Design and Methodology of a Study of Psychosocial Aspects of Genetic Testing for Hereditary Colorectal Cancer

1997 ◽  
Vol 833 (1 Cancer) ◽  
pp. 190-194 ◽  
Author(s):  
SALLY W. VERNON ◽  
ELLEN R. GRITZ ◽  
SUSAN K. PETERSON ◽  
CHRISTOPHER I. AMOS ◽  
WALTER F. BAILE ◽  
...  
2007 ◽  
Vol 25 (23) ◽  
pp. 3534-3542 ◽  
Author(s):  
Henry T. Lynch ◽  
C. Richard Boland ◽  
Miguel A. Rodriguez-Bigas ◽  
Christopher Amos ◽  
Jane F. Lynch ◽  
...  

Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a medical geneticist and/or a medical genetics clinic.


2002 ◽  
Vol 116A (2) ◽  
pp. 117-128 ◽  
Author(s):  
Ann-Marie Codori ◽  
Kristin L. Zawacki ◽  
Gloria M. Petersen ◽  
Diana L. Miglioretti ◽  
Judith A. Bacon ◽  
...  

2015 ◽  
Vol 35 (6) ◽  
pp. 734-744 ◽  
Author(s):  
Sara J. Knight ◽  
Ateesha F. Mohamed ◽  
Deborah A. Marshall ◽  
Uri Ladabaum ◽  
Kathryn A. Phillips ◽  
...  

JAMA ◽  
1997 ◽  
Vol 278 (15) ◽  
pp. 1278-1281 ◽  
Author(s):  
F. M. Giardiello

2021 ◽  
pp. 102-109
Author(s):  
Sukh Makhnoon ◽  
Susan K. Peterson

Psychosocial factors influence colorectal cancer (CRC) genetic testing decisions and risk management strategies. Psychosocial research on hereditary CRC has focused on understanding individuals’ motivations and decisions regarding genetic testing, the psychological impact of genetic risk notification, the effects on family and interpersonal relationships, and factors influencing the uptake of risk reduction options (e.g., screening, risk-reducing surgery, or chemoprevention). Overall, the literature on psychosocial aspects of hereditary CRC suggest that despite initial fears, negative psychological impacts of genetic testing are often absent or modest, and adverse impacts, if observed, are short-lived. Due to the shared familial nature of genetic information, patients utilizing CRC genetic testing also experience novel psychosocial challenges in terms of family communication and childbearing. Positive psychosocial benefits such as relief from uncertainty and satisfaction of curiosity have been less frequently examined. Psychosocial outcomes vary across types of genetic testing, test results, gene penetrance and associated cancer risks, and various clinical and personal factors. For example, the psychosocial outcomes in response to an uncertain test result from a moderate-penetrance CRC-related gene may be different from a negative test result in a high-penetrance gene. This suggests that generalizing psychosocial outcomes from the various areas of scholarship may be unwise. Psychosocial aspects of genetic testing deserve attention by researchers and clinicians to design and deliver tailored genetic and psychological counseling support services geared to the ongoing needs of patients and their relatives who face genetic risk for colorectal cancer.


2018 ◽  
pp. 209-232
Author(s):  
Conxi Lázaro ◽  
Lidia Feliubadaló ◽  
Jesús del Valle

JAMA ◽  
1997 ◽  
Vol 278 (15) ◽  
pp. 1278 ◽  
Author(s):  
Francis M. Giardiello

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