual's estate; (4) anyone authorized in writing by that individual or the individual's legal representative; (5) authorized Department and Newborn Blood Screening Program personnel; (6) authorized staff at other state newborn screening programs responsible for the follow up of the particular newborn; (7) anyone authorized to receive such information pursuant to a court order; (8) anyone authorized to receive such information by law, including, but not limited to, a state or local child fatality review team pursuant to M.G.L. c. 38, § 2A, at the request of the local district attorney, or the Office of the Chief Medical Examiner pursuant to M.G.L. c. 38, § 4, at the request of the Chief Medical Examiner, or his or her designee, in order to establish the cause and manner of death and identity of the deceased; or (9) any researcher approved by the Department to conduct a specific study pursuant to M.G.L. c. 111, § 24A, and when approved by an Institutional Review Board. Newborn screening information or data that could be used to identify an individual shall not be disclosed to a researcher without the written consent of a parent or guardian unless a waiver of consent has been issued from an Institutional Review Board. (C) All individually identifiable newborn screening information or data shall be considered confidential and shall not be available as a public record under M.G.L. c. 66.

270.012 Storage and Use of Residual Specimens

270.012: Storage and Use of Residual Specimens (A) The Newborn Blood Screening Program is the custodian of Residual Specimens. Residual Specimens shall be retained, stored, used, and destroyed by the Newborn Blood Screening Program only in accordance with 105 CMR 270.000. Residual Specimens shall be retained in a secure environment under the direction of the Newborn Blood Screening Program. The Program shall ensure that no specimen shall be retrieved or shared for any purpose other than authorized uses specified in 105 CMR 270.000. 6/5/26 105 CMR - 1284.2

105 CMR: DEPARTMENT OF PUBLIC HEALTH

270.012 continued

270.012: continued (B) The Newborn Blood Screening Program shall retain and use Residual Specimens for a minimum of 15 years and a maximum of 16 years, except upon written request for destruction from all parents or legal guardians of a child, the Newborn Blood Screening Program shall destroy a stored Residual Specimen as soon as practicable, but no later than one year from the receipt of a written request. After 16 years from the date of birth of a child, the newborn screening specimen shall be destroyed. (C) Residual Specimens shall be used and shared for only the following purposes, subject to specimen availability as determined by the Newborn Blood Screening Program: (1) Laboratory Quality Assurance, including laboratory quality control, laboratory validation, participation in proficiency testing, and the practice of continuous quality improvements; (2) Individual or family clinical benefit with individual or parent/guardian authorization in writing; (3) Individual or family forensic purposes with individual or parent/guardian authorization in writing; (4) Uses authorized by law including, but not limited to, an investigation of a child death by a state or local child fatality review team pursuant to M.G.L. c. 38, § 2A, at the request of the local district attorney, or by the Office of the Chief Medical Examiner pursuant to M.G.L. c. 38, § 4, at the request of the Chief Medical Examiner, or his or her designee, in order to establish the cause and manner of death and identity of the deceased; (5) In response to a court order. Upon receipt of a court order, the Newborn Blood Screening Program shall notify the Department and the specimen subject's parent or legal guardian in writing as soon as possible in order to provide an opportunity to object to the order in court; or (6) Research studies approved by the Department pursuant to M.G.L. c. 111, § 24A and an Institutional Review Board, provided that a Residual Specimen is not provided to a researcher without the written consent of the parent or guardian.

270.013 Severability

270.013: Severability The provisions of 105 CMR 270.000 are severable. If any provision or application thereof is held to be invalid by a court of competent jurisdiction, such invalidity will be severed and will not affect the remainder of 105 CMR 270.000. REGULATORY AUTHORITY 105 CMR 270.000: M.G.L. c. 111, §§ 3, 4E, 5, 6, 24A and 110A. 6/5/26 105 CMR - 1284.3

105 CMR 270.00 — Blood screening of newborns for treatable diseases and disorders