HUM-MOLGEN archive: DIAG: re: "the future of genetic newborn screening"

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 1 submessage(s): 1) RE: DIAG: "the future of genetic newborn screening" 2) 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