What information should patients have about their disease risks and diagnoses? Back in the mid-20th century, polls found that a majority of physicians would not tell their patients that they had cancer. And why should they? The chances of successful treatment were low for most cancers. Now most of us would consider this attitude unethically paternalistic and rightly so. And yet, medical paternalism lingers on.
For example, back in 1997, the Stanford University Working Group on Genetic Testing and Alzheimer's disease declared, "Neither predictive nor diagnostic genetic testing for susceptibility genes (e.g. APOE) should be encouraged at this time." Even back in 1997, geneticists recognized that the APOE4 allele boosted the risk of Alzheimer's by 4 to 12-fold. Why should testing for APOE alleles be discouraged? As the Stanford panel explained:
Predictive APOE testing should be discouraged; the application of such poor predictive information to an individual is not appropriate. While we are not prepared to state "how much" predictive value is enough, we are not precluding the possibility that further research may one day render predictive APOE testing useful to some individuals. Future assessments of such utility should take into consideration the level of information that is deemed useful by those affected.
How about letting "those affected" make their own judgment about the usefulness of the testing information? In any case, the APOE test can only provide risk information, not a definitive prediction about which individual patient will eventually suffer from the disease.
Last week, researchers reported that a new test using spinal fluid might well be just such a predictive test for individual patients. Assuming it proves out, should patients be given the results of this new test? After all, there are no good treatments for this progressive disease yet. University of Pennsylvania bioethicist and senior fellow at the liberal Center for American Progress Jonathan Moreno thinks so. As Moreno told the New Republic:
With Alzheimer's, right now, the power to detect has fewer consequences for medical intervention, since the disease remains such a grim diagnosis. Some will question when to offer the test — or even whether to offer it at all. But, sometimes, knowledge really is power. And while some people might use the knowledge to contemplate assisted suicide, years in the future, most would probably use the test simply because they feel the need to have some control — the chance to plan sensibly for the time they have, the opportunity to put their affairs in order, to re-focus their lives on what is really important to them.
There are, and will be, clinical trials for new treatments: People might take the test so that, if they test positive for Alzheimer's, they can sign up for them — both to contribute to medical science and to preserve a sense of hope. Some might undertake dietary and other lifestyle changes that seem to delay or lessen the symptoms. The evidence that these kinds of adjustments can make a difference is not definitive but it is growing. One benefit of the tests: Enabling more long-term studies of the benefits of lifestyle modifications.
All too often physicians and bioethicists still suffer from paternalistic medical myopia in which they see diagnostic and risk information about diseases faced by individual patients as being ONLY relevant to possible treatment options. Moreno gets it right; people should have access to this type of information to help guide their thinking about and planning of other aspects of their lives.
Disclosure: According to my direct-to-consumer genetic test results from Pathway Genomics I am homozygous for the APOE3 allele which is associated with an average risk of Alzheimer's disease. My ongoing cognitive decline is likely the result of other factors. I also note that under pressure of medical paternalists Pathway Genomics is no longer offering its tests directly to consumers.
Further Disclosure: I have enjoyed a number of very pleasant and informative lunches with Jonathan Moreno (we split the bills) and he has invited me to participate in various bioethics-related conferences at the Center for American Progress.