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.