As part of the Cystic Fibrosis Foundation’s commitment to equity, racial justice, diversity, and inclusion, work to improve equity and timeliness in cystic fibrosis newborn screening continues through its Newborn Screening Initiative. As part of the initiative, the Foundation provides funding for the Screening Improvement Program Award for Optimizing the Diagnosis of Infants (SIP award) to research programs that are seeking to improve the newborn screening system through innovation and collaboration. The Foundation has funded more than $2.5 million across 35 awards since 2011. Today, funding focuses on improving equity and expediting CF diagnoses, especially in racially or ethnically diverse populations.
These awards have had a significant impact on improving multiple facets of the newborn screening process including:
Improving screening algorithms
Expediting follow-up of babies with positive screening tests
Addressing sweat test challenges
Enhancing nutrition of diagnosed infants
Improving education of primary care physicians and families
Enhancing family counseling by novel methods (i.e., telegenetics, a method of genetic counseling conducted via telemedicine)
SIP Award Success
For example, in 2018, researchers in Alabama received a SIP award to pursue their goal of improving knowledge and engagement of pediatricians with patients and families in the newborn screening process. The researchers developed surveys to determine barriers in the sweat testing process and provided educational tools to communicate newborn screening results to families. These tools significantly improved pediatricians’ knowledge of CF newborn screening and their ability to share this information with families in a timely manner.
Through award funding, researchers in New York looked at strategies for improving the state’s newborn screening algorithm after implementing next-generation sequencing technology to screen for cystic fibrosis. The team developed a state-based database to collect CF variant and diagnosis data for infants who screened positive for CF. Additionally, the team educated primary care physicians on both the new algorithm and interpreting results that indicated cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS). Due to the COVID-19 pandemic, many parents whose infants were diagnosed with CRMS did not return to the program for repeat sweat testing. The team was granted a one-year extension on their award to investigate quality improvement strategies to help parents return to clinic for this recommended testing.
Indiana University used their SIP award to improve rates of genetic counseling after an infant received a positive newborn screen for cystic fibrosis. After resolving copay issues through a contract with the state department of health, they recruited a CF genetic counselor to share the importance of genetic counseling with parents. Additionally, the team piloted a telegenetic counseling program for families who had a difficult time returning to the clinic for an additional appointment. Prior to the award, less than 10% of families received genetic counseling after a positive newborn screen. After the award, the number rose to more than 85%.
The Foundation is currently reviewing 2023 applications with funded projects to begin in December. An announcement for the 2024 round of applications will be made in the spring.
CF Newborn Screening
Due to the progressive nature of cystic fibrosis, it is critical that a diagnosed person begin a care regimen as early as possible to achieve positive health outcomes. Since 2010, CF has been included in newborn screening panels in all 50 states and the District of Columbia. However, because of the wide variability of methods, algorithms, and follow-up programs among states, equitable and just health outcomes have not been achieved for all patients, especially in infants of color who often experience a missed or delayed diagnosis.
The CF Foundation’s Newborn Screening Initiative
Now in its second year, the Foundation’s Newborn Screening Initiative is assessing the newborn screening process to achieve nationwide better (or best) practices to improve health outcomes for all people living with cystic fibrosis. As part of the initiative, the Foundation will publish a set of best practice guidelines to support screening improvements across the country and target select states to advocate for changes based on the guidelines.
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