Genetic Health Risk Assessment Case Studies

“Beth,” age 43, Hereditary Cancer Risk Assessment Case

Beth, age 43, has been getting mammograms faithfully for 3 years. Every year she wonders if this is going to be the year she hears the words, “You have cancer.” Beth’s aunt (her father’s sister) died from breast cancer in her 50s. Beth never knew her father’s mother because she died of “female” cancer before Beth was born. Recently, Beth’s father died after a short battle with an aggressive form of prostate cancer. Understandably, Beth is concerned about her risk for cancer. For Beth, we wanted to know if she was at risk due to a hereditary cancer syndrome. We started with hereditary cancer risk assessment and learned that she did not have a mutation in any of the genes that were tested. We ruled out most of the known causes of hereditary cancer, but her family history was still significant. Using clinically validated risk algorithms that factor in her current health status and personal medical history coupled with SNP genetic testing, we estimated that Beth had a lifetime risk of developing breast cancer between 22 and 25% compared to the general population risk of 12.5%. While this did not completely alleviate her concern for developing breast cancer, her risk was estimated to be far lower than she had previously assumed. These results also helped us develop a wellness plan tailored for her risk. Enhanced breast cancer screening would be appropriate- including an annual 3-D mammogram and MRI. She also committed to following healthy lifestyle recommendations. She focuses her diet on fresh vegetable, fruits and lean protein sources. This change, along with a renewed dedication to her exercise regime, has resulted in a healthier weight. She also limits her alcohol intake to an occasional date-night or girls’ night out.


“Louis,” age 60, Hereditary Cancer Risk Assessment Case


Louis, age 60, had always been concerned about his risk for developing cancer. There were several members of his mother’s side of the family who had developed cancer. None of the relatives were under the age of 50 when they were diagnosed, but there were so many of them! Because of the number of cancers and one family member had two different types of cancer, he was considered a good candidate for our hereditary cancer risk assessment program. His testing revealed a mutation in a gene that was associated with the cancers in his family, meaning that he, too, was at risk for these types of cancers. We gathered a team of local specialists to create a screening schedule and lifestyle management program to reduce his risk for cancer as much as possible, and, if a cancer develops, to detect it an early, treatable stage.



“Teri,” age 40, Breast Cancer Risk Assessment and Prevention Program Case


Teri, age 40, was new to our practice and had never had a mammogram. The new guidelines were confusing to her, and she didn’t have a family history of breast cancer. She didn’t want any unnecessary screening done- her best friend starting getting mammograms at age 40, but her friend had a family history of breast cancer. Teri wondered what she should do. Our Breast Cancer Risk Assessment and Prevention Program was just right for her. Our evaluation estimated that 5 year and lifetime risks for developing breast cancer were lower than those of the general population. As long as nothing changed in her family and she continued her healthy lifestyle, waiting until age 45 would be reasonable for her. She also learned that once she had the results of her first mammogram, we would pay close attention to her breast density. If she is found to have dense breast tissue, our estimations may change.



“Cate,” age 48, Breast Cancer Risk Assessment and Prevention Program Case


Cate, age 48, just had her first mammogram. The report noted “heterogeneously dense” breast tissue, and she wasn’t sure what that meant. She knew it indicated she may be at increased risk for breast cancer, but what could she do about it? She has already had one breast biopsy and her mother had breast cancer at age 72. Our Breast Cancer Risk Assessment and Prevention program helped her understand how her breast density and many other factors fit into to her overall estimation for breast cancer risk. We included SNP testing as part of her evaluation, and her 5-year risk for developing breast cancer was estimated to be higher than the population average. While she may not be able to change her breast density, SNPs or medical factors, there were lifestyle changes she could make to lower her risk. She could also consider certain medications that are known to lower risk. We shared her evaluation with her breast specialist so that together she and her healthcare team could decide what was best for her.



“Meredith,” age 36, Proactive Genetic Profile Screening Case


Meredith, age 36, was relieved when her 23andMe genetic health test result showed no mutations. Her father’s side of the family had heart disease, and her mother’s side had cancer–breast, colon and endometrial. What Meredith didn’t realize is that this type of testing is extremely limited! These types of tests do not detect all possible variants of the health conditions listed as part of the analysis, and she was left with a false sense of security. We discussed how Proactive Genetic Profile Screening may be able to give her more of the answers she was looking for. She understood that even though this testing was considered comprehensive, no test is 100% sensitive and that we might get a result that was unclear. The test is also considered experimental and not covered by insurance. After careful consideration, she decided to have the blood test done and pay for it “out-of-pocket.” She was glad that he did. We learned that although there were no variants detected related to heart disease, she did have a gene variant that explained the cancers on her mother’s side of the family. With this test, we were able to diagnose Lynch Syndrome and follow clinically proven strategies to prevent (or detect early) cancers that are associated with this hereditary cancer syndrome. As for her cardiovascular disease risk, we ruled out most of the common hereditary factors, so we developed a healthy lifestyle plan to help her manage her risk based on her family history.