Patient Benefits

Cancer risk assessment may benefit patients who are concerned about their family or personal history of cancer, but it is a personal choice. An important first step is for the patient to gather information about the family and its medical history.

A genetic counselor, using these data and possibly some medical records to clarify ambiguous information, can construct a family tree that serves as the foundation for a risk assessment and educate the patient about issues such as genetic testing, screening options, and available clinical trials. The initial visit may last from one and a half to two hours.

Note that state and federal laws prohibit health insurance discrimination on the basis of genetic susceptibility testing. The Health Insurance Portability and Accountability Act of 1996 (HIPAA) prohibits such discrimination by group health insurance plans.

Clinical data show that following people at high risk from CRC with intensive surveillance and immediate therapy when necessary leads to lower mortality rates. Benefits of such surveillance include:

• prevention of cancer through appropriate interventions for affected family members
• avoidance of unnecessary interventions for those who did not inherit the mutation
• definition of each patient's personal risk of developing HNPCC-related cancers

Effective preventive options for patients with altered MLH1 or MSH2 genes include:

Surveillance

• colonoscopy every one to three years beginning at age 20 to 25, or 10 years before the earliest age of diagnosis among family members, whichever is younger

Preventive surgery

• full rather than partial colectomy for colon cancer when diagnosed
• preventive colectomy an option when precancerous polyps are discovered, or for carefully selected patients who are unwilling to undergo periodic screening

Chemoprevention

• investigational preventive drugs available through clinical trials for certain conditions