newborn screening
NewSTEPs Hosts Newborn Screening National Meetings
By Erin Darby, MPH, MCHES, specialist, Newborn Screening and Genetics and Kshea Hale, MPH, specialist, Newborn Screening and Genetics
New Disorders Readiness Scale
Phase 1: Authority to Screen Obtain approval and funding from the appropriate institutions
Phase 2: Laboratory Follow-Up and Logistics Identify the screening methodology and ensure infrastructure readiness
Phase 3: Education Educate families, providers and the general public about the disorder and screening process
Phase 4: Full Implementation Conduct pilot testing and implement statewide screening and follow-up for the new disorder
Attendees of the NewSTEPs Short Term Follow Up National Meeting on May 17-18 in Bethesda, MD.
APHL’ s Newborn Screening Technical assistance and Evaluation Program( NewSTEPs) hosted national meetings in May and June, bringing together state newborn screening program staff, clinicians and families to address challenges and successes related to short term follow-up and implementing screening for new disorders.
Short Term Follow-Up National Meeting, May 17-18
Attendees from 40 states, the District of Columbia, Puerto Rico and New Zealand engaged in small-group discussions and skill-building sessions, and attended presentations and discussions on educating parents, providers, hospitals and staff about the processes and goals of short term follow-up. Sessions allowed attendees to focus on the follow-up side of newborn screening and identify a number of related challenges.
Several themes emerged from the meeting: educating staff and stakeholders, continuity of operations and succession planning, and coordinating all elements within the newborn screening system. Based on discussions and attendee feedback, NewSTEPs hopes to develop additional materials to assist states in improving their newborn screening and follow up processes.
What is Short Term Follow-Up?
While the laboratory side of newborn screening tests babies’ dried blood spot specimens for a range of heritable disorders within the first few days of life, the short term follow-up process ensures that all newborns are screened, that an appropriate follow-up caregiver is informed of results, that confirmatory testing has been completed, that the newborn has received a diagnosis and, if necessary, treatment.
New Disorders National Meeting, June 20-21
An activity of the Health Resources and Services Administration( HRSA) funded New Disorders Implementation Project, the second National Meeting on New Disorders provided an opportunity for newborn screening personnel, partners and stakeholders to discuss the screening status of MPS I, Pompe and
X-ALD. Attendees from 38 state newborn screening programs, as well as clinicians, genetic counselors and federal partners, shared tools and resources to prepare to implement screening for these disorders. Building upon the 2017 National New Disorders meeting, the agenda focused on budget and policy considerations, surveillance case definitions and longterm follow-up clinical guidelines for each disorder, in addition to education for staff, clinicians and families. The meeting also featured presentations and discussions from parents of children living with MPS I, Pompe and X-ALD.
Attendees discussed the NewSTEPs New Disorders Readiness Scale. The Readiness Scale is a four-phase tool intended to track progress toward full implementation of screening for a new disorder, as well as provide data to NewSTEPs on how long the different phases and milestones of the implementation process take, how these timelines vary by disorder and program and other variables. The majority of state attendees have reached phase three or four for at least one of the new conditions. As of June 2018, 12 states were implementing full population screening for Pompe, 11 states were screening for MPS I, and 10 states were screening for X-ALD. Feedback from the meeting and other new disorders initiatives will help the NewSTEPs team provide technical assistance to support states in achieving full implementation of newborn screening for new disorders. n
24 LAB MATTERS Summer 2018
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