The Use and Interpretation of CommercialAPCGene Testing for Familial Adenomatous Polyposis

Abstract

Patients who underwent genetic tests for familial adenomatous polyposis often received inadequate counseling and would have been given incorrectly interpreted results. Physicians should be prepared to offer genetic counseling if they order genetic tests.

False‐negative factor V Leiden genetic testing in a patient with recurrent deep venous thrombosis

“…Error is also reported for the 20210G?A prothrombin gene mutation [6,7]. False-negative genetic testing has been found with other genetic diseases, such as familial adenomatous polyposis involving the APC gene [8].…”

Teaching clinical management skills for genetic testing of hereditary nonpolyposis colorectal cancer using a Web-based tutorial

“…Our study identified weaknesses in areas of clinical management that have been identified in larger surveys of physicians' knowledge of genetic testing, particularly understanding the limitations of negative genetic test results. 13,14 It is important to note that knowledge that an affected family member should be tested first (one of the basic tenets of genetic testing) was lacking in half of respondents on the pretest, but improved dramatically to nearly 100% on the post-test. With few exceptions, after our tutorial the percent correct responses in all skill domains we assessed improved.…”

“…Consequently, deficits in physicians' knowledge of genetics have been demonstrated in various studies. [13][14][15] Batra et al 14 surveyed gastroenterologists practicing in New York State regarding their knowledge of genetic testing and genetic counseling for CRC. Of the 285 physicians who responded, 66% were unaware of genetic testing for HNPCC, 21% could not identify a pedigree consistent with a diagnosis of HNPCC, 74% were unaware of the limitations of genetic testing, and 84% were unaware of cancer surveillance guidelines for individuals with HNPCC.…”

Surgical treatment of familial adenomatous polyposis: ileoretal anastomosis or restorative proctolectomy?

“…The classical syndrome is an autosomic hereditary disease caused by a germinative mutation in the APC gene (adenomatous polyposis coli), located on the long arm of chromosome 5q21, which confers a dominant character to the syndrome, although 20% of patients do not exhibit familiar history (5,10,11,22) .…”