|
Testimony - Newborn Screening Maternal and Child
Health Bureau 3/11/05 To
Whom It May Concern: We
are writing in response to the request from HRSA regarding public comments
concerning newborn screening. Family
Voices is a national network on behalf of children with special healthcare
needs and our NJ Chapter is housed at the Statewide Parent Advocacy
Network, NJ’s federally funded Parent Training and Information Center.
In addition, SPAN is the Family-to-Family Health Information Center
for the state. We strongly
support the concept of a uniform condition panel for newborn screening
programs. Discrepancies in availability of testing exist not only
between difference states but even within states as found in our NJ
Newborn Screening Advisory Panel. The
panel requested that the following conditions be added to NJ screenings:
Biotinidase deficiency; Congenital adrenal hyperplasia; Fatty acid
oxidation disorders; Maple syrup urine disease; Citrullinemia and
arginosuccinic academia; and Cystic fibrosis.
In addition, the panel recommended the following disorders be
included in ongoing review for consideration of future inclusion:
LCHAD, organic acidemias, tyrosinemia, homocystinemia and arginase
deficiency. Our state panel did not recommend the addition of G-6PD
Deficiency or Toxoplasmosis. A
complete copy of the report including decision rationale for inclusion,
future consideration, or exclusion of specific tests can be found at http://www.state.nj.us/health/fhs/nbs2000/report.htm.
The NJ panel found that “tandem mass spectrometry and DNA-based
tests offer the possibility of screening for additional disorders” more
easily than in the past. The screening needs to be equally accessible to all families
regardless of geographic location. The
American Academy of Pediatrics Newborn Screening Task Force urged national
uniformity in newborn screening. Other
national reports (National Academy of Science, Institute of Medicine
Report, and the Task Force on Genetic Testing) documented the need for
quality control, evaluation of effectiveness, and improving outcomes which
support the findings and recommendations of the American College of
Medical Genetics (ACMG) report. There
should be minimum state standards developed using model programs as
examples along with national oversight.
Thank you for the opportunity to comment on the continuing
development of newborn screening.
Sincerely, Lauren Agoratus-parent NJ Coordinator Family Voices at the Statewide Parent Advocacy Network 35 Halsey St., 4th Fl. Newark, N.J. 07102 (800) 654-SPAN ext. 110 email familyvoices@spannj.org website www.spannj.org BACK |