Gaps in Research

The Secretary’s Advisory Committee on Heritable Disorders of Newborns and Children (SACHDNC) was chartered in February 2003 to advise the Secretary regarding the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders.

SACHDNC assists the Secretary, U.S. Department of Health and Human Services, specifically by providing:

  • advice and recommendations concerning the grants and projects authorized under the Heritable Disorders Program;
  • technical information to develop policies and priorities for this program that will enhance the ability of the State and local health agencies to provide for newborn and child screening, counseling and health care services for newborns and children having or at risk for heritable disorders; and
  • recommendations, advice or information that may be necessary to enhance, expand or improve the ability of the Secretary to reduce the mortality or morbidity in newborns and children from heritable disorders.

As conditions are brought forth for review by the Committee, gaps in evidence and apparent research needs have been identified. The table below lists the conditions brought for review and the decisions made by the committee. This table represents areas ripe for research projects in the field of newborn screening.

Condition

DACHDNC Decision

Date of Decision

Details

Adrenoleukodystrophy      (X-ALD)
Icon indicating approvedApproved to the RUSP by the Secretary of Health in February 2016
September 2015
Issues Identified by Evidence Review if Neither Approved nor Denied

No issues identified

Mucopolysaccharidosis Type 1 (MPS 1)
Icon indicating approvedApproved to the RUSP by the Secretary of Health in February 2016
April 2015
Issues Identified by Evidence Review if Neither Approved nor Denied

No issues identified

Fabry Disease
Icon indicating reviewed, not approvedReviewed; Not Approved
August 2008
Issues Identified by Evidence Review if Neither Approved nor Denied
  • Variable and possible late onset (>10 years) of the disease
  • Unclear if those at highest risk of serious symptoms can be discerned in newborns
  • Lack of published data of preventive treatment early in life
  • Some risk of immunologic response to enzyme replacement therapy
  • Need for a prospective study of screening and therapeutic intervention to demonstrate the benefit of newborn screening for Fabry Disease
Pompe Disease
Icon indicating approvedApproved to the RUSP by the Secretary of Health in March 2015
June 2013
Issues Identified by Evidence Review if Neither Approved nor Denied
  • Pilot study in a US population
  • Using a technology likely to be employed in the US (e.g. MS/MS)
  • DACHDNC's recommendation has been referred to the Interagency Coordinating Center on Newborn and Child Screening (ICC) for additional review and imput \
Niemann-Pick Disease
Icon indicating reviewed, not approvedReviewed; Not Approved
October 2008
Issues Identified by Evidence Review if Neither Approved nor Denied
  • No population- based data is available, although some clinical studies derived from major referral centers are reported
  • Discerning type A from B is not always possible to help predict the phenotypic range of those children who will be identified through population-based screening
  • Characteristics of the screening test(s) are unknown since no population- based assessments have been performed
  • No published studies are available to show the efficacy of treatment in humans especially for those most likely to benefit early in life, although clinical trials are underway
  • No FDA approved treatment currently exists
  • Need for pilot studies of the newborn screening test and treatment protocols
Spinal Muscular Atrophy
Icon indicating approvedApproved to the RUSP by the Secretary of Health in February 2018
February 2018
Issues Identified by Evidence Review if Neither Approved nor Denied
  • Implementation of prospective pilot studies of the screening method by one or more traditional public health laboratories to test the reproducibility of the preliminary findings by Dr. Thomas Prior’s laboratory at the Ohio State University
Early Infantile Krabbe Disease (EIKD)
Icon indicating reviewed, not approvedReviewed; Not Approved
September 2009
Issues Identified by Evidence Review if Neither Approved nor Denied
  • EIKD, The Condition: need consensus about the case definition of what constitutes Early Infantile Krabbe Disease (EIKD)
  • Test for EIKD, Screening and Diagnosis: there is a need for additional information about the testing algorithm for EIKD. It is important to ascertain whether testing for Krabbe disease would be a stand alone test or done with multiplex testing, in part because of the cost implications
  • Treatment for EIKD: More information is needed about the specific benefits of Hematopoietic Stem Cell Transplant (HSCT) to treat patients and what mutations would benefit most from HSCT
Severe Combined Immunodeficiency (SCID)
Icon indicating approvedApproved to the RUSP by the Secretary of Health in February 2010
January 2010
Issues Identified by Evidence Review if Neither Approved nor Denied

No issues identified

Hemoglobin H disease
Icon indicating not approvedReviewed; Not Approved
May 2010
Issues Identified by Evidence Review if Neither Approved nor Denied
  • What proportion of children would benefit from condition-specific treatment? There is a lack of follow-up data on screen positive children.
  • What is the variation in prevalence across the United States?
  • Does early identification improve the health of identified children?
  • What is the threshold for moving a target from secondary status to one of the core targets?
  • In terms of infrastructure, what are the expectations for newborn screening laboratories, public health clinicians, and families if there is a move from secondary to a primary target?
Critical Congenital Heart Disease (CCHD)
Icon indicating approvedApproved to the RUSP by the Secretary of Health in September 2011
September 2010
Additional Post-Market Needs if Approved

SACHDNC recommends the addition of screening for CCHD to the recommended uniform screening panel with the understanding that the following activities will also take place in a timely manner:

  1. The National Institutes of Health shall fund research activities to determine the relationships among the screening technology, diagnostic processes, care provided, and the health outcomes of affected newborns with CCHD as a result of prospective newborn screening;
  2. The Centers for Disease Control and Prevention shall fund surveillance activities to monitor disease link to infant mortality and other health outcomes;
  3. The Health Resources and Services Administration shall guide the development of screening standards and infrastructure needed for the implementation of a public health approach to point of service screening for CCHD;
  4. The Health Resources and Services Administration shall fund the development of, in collaboration with public health and health care professional organizations and families, appropriate education and training materials for families and public health and health care professionals relevant to the screening and treatment of CCHD.
Hyperbilirubinemia/
Kernicterus
Icon indicating reviewedReviewed
Pending (May 2011)
Issues Identified by Evidence Review if Neither Approved nor Denied

No issues identified