An alarming cancer treatment outcome.
A horrifying story broke last week about a 36-year-old Oregon woman who had elective surgery to remove her uterus and breasts. Elisha Cooke-Moore underwent a prophylactic total hysterectomy and bilateral mastectomy, with nipple-sparing reconstruction and implants, after medical practitioners informed her she had cancer-causing genes. Only later, she learned she didn’t have the abnormality about which she’d been informed. There’s a lawsuit.
As reported in The Washington Post, Cooke-Moore expressed concerns to a doctor about her family’s cancer history before getting tested for mutations in BRCA-1, BRCA-2 and related genes in 2015. A nurse practitioner reviewed the results and erroneously told her she had Lynch syndrome because of an MLH1 mutation. BRCA testing was “negative.” It’s not clear if any doctor directly reviewed the lab report. An obstetrician-gynecologist informed Cooke-Moore that her chances of developing breast cancer were 50% and for uterine cancer up to 80%. In 2016, at least two surgeons operated.
Cooke-Moore discovered the mistake while looking over her medical records: The MLH1 result was “negative,” she noted in 2017. “I am damaged for the rest of my life,” Cooke-Moore told The Washington Post.
Never mind the specifics. While it sounds like the plaintiff received egregious care, and I am sympathetic, I see this as a larger story of confusion over genetic test results leading to irreversible harm. My aim here is not to probe Cooke-Moore’s results or the circumstances of her decisions, but to consider the lessons for other patients and doctors. This case should be a wake-up call about the quality of DNA testing and what variable guidance patients receive about their results. The implications are broad.
Checking genes for presence or absence of mutations is not straightforward as you might think. Mutations vary: They’re rarely “positive” or “negative,” end of story. Some doctors may not fully appreciate the nuances of genetic findings. While some DNA abnormalities are clearly linked to disease, such as mutations tied to cystic fibrosis or sickling of hemoglobin, often there’s a range of severity of illness and pathology among affected patients. Among the cancer risk genes, BRCA-1 and -2 are probably the best studied. Yet even for those, doctors don’t yet understand why some people who inherit BRCA mutations don’t develop cancer, i.e., what mitigates disease risk. Some changes are deemed variants of uncertain significance.
Given the enormity of this subject, I’ll focus on three practical measures to reduce regrettable outcomes after testing for cancer genetic risk.
|Read Full Article: 3 Lessons From An Alarming Case Of Mistaken Cancer Gene Test Results And Surgery|