Recommendations and Reality: What Personal Stories of Hereditary Cancer Can Tell Us

Recommendations and Reality: What Personal Stories of Hereditary Cancer Can Tell Us | Genomics and Health Impact BlogGenomics and Health Impact Blog | Blogs | CDC

 Personal Stories of People Living with Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome

 We can better understand the reality of these benefits and harms for individuals and families living with HBOC or Lynch syndrome by listening to their stories. Knowing about the potential harms of interventions can help individuals better prepare for them and make informed choices about their options. And seeing the impact of the benefits on individuals and families can be a strong motivator to move forward with an intervention........
........The amount of evidence on benefits and harms for each of these approaches varies. The evidence supporting screening as an approach differs by site, with some screenings, such as colonoscopies for colorectal cancer among Lynch syndrome patients, being strongly supported, while others, such as those for ovarian cancer among Lynch syndrome patients, showing no clear evidence to support screening. Harms found in studies include unnecessary procedures and surgeries. For HBOC, evidence supports use of medications, but only for preventing certain types of breast cancer. Studies on these medications indicate a slight increase in risk for blood clots, and, with the medication tamoxifen, a slightly higher risk for endometrial cancer and cataracts. While the common side effects listed for these medications might seem minor to some people in comparison with cancer, side effects such as leg cramps, weight gain, and loss of bladder control can be very real problems for women who are living with them. For HBOC, evidence on the effectiveness of surgeries to prevent breast and ovarian cancer is clear. In contrast, studies looking at short term harms are limited, focusing mostly on surgical complications, and those considering long term harms are almost nonexistent.
Having Lynch syndrome increases a woman’s risk for endometrial (uterine) and ovarian cancer. In fact, for some Lynch syndrome mutations, the risk for endometrial cancer is just as high, if not higher, than the risk for colorectal cancer. This makes the current lack of evidence on the best approaches for addressing this increased risk particularly frustrating and leaves women to deal with difficult choices in the face of incomplete guidance.....

These detailed personal accounts demonstrate the importance of designing studies that fully address potential benefits and harms of interventions to prevent hereditary cancers, so that individuals can make informed decisions and be prepared for the potential consequences of their decisions. They also have tremendous value in humanizing the experience of hereditary cancer syndromes.