Tarius SAC Tracker®


Background Analysis: US HHS Advisory Committee to Discuss Topics Related to Newborn Screening – MAY 9-10, 2018 (ACHDNC)


The US Department of Health and Human Services (HHS) has scheduled an Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) meeting for Wednesday to Thursday, May 9-10, 2018. The meeting will address several topics related to heritable disorders and newborn screening.

Agenda and Background

Newborn Screening Education and Training Tools

The Committee will discuss the next steps for a primary care physician (PCP) communication tool and educational planning guide, which has been developed by the Education and Training Workgroup and adopted by the Committee. 

Update on Newborn Screening Pilot Studies for Guanidinoacetate Methyltransferase (GAMT) Deficiency

In the November 3-4, 2016 meeting of the ACHDNC, a majority of the Committee, 9 of 15 members, voted against referring GAMT deficiency to a full evidence review for addition to the Recommended Uniform Screening Panel (RUSP). The Nomination and Prioritization Workgroup (NPW) had recommended against referring GAMT to a full evidence review, based on the following two conclusions: 1. No case has been identified prospectively through newborn screening (NBS); and 2. Treatment guidelines, while they appear to be in development, are not finalized. The Committee supported the NPW’s recommendation, which was proponents of adding GAMT to the RUSP to work with experts to formalize treatment guidelines, for continuation of NBS for GAMT deficiency in Utah and Australia, and for reporting as soon as a patient is identified prospectively. In the upcoming May 9-10 meeting, the Committee will hear an update on the NBS pilot studies for GAMT.

Workgroup Updates          

Representatives of the following ACHDNC workgroups will present progress reports on their respective projects:

·         Education and Training Workgroup

·         Follow Up and Treatment Workgroup          

·         Laboratory Standards and Procedures Workgroup

Review of the Committee’s Process for Assessing the Public Health Impact of Adding Conditions to the RUSP

The ACHDNC will continue their discussion of the public health impact of adding conditions to the RUSP. In November 8-9, 2017, the Committee heard presentations by Sikha Singh, of the Association of Public Health Laboratories, Adrienne Manning of the Connecticut Department of Public Health, and Dr. Lisa Kobrynski of the Emory University School of Medicine, who discussed the topic, using Severe combined immunodeficiency (SCID) screening as an example.

They summarized the following areas of ongoing opportunities and challenges:

·         Policy – legislative mandates, fee increases, and insurance coverage, or lack of coverage.

·         Testing – the complexity of molecular methods, the need to hire and train staff, development of new assays, and the pressure to meet timeliness goals.

·         Follow-up – the interpretation of results, communication between NBS programs and clinicians, and the challenges with providing short- and long-term follow-up for a wide range of disorders.

·         Education – education to providers and to parents, and the need for national guidelines in this area.

Other topics for this meeting include discussion of CDC (US Centers for Disease Control and Prevention) quality assurance and harmonization activities; cutoffs and risk assessment in NBS; and lessons learned from the States on timeliness in NBS.

What’s Next?

Tarius will send a Results Wire soon after the meeting. This report will include the voting outcomes, if applicable, and key outcomes of the discussion.

METADATA: Sponsor: none Drug Name: none Drug Class: none Indication: none

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