Develop Programs To Speed Diagnosis

Newborn Screening

If early diagnosis of those that can benefit from the newly approved therapy really means the diagnosis needs to occur soon after birth, you will want to determine whether it is possible for your disease to be added to the newborn screening panel. Your group can take an active advocacy role at both the national and state levels. 

• Eligible diseases: To be considered to be added to newborn screening, a disease must meet the 3 main qualifications.
  • The disease can be identified within 24 to 48 hours after birth and would not ordinarily be detected clinically during this same time period.
  • A test with appropriate sensitivity and specificity is available for it.
  • There are demonstrated benefits of early detection, timely intervention, and effective treatment of the disease.
• Key considerations: Both federal and state newborn screening advisory committees evaluate the addition of a new disorder based on certain key considerations.
  • Screening is needed to identify all newborns who may need treatment and there is research/clinical evidence supporting this claim.
  • States have the ability to perform the screening test and can afford the added cost.
  • There is a significant risk of illness, disability, or death if infants are not treated promptly.
  • Effective treatment is available.
  • Treatment is more beneficial in the newborn period than later.
  • Resources and access to treatment and counseling are widely available.
  • The benefits to babies and to society outweigh the risks and burdens of screening and treatment.
• National level: The U. S. Department of Health and Human Services(HHS) Advisory Committee on Heritable Disorders in Newborn and Children (the Committee), established under the Public Health Service Act, reviews and evaluates the addition of diseases to the recommended list of newborn screening disorders.
  • The Committee advises the Secretary of HHS on universal newborn screening test guidelines, standards and technology.
  • New disorders are added to the national Recommended Uniform Screening Panel (RUSP) after being supported by the Committee and recommended by the Secretary of HHS.
  • The RUSP is not a mandate; decisions of which tests to add to the newborn screening panel are made at the State level. 
  • The Committee encourages individuals and organizations to form multi-disciplinary teams to submit nominations for conditions to be considered for inclusion on the RUSP. Teams should include:
    • Researchers and/or clinicians with expertise on the condition being nominated.
    • Advocacy and/or professional organizations with knowledge of issues relevant to newborn screening.
    • Interested consumers/individuals.
  • Nominate a Condition is the Committee webpage with information about nominating diseases for consideration of addition to the RUSP. 
• State level: States rely on technical, clinical, and community advisory groups to evaluate the addition of new newborn screening tests for particular disorders. 
  • The process for adding new diseases or disorders to a state’s newborn screening panel differs among states. Some states:
    • Consult advisory panels to assist in making recommendations.
    • Require legislation to enact a change.
    • Regulate authority to revise the newborn screening panel to the state health department.
  • Most states have state advisory committees that review recommendations by stakeholder groups and compare them with the national RUSP.  These states may:
    • Follow the RUSP in adding new disorders to state panels.
    • Consider the RUSP, as one factor in decision-making.
    • Take a more active and state-centered role in decision-making.
  • Screening lab capabilities and capacity also vary among states. 
    • Most states have an in-state laboratory.
    • Some send their tests to a regional laboratory or contract with a commercial laboratory.  Regional labs:
      • May be more affordable for less-populated states.
      • May have limited capabilities, which could make adding new diseases to a state’s screening panel more difficult.
  • States may choose to add diseases to their newborn screening panel that have not yet been added to the RUSP.
  • Deliberations on adding new disorders are often public, with opportunity for input from health care providers, medical experts, parents, advocates, legislators and public health programs.
  • Disease prevalence may also be a considered factor as the state weighs the cost of the test against the likelihood of identifying a child with the disease. 
• Supporting resources: The addition of a disease to the national RUSP and state newborn screening panels requires research evidence that the screening test and treatment meet the appropriate qualifications and standards as well as a strong team of advocates.
  • Umbrella groups and patient groups that have recently accomplished having their disease added to the RUSP and states’ newborn screening panel, even if this has not been accomplished in every state, are a prime resource for learning how best to organize your advocacy efforts. 
  • The Centers for Disease Control and Prevention (CDC) plays several active roles in newborn screening, some of which may be helpful as you advocate for inclusion on state panels.
    • CDC Newborn Screening Portal provides links to more information about the CDC’s activities, goals, and efforts related to newborn screening.
  • Newborn Screening Translational Research Network (NBSTRN) focuses on supporting newborn screening research.
    • Goals include:
      • Facilitating ground-breaking research in newborn screening designed to discover new tests, conditions and treatments
      • Fostering a collaborative and integrative network of researchers, clinicians, families and public health partners to understand newborn screening outcomes.
      • Supporting pilots that inform the infrastructure, programming, and policies needed to expand and improve newborn screening
    • NBSTRN states it can help:
      • Build new connections and strengthen partnerships across government, academia, clinical care, public health and industry.
      • Support data collection and data storage of phenotypic and genomic sequencing information for newborn screening research.
      • Connect you with the resources and partnerships to support your initiatives in newborn screening research.
      • Provide guidance for your research in ethical, legal, and social issues important in newborn screening research studies and pilot studies.
      • Contribute to our growing Longitudinal Pediatric Data Resource (LPDR).
      • Support the analytical and clinical validation of new technologies and track emerging findings from pilots in the NBS Research Repository.
      • Enable new knowledge discovery through secondary use of accumulated data.
    • Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN (2014) addresses questions related to parental permission for newborn screening pilot studies as new conditions are considered for inclusion on newborn screening programs.
  • Baby’s First Test Public Square provides an open space dedicated to conversations about newborn screening. 

Resources