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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: re: "the future of genetic newborn screening"
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Fri, 11 Aug 1995 13:00:38 MET-DST

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 1 submessage(s):

1)   RE: DIAG: "the future of genetic newborn screening"


  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


At 09:35 AM 8/10/95 MET-DST, you wrote:
>This DIAG message contains  submessage(s):
>1)   The future of newborn screening, From: "Brian Mannix (mmatrix)"
>     <BMannix@AOL.COM> + a comment from the editor

Dear Sir:

There are few comments on this topic:

1) Screening of G6PD mutations in Taiwan:

Currently, we are analyzing the DNA products directly amplified from the
neonatal screening dried blood spot samples by PCR for detecting seven
common southern Chinese G6PD mutations on those samples with positive
neonatal screening results as a confirmatory backup test in Taiwan.  The
method is transferring to Canton (Mainland China), Hong Kong, and Singapore
screening centers.  We have proved that this analysis can detect about
80-90% of G6PD mutant alleles in those areas.  For G6PD deficiency, there is
no need for gene therapy.

2) Apply molecular genetic technology for neonatal screening as a primary
screening test:

In order to apply molecular genetic technology for neonatal screening as a
primary screening test, "all" the mutant alleles in the screened population
have to be resolved and be tested.  This is not the case for most of the
inherited metabolic diseases in different ethnical (or sub-ethnical)
populations.  If we can detect 99% mutant alleles (with how many probes?),
we are still going to have 1% false negative, which may not be better than
those classical technologies used today for routine neonatal screening. =20
The cost will be another consideration to apply the advance molecular
genetic technology as the primary "mass" screening test.  I think that it is
only suitable to be used for high risk cases in the present time.

3) Gene therapy for inherited metabolic diseases:

The long term safety of current gene therapy methods should be weighted
against the traditional treatment methods for inherited metabolic diseases.

Kwang-Jen Hsiao  (=BF=BD =BCs =A4=AF)
Peitou P.O. Box 2-207
Taipei, Taiwan 11216
Republic of China

Tel: 886-2-875-7401           E-mail: hsiao@mail.pmf.org.tw
Fax: 886-2-873-3517                   hsiao@pc2.hinet.net

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