What's Your Genetic Risk for Alzheimer's Disease?

There has been ongoing debate between the advocates for knowing one's genetic risk for Alzheimer's disease and those who think the information isat best—useless, and—at worst—possibly harmful and causing emotional distress. There has been particularly vigorous debate regarding genetic information and the APOe4 allele that is present in about 15 percent of the general population and in about a half of all people diagnosed with Alzheimer's disease.

The Argument: Those in Favor of Knowing Genetic Risk

The advocates for knowing one's risk for Alzheimer's disease argue that such knowledge will relieve the needlessly worried (when the genetic risks are low) and may encourage a more proactive approach toward managing other risk factors (when the genetic risks are high). Additionally, those who face a higher risk can work with their physicians to be vigilant in monitoring cognitive health and can act on any emerging symptoms with alacrity. Doing so increases the likelihood of timely intervention and optimal treatment effects if and when signs of Alzheimer's disease begin to surface.

The Argument: Those Against Knowing Genetic Risk

However, detractors maintain that such knowledge may lead to undue anxiety and depression among those with high genetic risks, especially since there is no cure for Alzheimer's disease. After all, having higher risk does not guarantee that one will eventually develop Alzheimer's disease, so increased worry based on higher genetic risk factors might bring needless emotional harm.

How Experts Weigh in on the Debate

As evidence about treatment efficacy and the benefits of early intervention continues to grow, the expert community is increasingly aligned in favor of knowing one's genetic risks for developing Alzheimer's disease. In addition to this growing body of evidence suggesting that it is best to know, we have also begun to see an erosion of the argument against knowing. In fact, the speculation that learning about risks might produce emotional distress is looking increasingly off base as two recent studies (published in the journals Alzheimer's and Dementia and the New England Journal of Medicine respectively) have suggested the opposite. That is, people who learn that they have high risks apparently do not suffer increased emotional distress from that knowledge. If anything, they gain a small sense of relief and certainty, as questions about their health risks become less ambiguous. This represents the proverbial "free lunch" as it is a potential gain without an associated cost.

Such academic debate as we have seen on this issue, followed by research and the subsequent assimilation of new facts, is the scientific process at work. This process generally serves us well and brings important information through a vetting process and into mainstream health care. It is a shame that this can sometimes seem to prevent more rapid adoption of beneficial ideas and points of view but it does so to prevent harmful ideas—ones that may look helpful on the surface—from permeating prematurely.

How Knowing Your Genetic Risk for Alzheimer's Can Help

In any case, I am happy to see this debate nearing a conclusion. I believe that the argument against knowing one's genetic risks for Alzheimer's disease has undersold the effectiveness of current treatments in some patients, especially when intervention occurs at an early stage of the disease. To the extent that this argument has discouraged otherwise proactive patients from seeking professional medical attention at the onset of even subtle symptoms, it has hampered one of our most useful weapons against Alzheimer's disease: that of early intervention.

To be clear, I don't think anyone should have personal genetic information thrust upon them if he or she doesn't wish to know it. But among the increasingly well-educated consumers of health care, there is an appetite for information and everyone has a right to know about their own genetic risks. The bottom line is this: enlightened physicians and informed patients are increasingly choosing to learn as much as possible about their risks in order to mange their health through an educated approach. The evidence shows that it makes good sense to know your risks for Alzheimer’s disease, to manage them, and to be proactive when symptoms emerge.

Editor's Note: For further reading, see 4 Steps to Managing Alzheimer's Disease and the Alzheimer's Association's Alzheimer's Disease Management Guidelines.

Posted in Brain Health, Memory Loss & Alzheimer's, Types & Causes of Dementias