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Electronic Supplementary Material
Journal of Behavioral Medicine
What is a good medical decision? A research agenda guided by perspectives from multiple stakeholders
Case Scenario #1: Incidental findings from genomic sequencing
Mr. and Mrs. Jones are the parents of a child with an undiagnosed rare genetic syndrome. A genetics team offers whole genome sequencing to try to identify the cause of the child’s condition. This test entails interrogating the child’s genome for gene variants that may have caused the condition by comparing the child’s genome to the genomes of the unaffected parents. This allows genetic variants that are unrelated to the child’s syndrome, but that still have medical implications for the child or the parents, to be detected (so called “incidental findings”).
Mr. Jones watched his mother die of breast cancer when he was a teenager. Because Mr. Jones is very worried about the possibility that he or a loved one will develop cancer, Mr. and Mrs. Jones decide that they want to learn any incidental findings related to cancer. Mr. Jones, a healthy, 34-year old man, is found to have a pathogenic mutation in the CDH1 gene. The CDH1 mutation is associated with hereditary diffuse gastric cancer. CDH1 carriers who have had multiple family membersdiagnosed with related cancers (e.g., gastric cancer, lobular breast cancer) have an ~80% risk for developing diffuse gastric cancer by age 80. The risk of this cancer in the average population is ~0.9%.
Gastric cancer screening options are poor. Screening has unproven, limited efficacy, and early detection is uncommon. Diffuse gastric cancer is usually diagnosed at a late stage even with screening, and has a <20% 5-year survival rate. Therefore, patients who have a pathogenic CDH1 mutation plus a strong family history of multiple related cancers are recommended after age 20 to have prophylactic surgical removal of the stomach (i.e., gastrectomy) to reduce the risk of developing gastric cancer. Gastrectomy is a complex procedure and often leads to weight loss, diarrhea, altered eating habits, and vitamin deficiency. However, the cancer risks and appropriate management strategies for patients with CDH1 mutations without strong family histories, like Mr. Jones, are unknown.
Given that Mr. Jones’ risk management options are to do nothing, undergo stomach cancer screening, or pursue prophylactic surgery, how can Mr. Jones and his care team achieve a “good” decision about managing his uncertain risk for hereditary gastric cancer?
Case Scenario #2: End-of-life decision making
A 56-year-old homeless woman underwent intubation and mechanical ventilation following a ruptured aneurysm. If she survived the immediate crisis, the aneurysm could be treated, but surgery has a high mortality risk. Without surgery there is a 50% chance of recurrent bleeding in the next 6 months. The patient's condition did not improve over the next few days. Doctors concluded that she had ~70-80% chance of being in a long-term persistent vegetative state, and less than a 2% chance of full recovery. The most likely prognosis was severe disability that would leave her dependent on care by others.
The patient had not been in contact with her family for several years. After being told of the patient's condition, her mother and brother agreed that she would not want to live in a state in which she would be dependent on others for daily care and have severely impaired cognition. However, the son, who was the legal next of kin for making medical decisions, described the patient as “a fighter” who would want aggressive care until the prognosis was more certain.
Supportive care was continued for 3 weeks, without any change in the patient's condition. Given the patient’s lack of improvement and extremely poor prognosis for any meaningful recovery of cognitive function, the care team believed that all aggressive and supportive measures should be discontinued and the goals of care changed to those of providing comfort. The brother and mother agreed with the shift to comfort care. However, the son was much more uncertain.He felt strong pressure from his family to shift to comfort care, but he also felt guilty about losing touch with his mother and about the prospect of shifting to comfort care if there was any hope for recovery.
What will a “good” medical decision look like in this situation?
Modified from: Slutsky AS, Hudson LD. 2009. Care of an unresponsive patient with a poor prognosis. New England Journal of Medicine, 360: 527-31.
Case Scenario #3: Colorectal cancer screening and age
Mr. Davis has been the poster child for colorectal cancer screening. He got his first colonoscopy right at age 50, and has had repeat colonoscopies at age 60 and 69. None showed significant polyps or cancerous growths. Now just past his 77th birthday, Mr. Davis is visiting his primary care doctor and brings up the topic of when he should get his next colonoscopy. Unfortunately, Mr. Davis is not in ideal health at this point, with diagnoses of moderately severe COPD, hypertension, and early stages of Type 2 diabetes, as well as some chronic joint pain from arthritis. Given these comorbidities, his life expectancy is likely less than 10 years, which implies that even if a colonoscopy were to find polyps and/or colon cancer, it is likely that Mr. Davis will die from something else before the cancer could grow to cause significant problems. Furthermore, based on his age alone, the risks of colonoscopy itself are at least non-trivial. Yet, Mr. Davis has always been adamant that regular cancer screening is “what you do” to stay healthy and clearly believes that the only question is when to get the next colonoscopy, not whether or not to have one. When his doctor raises the fact that Mr. Davis is getting older, he interrupts with “and that’s why I want to make sure we don’t wait too long to have the next one.” Given that interruption, Mr. Davis’ doctor doesn’t press the issue and just orders the colonoscopy.
Has a “good” decision been made by Mr. Davis and his primary care doctor?
Case Scenario #4: Surgery for low-grade ductal carcinoma in situ
Susan is a 55 year-old white woman and has no known family history of breast cancer. She recently had a mammogram, and her doctor told her they found something in the picture of her breast. Follow-up testing revealed that she has ductal carcinoma in situ (DCIS), or stage 0 breast cancer.
One treatment option is to have a mastectomy, which would remove the lesion and the entire breast around it. She could have reconstruction surgery which would result in a normal looking breast. It is also possible that reconstruction would not be successful or that there would be complications of surgery, but the doctor says that this is unlikely.
Another option is to get a lumpectomy, which would remove the lesion and the tissue around it. Then Susan would get radiation treatments. This treatment course would require her to come to her treatment center nearly every day for weeks. The time commitment would be difficult, but Susan thinks she can do it with help.
Susan recently read in the newspaper about research showing that women who receive surgery for DCIS have the same survival as women who do not receive surgery. It might be possible to just monitor her condition and not do any treatment right away, or possibly even never do surgery. But Susan's doctor says she is not comfortable with that option, even though the DCIS is low grade and the study reported that surgery was not related to survival for low grade DCIS.
What will a “good” medical decision look like in this situation?