Lab Matters Summer 2016 | Page 21

newborn screening

by Laura Russell , MPH , specialist , Newborn Screening and Genetics

The APHL Molecular Subcommittee is supporting state newborn screening ( NBS ) programs to identify needs and develop guidance for the responsible integration of next generation sequencing into screening .

NBS Molecular Subcommittee

The Molecular Subcommittee , which works in partnership with the CDC Molecular Quality Improvement Program ( MQIP ), provides a dedicated forum for discussion of molecular methods , quality improvements and educational resources to enhance laboratory performance . The subcommittee also collaborates with stakeholder groups to enhance molecular screening through the use of relevant molecular tests .

The use of next generation sequencing to screen for NBS disorders is relatively new . To address the utility of DNA sequencing for NBS disorders and potential barriers to their implementation , the Molecular Subcommittee is pursuing several related projects .

Upcoming Subcommittee Activities

In August 2016 , the subcommittee will field a survey to evaluate the status of molecular testing in NBS , assess plans for expanding molecular testing to other NBS disorders and document barriers to testing . When this survey was conducted in 2010 , few states had integrated DNA sequencing into screening although 14 programs were planning to expand molecular testing soon . Programs reported that the top three barriers to implementation of molecular testing were a shortage of laboratory space , a need for personnel with expertise in molecular testing and equipment costs . A comparison of the 2010 and 2016 survey results will inform development of training , quality assurance and other materials for newborn screening laboratories .

In addition , the subcommittee will publish two whitepapers later in 2016 . One will focus on the integration of sequencing analysis into NBS programs , highlight resources for future development and define evaluation and implementation considerations to attain ideal health outcomes for infants screened . The other will examine the impact of genomic tools on population-based NBS .

A meeting on gene sequencing is being planned for the winter of 2017 , for stakeholders , federal partners , and state NBS program laboratory and follow up staff . The meeting aims to clearly distinguish between whole genome sequencing and the use of targeted gene panels . Whole genome sequencing , as applied to NBS , identifies all DNA sequences in a given DNA sample , allowing for the identification of unknown disease causing mutations for NBS disorders . Targeted sequencing uses gene panels with known pathogenic mutations to screen for NBS disorders in a given sample .

The upcoming meeting will also consider the status of sequencing for NBS disorders , requirements for states to implement next generation sequencing and resources available . State NBS programs will have the opportunity to discuss barriers and solutions to testing and to build relationships that will strengthen collaboration in monitoring NBS gene / mutation incidence . APHL will document the needs identified during the meeting and collaborate with CDC MQIP to develop resources to integrate next generation sequencing into training and resources .