Clinical Chemistry
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 49: 1717-1725, 2003; 10.1373/49.10.1717
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Web of Science (7)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Van Deerlin, V. M.
Right arrow Articles by Lee, V. M-Y.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Van Deerlin, V. M.
Right arrow Articles by Lee, V. M-Y.
Related Collections
Right arrow Molecular Diagnostics and Genetics
Right arrow Oak Ridge Conference
(Clinical Chemistry. 2003;49:1717-1725.)
© 2003 American Association for Clinical Chemistry, Inc.

Oak Ridge Conference

Familial Frontotemporal Dementia: From Gene Discovery to Clinical Molecular Diagnostics

Vivianna M. Van Deerlina,1, Lisa H. Gill1, Jennifer M. Farmer1, John Q. Trojanowski1 and Virginia M-Y. Lee1

1 Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA 19104.

aAddress correspondence to this author at: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 7.103 Founders Pavilion, 3400 Spruce St., Philadelphia, PA 19104. Fax 215-662-7529; e-mail vivianna{at}mail.med.upenn.edu.


Abstract

Genetic testing is important for diagnosis and prediction of many diseases. The development of a clinical genetic test can be rapid for common disorders, but for rare genetic disorders this process can take years, if it occurs at all. We review the path from gene discovery to development of a clinical genetic test, using frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) as an example of a complex, rare genetic condition. An Institutional Review Board-approved multidisciplinary research program was developed to identify patients with familial frontotemporal dementia. Genetic counseling is provided and DNA obtained to identify mutations associated with FTDP-17. In some cases it may be appropriate for individuals to be given the opportunity to learn information from the research study to prevent unnecessary diagnostic studies or the utilization of inappropriate therapies, and to make predictive testing possible. Mutations identified in a research laboratory must be confirmed in a clinical laboratory to be used clinically. To facilitate the development of clinical genetic testing for a rare disorder, it is useful for a research laboratory to partner with a clinical laboratory. Most clinical molecular assays are developed in research laboratories and must be properly validated. We conclude that the transition of genetic testing for rare diseases from the research laboratory to the clinical laboratory requires a validation process that maintains the quality-control elements necessary for genetic testing but is flexible enough to permit testing to be developed for the benefit of patients and families.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2003 by the American Association for Clinical Chemistry.