ABOUT THE GRANT
Cystic Fibrosis (CF) is a life-limiting autosomal recessive disease that leads to progressive lung disease and malnutrition, with symptoms
manifesting in infancy. Since 2010, newborn screening (NBS) for CF has been implemented in all U.S. states, allowing for earlier diagnosis
and better outcomes. However, delays in diagnostic follow-up after a positive NBS result remain prevalent, particularly among infants from
racially and ethnically minoritized populations. These delays are linked to poorer early nutritional status and may indicate disparities in access
to care, knowledge gaps among primary care providers, and the limitations of current screening panels, which often miss variants that are
more common in non-white populations.
Analysis of the Cystic Fibrosis Foundation Patient Registry (CFFPR) indicates that nearly one-quarter of infants undergo confirmatory CF testing
after 30 days of life, and many present with undernutrition. Furthermore, qualitative studies reveal that primary care providers may be reluctant
to refer certain infants due to outdated assumptions about CF prevalence by race. Additionally, available screening panels detect significantly
fewer CFTR variants in Black, Hispanic, and Asian infants, resulting in increased rates of false negatives.
The C-CARE CF research project aims to address these critical gaps by (1) assessing general parental knowledge of CF and NBS through
a national survey, (2) collecting detailed diagnostic experiences from diverse parents of children with CF, (3) utilizing these insights to
develop and test a public awareness campaign, and (4) creating continuing medical education (CME) materials for primary care clinicians to
enhance the timeliness and equity of CF diagnosis. Survey results will inform messaging and provider education focused on reducing delays
and ensuring that all infants with CF, regardless of race or ethnicity, receive early, appropriate care.
The project will directly impact the accuracy and timeliness of CF diagnosis, support education for both the public and clinicians, and
advance the mission of equitable early detection through newborn screening.
RESULTS & RESOURCES
- Pediatric Pulmonology: The Newborn Screening Experience of Caregivers of Children With Cystic Fibrosis in the United States: A Cross‐Sectional Survey
- Press Release: Lurie Children’s Campaign Urges Parents to Follow Up Right Away if Newborn Screening Results are Abnormal
- What Parents Need to Know About Newborn Screening
ABOUT SUSANNA MCCOLLEY
Susanna A. McColley, MD, FAAP, ATSF, is a pediatric pulmonologist and internationally recognized authority in cystic fibrosis (CF) newborn screening. She serves as Scientific Director for Interdisciplinary Research Partnerships at the Stanley Manne Children’s Research Institute, Professor of Pediatrics at Northwestern University Feinberg School of Medicine, and Contact Principal Investigator of the National Center for Advancing Translational Science funded T32 Enhancing TRanslational science to Accelerate Impact of New innovations (E-TRAIN) program at the Northwestern University Clinical and Translational Sciences Institute.
Dr. McColley’s research has been pivotal in advancing the understanding and implementation of CF newborn screening in the United States. As Vice Chair of the Cystic Fibrosis Foundation Newborn Screening Consortium and a member of the European Cystic Fibrosis Society Newborn Screening Working Group, she has significantly contributed to evaluating outcomes of CF newborn screening and developing and promoting best practices for early diagnosis of CF. She was a co-senior author of the first U.S. guidelines for CF newborn screening, which aim to improve the timeliness and equity of diagnosis across all racial and ethnic groups by recommending broader genetic panels, enhanced communication protocols between healthcare providers, and stronger clinician-family partnerships.
Dr. McColley’s Rosenau Family Research Foundation-funded work has advanced understanding of parent experiences with cystic fibrosis (CF) newborn screening, pediatric physician education, and public awareness. Her national survey research reveals that many parents/ caregiver encounter delays and receive insufficient information after a positive CF newborn screening test. She has led development of education for pediatricians to promote understanding, effective communication of results, and recognition that CF affects infants of all backgrounds. Public-facing educational efforts promote awareness of newborn screening and include English and Spanish language materials that raise awareness of newborn screening that are available at no cost to all health care providers, health care and public health systems.