Overview
The Perinatal Genetics and Genomics Advisory Committee was established to recommend the addition of a disorder to, or deletion of a disorder from, the required newborn screening panel.
The committee follows an established process for adding conditions to the Indiana newborn screening (NBS) panel. This process allows for discussion, evaluation and a vote by the committee, before a recommendation is made to the health department. The committee will review conditions added to the national Recommended Uniform Screening Panel (RUSP) as well as public nominations in chronological order by federal approval for RUSP conditions or receipt of public nominations, respectively.
The NBS condition nomination process begins when an Indiana resident completes and submits a Condition Nomination Form (Burmese, Haitian Creole, Spanish). The nominator must be an Indiana resident aged 18 years or older, and all nominations should have one co-nominator. All individual or family advocates nominating a condition must include a physician co-nominator with expertise in the condition. The physician does not have to reside in Indiana, but may be consulted by the PGG for additional expertise on the condition. This will ensure the most updated scientific evidence is provided and will streamline the evidence review and evaluation process.
Before completing the Condition Nomination Form, please review the criteria listed below that must be met for a condition to be eligible for evaluation by the committee. A nominated condition must meet the following five (5) criteria to be eligible to be added to the IN NBS Panel:
Criteria for the addition of NBS conditions | Considerations |
Criterion 1: Mandated screening should be limited to conditions that cause serious health risks in childhood that are unlikely to be detected and prevented in the absence of newborn screening. | Does this condition cause serious health risks that, without newborn screening, would go undetected until symptom onset in childhood? |
Criterion 2: Conditions identified by newborn screening should have safe, effective, and approved treatment options available to all Indiana patients. | Are there safe, effective, and approved treatment option(s) available to all patients in Indiana? |
Criterion 3: Mandated screening for a condition should be affordable, feasible, and effective.
| Is the screening for this condition affordable, feasible, and effective? |
Criterion 4: Conditions identified through newborn screening should have an approved confirmatory test that is feasible and available to all patients. | Is the approved confirmatory testing for this condition feasible and available to all patients in Indiana? |
Criterion 5: Long-term management and care for the condition should be readily available to all patients and shown to improve quality of life. | Is long-term management and care for the condition readily available to all patients in Indiana? |
Once a complete condition nomination form is received, it will be reviewed by the committee. During the evidence review and evaluation process, the committee may request additional information from the nominator and/or co-nominator. Once the committee completes the evidence review and evaluation, the committee may motion for a vote on whether to recommend the addition of the condition to Indiana's newborn screening panel. If the committee votes in favor of recommending the nominated condition be added to Indiana's newborn screening panel, then the committee will submit their recommendation to IDOH for internal considerations including fiscal considerations and statutory updates.
Current conditions being evaluated by the advisory committee:
Condition Name | Nomination Type | Date Nominated | Status |
Gaucher disease | Public | 10/23/2023 | Committee voted to recommend |
Niemann-Pick disease | Public | 02/26/2024 | Criteria not met |
Duchenne Muscular Dystrophy | Public | 04/23/2024 | Committee voted to recommend |
| Mucopolysaccharidosis Type II (MPS II) | RUSP | 08/02/2022* | Committee voted to recommend |
Guanidinoacetate Methyltransferase (GAMT) | RUSP | 01/04/2023* | Committee voted to recommend |
*Date of RUSP Secretary approval
If you have any questions regarding the NBS condition nomination process, please contact the newborn screening program at NewbornScreening@health.in.gov.
Resources