Outcomes from the Gene Sequencing Meeting

Transcription

1 Outcomes from the Gene Sequencing Meeting Rachel Lee, PhD, Texas Department of State Health Services Follow Up from the Gene Sequencing Meeting Evening Forum Monday, September 11, 2017 This presentation was supported by Cooperative Agreement # 5NU60OE funded by the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of CDC or the Department of Health and Human Services.

2 Overview The purpose of this meeting was to convene pertinent stakeholders to discuss the current status of gene sequencing in newborn screening, and identify barriers and solutions for the successful incorporation of gene sequencing into newborn screening.

3 Overview (continued) Held February 16-17, 2017 in Atlanta, GA in collaboration with CDC and HRSA Audience: NBS lab directors, follow up managers and pertinent stakeholders

4 Meeting Outline Session One: Current Status of Gene Sequencing in NBS Session Two: What Does the NBS Program Need to Make this Happen? Session Three: Experience from Lab and Follow Up

5 Does Sequencing Add Value? Does it provide benefit to the baby/family? Is the information critical? What disorders should be considered? What are the unintended consequences: VOUS, later disease onset? Cost effectiveness What additional resources/staff are needed?

6 Summary of Key Follow Up Barriers and Solutions Knowledge gaps: interpreting and communicating test results Increase communication between lab and follow up Engage clinicians and other stakeholders Addressing VOUS Create a national NBS mutation database Use of telegentics/mobile technology

7 Summary of Key Follow Up Barriers and Solutions (continued) Need for Long Term Follow Up Consider Title V programs, nurse navigators Lack of resources Utilize regional labs to decrease costs

8 Summary of Key Lab Barriers and Solutions Staff Training Training opportunities available at CDC and other NBS programs High costs: assays, implementation, infrastructure Utilize regional labs Conduct a cost analysis to compare sequencing to other screening technologies/methods

9 Summary of Key Lab Barriers and Solutions (continued) Data interpretation Develop NBS database, use existing databases Selecting the appropriate equipment Consult with other NBS programs Request demos from vendors

10 Outcomes Molecular Subcommittee activities: Gene sequencing decision matrix Engagement with other stakeholders: NBS mutation database Sequencing section on APHL Molecular Resources website: Gene sequencing decision matrix FAQs Sequencing assays in NBS Links to existing mutation databases/other resources

11 Other Available Resources Molecular Training Workshop Co-Sponsored by APHL and CDC Hands-on molecular assay training provided to state newborn screening laboratory staff Upcoming workshop: Spring 2018

12 Other Available Resources Molecular Assessment Program A non-regulatory site visit offered by CDC and APHL that is tailored to newborn screening laboratories performing molecular tests. MAP was developed to assist newborn screening laboratories in determining how to best meet their unique needs using their available resources. Visit aphl.org/mol to learn more.

13 Other Available Resources NewSTEPs New Disorders Implementation Project Peer Network Resource Centers provide technical assistance for MPS I, Pompe and X-ALD New York: 2 nd tier DNA sequence analysis for MPS I and Pompe, third tier for X-ALD; hands-on training workshop Wisconsin: 2 nd tier DNA sequencing for MPS I, Pompe and X-ALD This activity is supported by the Health Resources and Services Administration (HRSA) under grant # UG9MC30369, New Disorders Implementation Project for $4,000,000. This content is those of the authors and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the US Government.

14 CDC Molecular Quality Improvement Program Program-tailored guidance for laboratoryspecific needs and help in evaluating ongoing and future molecular testing procedures. Molecular QA Materials Contact: Suzanne Cordovado, PhD,

15 Questions?