A Focused Clinical Review of Lynch Syndrome

The results of germline testing for LS can be complicated and the diagnostic pathway is not always clear. Furthermore, by testing only those with cancer for LS we fail to identify these individuals before they develop potentially fatal pathology.

Given the benefits to discovering that someone has LS, not just for the patient but for their immediate family members, it is expected that most people would welcome genetic testing for LS. In fact, there is good number of studies that suggest that hypothetically there is a high interest in finding out this information.By contrast, there are good reports that show that there is a high number of people that decline testing.

In summary, LS care has come a long way over the last twenty years. We now understand the individual cancer risk to inform consent, tests to accurately diagnoses LS and ways by which we can reduce cancer risk. However, more needs to be done to find those who are undiagnosed, develop less invasive cancer surveillance methods and develop new vaccinations and treatments.


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