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.

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. (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. (2) there is a standard of care screening test that is universally available;
3. (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. (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. (5) there are resources for and access to treatment and family counseling; and
6. (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.

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.