has been a month of spring flooding for the
mid-section of our country, as the Mississippi
River proves again that Nature has surprises for
us. Here in the Mountain
States, we're waiting for the melt of the heavy
snow pack that delighted winter skiers. At MSGRCC,
we feel something like the recipients of all that
lovely spring water - we're refreshed by new
resources and challenged to make the most of what
the month of May, MSGRCC staff attended the May
5-6 meeting of the Secretary's Advisory Committee
on Heritable Disorders in Newborns and Children
(SACHDNC) in Washington, DC.
SACHDNC has been reviewing evidence for
addition of critical cyanotic congenital heart
disease (CCCHD) and hyperbilirubinemia to the
recommended panel for newborn
screening. At this meeting,
SACHDNC received a response from Health and Human
Services Secretary Kathleen Sebelius to their
October 15, 2010 recommendation that CCCHD be
added to the recommended panel.
In their recommendation, SACHDNC noted
evidence gaps and therefore also recommended
activities by NIH, CDC and HRSA to address those
gaps. In her response,
Secretary Sebelius concluded that the SACHDNC
recommendation is not ready for
adoption. Instead, the SACHDNC
recommendation was referred to the newly
established Interagency Coordinating Committee on
Newborn and Child Screening (ICC) for additional
review and input regarding
implementation. The ICC
includes membership from the NIH, CDC, HRSA, the
Agency for Healthcare Research and Quality (AHRQ),
and the FDA. The ICC leadership
will examine the evidence gaps and propose a plan
of action to the Secretary within 90 days.
at SACHDNC, evidence for addition of
hyperbilirubinemia to the recommended panel was
reviewed. It was noted that
indirect evidence links a reduction in
hyperbilirubinemia to reduced incidence of
kernicterus (chronic bilirubin encephalopathy),
but the incremental benefit of adding newborn
screening to current practice is not
known. The committee concluded
that additional work by the evidence review
committee, including developing a decision tree
model for the screening, should be done before a
recommendation is considered.
SACHDNC also reviewed state pilots of
implementation of newborn screening for severe
combined immunodeficiency (SCID).
Currently, there are pilots in California,
Louisiana, Massachusetts, New York, Puerto Rico,
Wisconsin, and on the Navajo Reservation in
Arizona and New Mexico. In our
region, Texas is submitting samples to the
Massachusetts pilot. Since 2001
and through these pilots, 914,000 babies have been
screened for SCID. Of those, 12
have been identified with classical SCID
(incidence of 1/76,000), seven with a SCID variant
(incidence of 1/130,000), and 55 with non-SCID
immunodeficiency (incidence of
1/126,000). Early findings show
that incidence is generally higher than expected,
but also variable among states.
The Centers for Disease Control and
Prevention has also implemented a quality
assurance program with reference materials for
laboratory testing, and since April 2011,
participants are seeing very high analytic
validity and specificity.
Finally, a new data portal for SCID has
been developed through the Newborn Screening
Translational Research Network (NBSTRN) and
deidentified data are being submitted.
staff is finalizing arrangements for our annual
meeting July 12-14 in Denver.
Our keynote speaker, Meg Comeau from the
Catalyst Center at Boston University, will speak
about the Affordable Care Act and its impact on
children with special health care
needs. Dr. Rodney Howell, chair
of the SACHDNC, will also present on recent
activities supported by the SACHDNC.
Click here for the
Annual Meeting agenda and to find registration
we prepare for summer activities, we hope you will
continue to let us know how MSGRCC can help you in
your efforts to improve access and quality of
services for newborn screening and genetics in
your state and/or neighborhood.
Bring your ideas and issues to the annual
meeting in July. We want to
talk to you about how we can work together even
more closely to meet our common goals.
Kaye, M.D., Ph.D.