Genetic testing opens can of worms for Alzheimer's patients
Healthcare professionals tend to have a belief in facts, and as a corollary believe in conventional wisdom that knowledge is power. The more information a resident or family member has, the better informed they can be to make the “right decision.”
Of course, what people SAY they want to know and how they actually act is often miles apart. Two news items this week — an op-ed by Angelina Jolie about her decision to have an oophorectomy and study results from the University of Michigan in Public Health Genomics — reflect conflicting beliefs around knowing genetic risks.
Jolie wrote two years ago about her decision to have a prophylactic double mastectomy after finding out she was BRCA1-positive, and this week did another great service to women in helping them understand risks around genetically-linked ovarian and breast cancers. She's clear to explain why she made her decision, but also to caution “most important thing is to learn about the options and choose what is right for you personally.”
Meanwhile, the University of Michigan study asked what kind of factors influence patient demand for whole genome sequencing, especially among parents. Nearly 62% of parents said they'd want a complete DNA read for themselves, and 58% said they'd want that for their children.
"Particularly fascinating was that parents' interest for having predictive genetic testing done for themselves reflected their interest in testing their children too — it appears to be a global decision for the family,” wrote senior author Beth Tarini, M.D., M.S., assistant professor of pediatrics at University of Michigan's C.S. Mott Children's Hospital, and a researcher at the Child Health Evaluation and Research Unit.
It's easy, as it is with all genetic tests, to think logically: “If we know, we can plan.” A patient or resident in the early stages of Alzheimer's may want a family member to be tested, or ask you for your clinical opinion about genetic tests. The correct answer — and doctors, I'm looking at you — is to refer them to a genetic counselor rather than the default of, “Well, it can never hurt to know.”
Genetic testing — whether it's for Alzheimer's, cancer or other hereditary disease — can open a whole pallet of cans of worms, and family members or residents can be left floundering. One question to ask, either on behalf of yourself or a resident is: What difference will it make? Will treatment or life decisions be impacted? One can hope that a resident's daughter who finds out she has the Alzheimer's gene (APOE) may start putting away for long-term care insurance … but maybe not. That's even more true with whole genome sequencing, the study author warned.
“It's a test that gives you a lot of data, but the devil is in the details," Tarini says. "First, interpreting the data is challenging because we are not sure what all of the data means. Second, even if you can interpret the data, then you may not know what to do with the interpretation. Perhaps you learn you have a slightly higher risk of getting prostate cancer or diabetes — neither of which is for certain or in the near future. Now what?"
Finally, Tarini's results are important to understand in light of economist Emily Oster's work with Huntington's Disease patients. Oster was looking at the economics around this terminal disease, but one thing she said in a talk last year in Chicago stuck with me: Before the Huntington's disease test came out, everyone said they wanted it. Then it became available, and the rates of those who are tested were — and are — shockingly low. You can read or hear more about this from Oster here.
For me, the uncertainty of not knowing if I had a degenerative neurological disease such as Huntington's would dominate my life. Journalists, economists, nurses, Angelina Jolie: These are groups of people who cherish facts.
But we have to have empathy and context for what seems to be a fundamental truth about bad news: Sometimes, people want to live their lives and not focus on a grim future. There can be a value in not knowing.
Elizabeth Leis Newman is Senior Editor of McKnight's. Follow her @TigerELN.