HUM-MOLGEN archive: DIAG: Neuroacanthocytosis/Accuracy in mol. gen. tests

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 2 submessage(s): 1) Neuroacanthocytosis 2) Accuracy in genetics molecular tests Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** NEUROACANTHOCYTOSIS patients sought for molecular genetic study Scientists at the Wellcome Trust Centre for Human Genetics in Oxford have initiated an international collaborative effort to collect families with neuroacanthocytosis, both X-linked (McLeod syndrome) and non-X-linked, for a systematic molecular study. Blood or DNA samples from patients with McLeod syndrome will be tested for mutations in XK, the Xp21.1 gene responsible, for a genotype-phenotype correlation. Patients and families with non-X-linked neuroacanthocytosis will be studied in a genome-wide search for linkage. For further information please contact Dr. A.P. Monaco at anthony.monaco@well.ox.ac.uk or Dr. A. Danek at danek@brain.nefo.med.uni-muenchen.de. ************************************************************** ************************************************************** At the upcoming Eurpean Society for Human Genetics meeting, we are hoping to organise a forum or discussion concerning quality control issues for Clinical molecular Genetics testing. It would be very helpful if interested parties could let me know if they would like to attend and/or contribute to the debate. I will post more details soon. Best Graham R Taylor from GR Taylor PhD MRCPath Head of Laboratory Regional Clinical Molecular Genetics Lab St James's University Hospital Leeds LS9 7TF 'phone 113 283 7084 fax 113 267 7090 email gtaylor@hgmp.mrc.ac.uk ***************************************************************************** ***** Headline: Doctors debate genetic tests accuracy Wire Service: UPce (UPI Central US) Date: Fri, Oct 27, 1995 MINNEAPOLIS, Oct. 27 (UPI) -- Genetic testing for maladies such as Alzheimer's disease have yet to prove their accuracy, a prominent medical geneticist Thursday told a conference of about 600 of his colleagues. Dr. Neil Holtzman of Johns Hopkins Medical School, speaking during the annual convention of American Society of Human Genetics in Minneapolis, said the lack of standardized procedures and cross-checks between laboratories reduce the value of DNA tests as medical tools. Holtzman and others at the conference said DNA tests are being marketed to the public for their accuracy, even though false results still are common. The absence of effective treatment for some diseases now being identified through the tests also is a potential problem, the researchers said. Holtzman said despite the growing use of DNA tests to predict the likelihood of disease, they should be only considered as "investigational." He said results of genetic testing should not be relied upon unless doctors have some other test to support those initial results. Copyright 1995 The United Press International