Resources

Learn More About The LTFU-Cares & Check Initiative

REDCap Project Data Dictionary

The REDCap Data Dictionary for the LTFU-Cares and Check Initiative provides a comprehensive framework for collecting and managing data related to long-term follow-up (LTFU) of newborns diagnosed through newborn screening (NBS), with a specific focus on Spinal Muscular Atrophy (SMA). This dictionary outlines the essential data elements, their definitions, and standardized formats, ensuring consistency and reliability in data collection and reporting. The minimal data model is designed to be adaptable for other conditions identified through newborn screening. If you would like to apply this model to other conditions or require access to additional data dictionaries, please contact Amy Brower, PhD, at abrower@acmg.net

REDCap Data Dictionary

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening

Authors: Mei Lietsch, Kee Chan, Jennifer Taylor, Bo Hoon Lee, Emma Ciafaloni, Jennifer M. Kwon, Megan A. Waldrop, Russell J. Butterfield, Geetanjali Rathore, Aravindhan Veerapandiyan, Arya Kapil, Julie A. Parsons, Melissa Gibbons and Amy Bower.

Date: April 18th, 2024

Description: This article outlined the methods for developing and implementing the long-term follow-up model using SMA as a use case.

Long-Term Follow-Up Cares and Check Initiative

The Long-Term Follow-Up Cares and Check Initiative (LTFU-Cares & Check): An Innovative Approach to Caring for Families with SMA

Authors: Jennifer L. Taylor, Kee Chan, Natasha F. Bonhomme, Mei Baker, Jennifer Kwon,Emma Ciafaloni, Mei Lietsch, Ian F. Terry, Sharon F. Terry, Amy Brower

Description: The American College of Medical Genetics and Genomics (ACMG) is developing a model for long-term follow-up (LTFU) care for spinal muscular atrophy (SMA) through a two-year project funded by HRSA. This initiative, called LTFU Cares & Check, aims to support NBS-identified infants by creating a care coordination system involving state public health agencies,clinicians, and families. Using a human-centered approach and stakeholder engagement, the project identified key themes from SMA families to develop tools like LTFU-Cares and LTFU-Check for data tracking and reporting. Initial implementation across six clinical sites in six states showed potential for broad adoption. The project emphasizes understanding health outcomes important to families and aims to ensure the best possible outcomes for newborns with SMA.

Cure SMA Conference June 2022

Supporting Public Health Program Incorporate Newborn Screening Long-Term Follow-Up

Authors: Jennifer Taylor, Jennifer Baysinger, Carol Johnson, Amy Burke, Jennifer Hauser, Jo Ann Bolick, Kee Chan, LaStephanie Barnes, Yekaterina Unnikumaran, Amy Brower

Date: APHL NBS Symposium October 2022

Description: This abstract was presented at the APHL conference in 2022 and discusses a roundtable discussion on long-term follow-up (LTFU) for newborns diagnosed with congenital conditions through the newborn screening (NBS) system. The discussion aimed to provide state NBS programs with a forum to define and standardize LTFU activities, share experiences, and improve outcomes for diagnosed newborns through centralized resources and recommended LTFU practices.

Abstract Final

Supporting Public Health Program Incorporate Newborn Screening Long-Term Follow-Up

Putting Families First: Innovative Approaches of Long-Term Follow-Up Cares and Check Initiative (LTFU-Cares & Check)

Authors: Kee Chan, Natasha F. Bonhomme, Jennifer Taylor, Yekaterina Unnikumaran, Ian F.Terry, Sharon F. Terry, Amy Brower

Date: APHL NBS Symposium October 2022

Description: The presentation focused on the family engagement approach used in the project,emphasizing the importance of involving families in long-term follow-up (LTFU) efforts for newborns diagnosed with congenital conditions. Through this approach, the initiative aims to provide comprehensive and supportive care to affected families, ensuring that their needs and perspectives are central to LTFU practices.

Putting Families First

Advancing Genetic Disease Understanding and Improving Health Outcomes: The LTFU-Cares and LTFU-Check Initiative

Date: ACMG Annual Meeting March 2022

Description: The LTFU-Cares and LTFU-Check Initiative aims to enhance understanding of genetic diseases and improve health outcomes for newborns diagnosed through newborn screening (NBS). Led by the ACMG, this initiative builds on established networks and the Longitudinal Pediatric Data Resource (LPDR) to track and report long-term care. By developing disease-specific care algorithms and a web-based tracking system, the initiative facilitates coordinated care through a medical home. The project also enables the reporting of key metrics,such as the percentage of families receiving specialty care and the number of partnerships developed, to ensure comprehensive and continuous care. This initiative underscores the vital role of medical genetics in NBS and strives to leverage early diagnosis and lifelongmanagement to advance genetic disease understanding and improve clinical outcomes.

ACMG Annual Meeting Poster HRSA Project March 2022