Lab Matters Summer 2018 | Page 26

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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