Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology.
OBJECTIVE
Adult gastroenterologists practicing in New York State were surveyed to determine their practice with regard to identifying family histories consistent with inherited forms of colorectal cancer, and to assess their awareness of cancer genetic counseling and molecular genetic testing for familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC).


METHODS
A closed-ended questionnaire was mailed to 815 gastroenterologists identified through the membership Directory of the American Gastroenterological Association (1998). Two mailings resulted in a response rate of 35%.


RESULTS
In all, 99% of the gastroenterologists obtained a family history from their patients, and 95% were aware of cancer genetic counseling. However, only 51% would routinely refer patients for genetic counseling before providing cancer predisposition testing. In addition, only 52% were aware of the availability of genetic tests for FAP and 34% for HNPCC. Presented with a family history consistent with HNPCC, 79% could identify the syndrome, 26% recommended genetic counseling for the consultand, and 16% advised appropriate screening, according to current recommendations.


CONCLUSIONS
The majority of gastroenterologists do obtain a family history on their patients. However, there is a need for physician education regarding the recognition of pedigrees consistent with inherited colorectal cancer, the genetic counseling process, and the availability of mutation testing for FAP and HNPCC.
Batra
Shivani
S
Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA.
Valdimarsdottir
Heiddis
H
McGovern
Margaret
M
Itzkowitz
Steven
S
Brown
Karen
K
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001291:Attitude of Health Personnel; D001364:Awareness; D002983:Clinical Competence / Q000706:statistics & numerical data; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005762:Gastroenterology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010818:Practice Patterns, Physicians' / Q000706:statistics & numerical data