Correspondence
Genetic Testing
N Engl J Med 2003; 348:1066-1067March 13, 2003
- Article
To the Editor:
In Burke's review of genetic testing (Dec. 5 issue),1 Tables 1 and 2 offer examples of genetic tests. The tables are intended to be illustrative, not exhaustive, and most entries are based on information from GeneTests–GeneClinics at http://www.geneclinics.org. According to the author, this Web site contains a comprehensive and continually updated listing of available genetic tests. To our surprise, a search on this Web site for hereditary pancreatitis (Online Mendelian Inheritance in Man [OMIM] number 167800) failed.
Hereditary pancreatitis follows an autosomal dominant pattern of inheritance with 80 percent penetrance and is associated with mutations in the cationic trypsinogen gene (PRSS1, OMIM number 276000).2 The disorder is characterized by multiple episodes of acute pancreatitis and the development of chronic pancreatitis, and the risk of pancreatic cancer is increased by a factor of more than 50.3 Genetic testing is recommended in cases with recurrent (unexplained) acute pancreatitis, unexplained chronic pancreatitis, or a family history of pancreatitis in a first-degree or second-degree relative. In our opinion, genetic tests for hereditary pancreatitis should therefore be listed on the Web site.
3 ReferencesB.W. Marcel Spanier, M.D.
Marco J. Bruno, M.D., Ph.D.
Academic Medical Center, 1105 AZ Amsterdam, the Netherlands
b.w. spanier@amc. uva. nl 1
Burke W . Genetic testing. N Engl J Med 2002;347:1867-1875
Full Text | Web of Science | Medline2
Whitcomb DC ,Gorry MC ,Preston RA , et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-145
CrossRef | Web of Science | Medline3
Lowenfels A ,Maisonneuve P ,DiMagno EP , et al. Hereditary pancreatitis and the risk of pancreatic cancer. J Natl Cancer Inst 1997;89:442-446
CrossRef | Web of Science | Medline
Author/Editor Response
The current pace of genetic research will produce many new genetic tests. Given this changing environment, clinicians need sources of information that provide comprehensive and unbiased information about genetic testing. It is a challenge to develop and maintain such data bases, because they require contributions from experts with diverse expertise, sophisticated search mechanisms, and a commitment to regular updating. We believe the publicly funded GeneTests–GeneClinics Web site is the best current source of information about genetic testing and one that will be of increasing value to clinicians as more genetic tests become available. For this reason, it was cited as a source in the review article.
Drs. Spanier and Bruno express concern about the completeness of this Web resource, because they did not locate information about genetic tests for hereditary pancreatitis when they searched for it. However, several tests for hereditary pancreatitis are listed in the “Laboratory Directory” section of the Web site. Drs. Spanier and Bruno may have initiated their search in the GeneReviews section of the Web site; if so, they received a “failed search” message, reflecting the lack of an expert review on hereditary pancreatitis. Although the Web site has the long-term goal of providing detailed expert reviews (GeneReviews) for all genetic conditions of clinical interest, this goal has not yet been reached. Nevertheless, the screen indicating that the search had failed also offered the opportunity to search the Laboratory Directory, where tests for hereditary pancreatitis are listed. In addition, the Laboratory Directory can be reached from the home page of the Web site.
The comments by Drs. Spanier and Bruno are in keeping with other feedback indicating that the search mechanisms for GeneTests–GeneClinics could be improved. Changes have been instituted, and visitors to the site should find genetic testing information easier to locate as a result.
Wylie Burke, M.D., Ph.D.
Roberta A. Pagon, M.D.
University of Washington, Seattle, WA 98195-7120
wburke@u.washington. edu
