The Long-Term Follow-Up Cares and Check Initiative (LTFU Cares & Check) enables newborn screening programs, patients, families, and clinicians to work together to ensure that individuals with a genetic disease identified through newborn screening achieve the best possible outcome.
What is NBS?
Newborn screening (NBS) is a multi-component, multi-stakeholder system that begins with prenatal education, neonatal screening in birthing hospitals and state-based NBS laboratories, diagnosis and clinical care, and longitudinal medical management.
All components of this system are necessary to ensure newborns with genetic conditions achieve the best possible outcome.
What is LTFU?
Long-term follow-up (LTFU) refers to both the care coordination through a medical home that a newborn receives after a condition is diagnosed, as well as the longitudinal collection of health information to inform health outcomes. LTFU that supports screening, counseling, and service delivery to individuals diagnosed with a condition through newborn screening (NBS) has been a goal in the United States for many years.
For both of these definitions, LTFU involves the entire newborn screening community of state NBS programs, clinicians, parents, and families. The LTFU Cares and Check Initiative includes all of these stakeholders with the goal of improving care coordination through a medical home.
Why is LTFU Important?
Newborn screening saves lives and helps to avoid the consequences of disease by facilitating early diagnosis and treatment. However, the majority of the conditions that are part of newborn screening are treatable, but not cureable. Therefore, most newborns diagnosed with a condition through newborn screening require lifelong care and management. A coordinated system of care provided in through a medical home is essential to help each newborn achieve the best possible outcome.
What are the objectives of the LTFU Cares and Check Initiative?
The main goal of our project is to develop a comprehensive LTFU model system, which consists of three main tools:
LTFU-Cares:
LTFU Data Collection for Clinicians and Newborn Screening Programs.
LTFU-Check:
LTFU Monitoring, Assessment, and Reporting for State Newborn Screening Programs.
LTFU-Cares Dashboard:
LTFU Data Visualization for Clinicians and State Newborn Screening Programs.
Resources:
Educational resources for the newborn screening community.
The Focus of LTFU-Cares and Check is SMA
The initial focus of the LTFU-Cares and Check Initiative is on newborns identified with spinal muscular atrophy (SMA) through newborn screening. We welcome input from subject matter experts and advocacy groups such as Cure SMA
Who can participate in this project?
To ensure our LTFU system is addressing the needs of a wide range of stakeholders, we welcome participation from families, adults living with a newborn screening condition, clinicians caring for individuals with a newborn screening condition, and newborn screening programs.
To do so, we will obtain feedback from representatives of different players in NBS throughout the including design, assessment, and implementation phases. To assess the functionality and usefulness of the system, we will focus on one condition. Our use case is spinal muscular atrophy (SMA). We welcome input from subject matter experts and advocacy groups such as Cure SMA.
Please contact Dr. Amy Brower at abrower@acmg.net if you are interested in participating.