Would You Want To Know Your Risk of Losing Your Mind?

According to one estimate, one in seven Americans over age 70 suffer some form of dementia. Alzheimer's disease is the most common cause of dementia in seniors, accounting for 2.4 million of the 3.4 million Americans with the condition. The New York Times recently ran a probing series, The Vanishing Mind, that looked at various aspects of dementia. On December 18, the Times asked, "Tests Detect Alzheimer's Risks, but Should Patients Be Told?" The article covered a variety of new tests including brain scans using MRI, spinal taps, and genotype screening that are being used to diagnose Alzheimer's disease in patients before the onset or at the earliest stages of the malady. The question is: Should patients be told?

I'll tell you my answer now: Hell, yes. If they want to know.

One of the tests discussed in the article is APOE screening. The APOE gene has three variants. As the Times explained:

People with two copies of one of the variants, APOE4, have a 12- to 15-fold increased risk of Alzheimer's disease. People with even one copy of the gene variant have about a threefold increased risk.

The Times further noted:

Five different published consensus statements by ethicists and neurologists had considered the question of whether people should be told the results of APOE tests. And every one of those committee said the answer is no, do not tell.

The ethicists' paternalistic concern is that there is no treatment for Alzheimer's disease, so why burden patients with this doom? Patients, poor dears, simply can't handle the truth. The Times then goes on to report research by Boston University physician Robert Green who wondered if this paternalism was warranted:

"It seemed rather strange to be in a position where family members are coming to you and saying, 'I really understand APOE genotyping and the idea of a risk gene, and I want to know my genotype,' and then to say to them, 'I could tell you that, but I'm not going to.' " After all, he said, "Part of what we do in medicine is to inform."

He knew what it meant to tell people they were at high risk.

"Alzheimer's is a fearsome disease," he said. "You can't get much more fearsome than Alzheimer's." And yet, he said, "People still wanted to know."

He decided to do a study to see what would happen if he told.

The first surprise was how many people wanted to know. To be in the study, a person had to have a first-degree relative who had had Alzheimer's, making it more likely that they would have an APO e4 variant. Dr. Green thought maybe a small percentage of the people he approached would want to have the genetic test. Instead, nearly a quarter did.

"Frankly, we were terrified in early days of this study," Dr. Green said. "We did not want to harm anyone. We were very, very thoughtful and intense. We sat with people beforehand and asked if they were really sure they wanted to do this."

But his subjects were fine with the testing. After they gave the subjects their test results, researchers looked for psychological effects, observing participants in conversations and administering standardized questions designed to detect anxiety or depression or suicidal thoughts. They found nothing.

On December 25, the Times' printed several letters reacting to the testing issue. Selected quotations below:

Mount Sinai School infectious disease specialist Mahesh Swaminathan:

At some point I may be told I have the disease that will be my undoing. When that day comes I hope that my doctor will respect me enough to tell me the truth so my family and I can face the future with courage and dignity.

Florida resident Lois Bloom:

I understand that there is no cure for Alzheimer's disease and that little if anything can be done to postpone it or to treat it once it is manifest. But that is a clinical, medical rationale for withholding the diagnosis.

I am all too aware of what having that information means since my mother died of Alzheimer-related causes. Nevertheless, I most definitely do want to know if the same fate is in store for me so that I can begin to plan the rest of my life while I am still "in charge."

Alzheimer's activist Meryl Comer:

As the caregiver for the past 17 years for both my husband (early onset Alzheimer's) and my mother (late onset), I had a genetic screening three years ago that indicated a gene variant that puts me at increased risk.

So when doctors ask why we should test until we can effectively treat, I would respond that we, as a baby boom generation of potential victims, own that decision — not our doctors.

The Times printed just one pro-paternalism voice.

Johns Hopkins University geriatrician Thomas Finucane:

Thinking of elderly patients whom I've known for years, I am nearly certain that informing patients of the diagnosis of Alzheimer's disease as early as possible, or telling them of an increased risk of the disease, will be harmful on the whole.

As I discussed in my recent article on the science, policy, and ethics of genetic screening, I'll Show You My Genome, Will You Show Me Yours?, I did have an APOE test. As I reported:

The prospect of Alzheimer's disease is so frightening that two prominent researchers who have had their genomes scanned—James Watson, co-discoverer of DNA's structure, and Steven Pinker, a cognitive psychologist at Harvard—declined to learn what their gene tests have to say about their risk of it. Specifically, they didn't want to know if they carry copies of the APOE4 allele, which boosts the odds that a person will eventually get Alzheimer's to as much as 20 times the average. (More happily, recent research suggests that people carrying APOE4 alleles have better memories in their youth than those who carry the APOE3 variant.)

Unlike Watson and Pinker, I do want to know. Not all gene screening companies include APOE4 testing, but Pathway Genomics does. The good news is that my failing memory is not due to APOE4; I have inherited two copies of the more common APOE3 variant, which suggests that my lifetime risk of Alzheimer's disease is average. Of course, there are other gene combinations that can increase or decrease my risk.

Subsequent to the article's publication, I discussed it on a Wisconsin public radio program. Several calls from listeners suggested that they did not want to know about their Alzheimer's risk. I don't understand wanting to remain ignorant in this case, but as I told them, if you don't want to know, don't take the tests. However, I expect my physicians to treat me like an adult.