Newborn Screening: Toward a Uniform Screening Panel and System
> Report for Public Comment
Federal Register:
March 8, 2005 (Volume 70, Number 44)
Request for
Public Comment on a HRSA Commissioned Report: Newborn Screening: Toward
a Uniform Screening Panel and System
SUMMARY:
The changing dynamics of emerging technology, and the complexity of genetics
require an assessment of the state of the art in newborn screening and
a perspective on the future directions such programs should take.
In 1999, the American
Academy of Pediatrics Newborn Screening Task Force recommended that ``HRSA
should engage in a national process involving government, professionals,
and consumers to advance the recommendations of this Task Force and assist
in the development and implementation of nationally recognized newborn
screening system standards and policies.''
In response to this
need, pursuant to 42 U.S.C. 701(a)(2), the Maternal and Child Health Bureau
(MCHB) of HRSA commissioned the American College of Medical Genetics (ACMG)
to conduct an analysis of the scientific literature on the effectiveness
of newborn screening and gather expert opinion to delineate the best evidence
for screening specified conditions and develop recommendations focused
on newborn screening, including but not limited to the development of
a uniform condition panel. It was expected that the analytical endeavor
and subsequent recommendations be based on the best scientific evidence
and analysis of that evidence. ACMG was specifically asked to develop
recommendations to address:
- A uniform condition
panel (including implementation methodology); Model policies and procedures
for State newborn screening programs (with consideration of a national
model);
- Model minimum
standards for State newborn screening
programs (with consideration of national oversight);
- A model decision
matrix for consideration of State newborn
screening program expansion; and
- The value of a
national process for quality assurance and
oversight.
The ACMG report is
a response to the HRSA/MCHB request. The ACMG report, Newborn Screening:
Toward a Uniform Screening Panel and System is available at http://mchb.hrsa.gov/screening.
In the report, 29
conditions were identified as primary targets or core panel conditions
for screening; an additional 25 conditions were listed as conditions that
could be identified in the course of screening for core panel conditions.
Many of these 25 additional conditions are included in the differential
diagnosis of the conditions including in the primary target list. With
additional screening, an improvement in the infrastructure for appropriate
follow-up and management throughout the lives of children who have been
identified as having one of these rare conditions will be needed. A cost
analysis for the State of California indicates newborn screening is beneficial
to patients and may have some net costs or net savings over time depending
on assumptions of expected lifetime costs of medical care. HRSA is now
seeking public comments on the report and its recommendations.
DATES:
The public is encouraged to submit written comments on the report and
its recommendations within 60 days of publication of this Federal Register
notice.
ADDRESSES:
The following mailing address should be used:
Maternal and Child
Health Bureau
Health Resources and Services Administration
5600 Fishers Lane
Parklawn Building, 18A-19
Rockville, MD 20857
HRSA/ MCHB's facsimile
number is 301-443-8604. Comments can also be sent via e-mail to screening@hrsa.hhs.gov.
All public comments received will be available for public inspection at
MCHB/HRSA's office between the hours of 8:30 a.m. and 5 p.m.
FOR FURTHER
INFORMATION CONTACT: Questions about this request for public
comment can be directed to Dr. Michele Lloyd-Puryear, MD, PhD, by e-mail
(screening@hrsa.hhs.gov).
The report will be
posted on HRSA/ MCHB's Web site at http://mchb.hrsa.gov/screening.
Dated:
March 2, 2005.
Elizabeth M. Duke,
Administrator.
|