Massachusetts Newborn Screening Program Recommendation Form

Suggest disorders to be added to Massachusetts’ newborn screening panel

The Massachusetts Newborn Screening Program Recommendation Form enables interest holders to nominate disorders for consideration by the Massachusetts Department of Public Health for inclusion in the Massachusetts Newborn Screening Panel. Nominations will be reviewed by the Newborn Screening Condition Nomination Work Group, which will present its recommendations to the Newborn Screening Advisory Committee (NBSAC) for final determination.

Massachusetts Newborn Screening Program Recommendation Form

Please follow the directions in the Nomination Protocol section below to complete the form. If you intend to nominate more than one condition, a separate form must be submitted for each condition. If you have questions about how to complete this form, please email the Newborn Screening Program Advisory Committee, Administrative Coordinator.

Background

The Massachusetts Department of Public Health’s (DPH) Newborn Screening Program helps prevent sequelae from treatable disorders through early detection. The program started in 1962 in Massachusetts and is operated by the New England Newborn Screening Program (NENSP) at the University of Massachusetts Chan Medical School. In Massachusetts, newborn screening is regulated by 105 CMR 270.000: Blood Screening of Newborns for Treatable Diseases and Disorders.

Newborn Screening Advisory Committee

105 CMR 270.005 establishes the Newborn Screening Advisory Committee (NBSAC). This permanent committee is charged with recommending lists of disorders to be included in mandated or optional screening to the Commissioner of DPH; how to best provide screening services; quality assurance and control measures to be utilized for the operations of the Program and review of emerging research in newborn screening.

Mandated Newborn Blood Screening

The list of disorders mandated for inclusion in newborn screening by DPH can be found in 105 CMR 270.006(A) and at New England Newborn Screening Program. Mandated screening for newborns is defined as the required statewide testing for disorders for which:

1. there is a significant, life-challenging risk of morbidity or mortality to those who have the condition or disorder if they are not diagnosed to facilitate early treatment (e.g., in the newborn/infant period);
2. a standard of care screening test is universally available;
3. a standard of care diagnostic evaluation is universally available for all newborns/infants whose newborn screening results warrant such;
4. a standard of care treatment for the screened newborn/infant affected with the condition or disorder is universally available;
5. a standard of care treatment in the newborn/infant period or early childhood is beneficial to the screened newborn with a confirmed diagnosis;
6. resources for and access to treatment and counseling are available; and
7. the positive health benefits outweigh the risks and burdens of screening and treatment.

Pilot Studies

DPH may authorize additional optional newborn blood screening tests. These are offered universally as voluntary “pilot studies” through a research protocol, with an informed consent process approved by DPH’s Institutional Review Board (IRB), for those disorders:

1. which do not meet all the criteria for mandated screening;
2. for which testing may provide additional information on incidence, natural history and treatment outcomes or testing of the medical condition; and
3. which may, based on an evaluation of additional information, have the potential to meet the criteria for mandated screening and provide more benefit than harm to screened newborns. The list of disorders included in statewide pilot studies can also be found at New England Newborn Screening Program.

Nomination protocol

To recommend consideration of a condition or disorder for inclusion in the Massachusetts-authorized screening, please respond to the questions below by entering the information into the Massachusetts Newborn Screening Program Recommendation Form. Upon receipt, DPH, NENSP, and NBSAC personnel will review the submission to confirm all response fields are accurate and complete. Incomplete forms will be returned to the sender for resubmission. Condition nomination forms confirmed as complete will be submitted to the NBSAC for review and consideration at their next scheduled meeting, whenever practicable. Completion of full review and potential submission of recommendations to the Commissioner may take up to 6-9 months. In addition, if recommended for addition to the mandated screening, it will need to be approved by the Commissioner of Public Health and the Public Health Council after a public hearing before the condition is added to the mandated screening list.

Required fields on the form include the following:

• Submitter Name, Affiliation, Email
• Medical condition name and description.
• How would newborn screening for this disorder save lives or prevent serious life-compromising outcomes? Provide links to all sources.
• What treatments are currently available for this medical condition? When must these treatments begin to be effective? Is the treatment a one-time treatment or across the lifespan? What are the known benefits to treating newborns for this medical condition? What are the known risks to treating newborns for this medical condition? Provide links to all sources.
• How often do these medical disorders occur in Massachusetts and in the United States? Provide links to all sources.
• Identify the available laboratory or other tests and describe their ability to accurately screen for these disorders. Provide links to all sources.
• What other states, if any, include this condition in their newborn screening program? In cases where the condition is included in other states, is it mandated or accomplished through a pilot study?

Optional questions are not required, but this information may be included if relevant to the recommendation.

• Optional: In other states that include this condition in their newborn screening program, are treatments available in that state?
• Optional: Has the condition ever been considered by the Recommended Uniform Screening Panel (RUSP) in the past? What points were made during that deliberation that led to their decision?
• Additional comments—Please share any additional information that supports the recommendation.