Genetics and medicine: the right to know, and the right not to know

An interesting debate is emerging in the United States as advanced genetic analysis tests become more widely available and at affordable prices, either in the form of a full DNA sequences or to determine predisposition or vulnerability to certain diseases. In short, do we have the right to refuse to undertake such tests? Can the authorities take a DNA sample without our permission?

Let’s imagine that you visit your doctor about a relatively minor health problem. To secure a better diagnosis, the doctor orders a DNA test that will allow him to detect the risk of a serious illness which would enable him or her to then take measures to change your diet or lifestyle, and even to carry out biopsies for problems that might be waiting for you down the road. Actress Angelina Jolie’s decision to have both her breasts removed to avoid mammary cancer, which she was predisposed toward developing, has generated a lot of attention to the subject, and which has led to restrictions being imposed on genetic tests of this type unless carried out under strict medical supervision.

I undertook a test by 23andMe when the company could still provide you with detailed information about your health (if you take the test now you will simply be given a few geographic DNA indicators about where your ancestors came from, but nothing about any risk from genetically codified illnesses). My results were apparently no cause for alarm: a moderate risk from problems such as gout or gallstones, and a very slight predisposition to a particular kind of cancer of the esophagus. I can’t say with any certainty how I would have reacted had the tests show a high risk toward some disease or other, but the studies appear to show that most people deal with such results calmly, and from then on continue tests regularly, and making some changes to their diet and routine.

But what happens when somebody refuses, for reasons of conscience not to allow these kinds of tests on themselves? By doing so they could be making it more difficult to obtain a credible diagnosis, they could be making problems for the doctors looking after them, and they could be obliging other contributors to the health system or to a private medical insurance scheme, meaning more costs to get another analysis.

And what happens if the doctor in question carries out the tests anyway, but doesn’t tell the patient, but simply uses the results to treat the problem that treatment was initially sought for? Does a doctor who knows that somebody has a particular problem have the right not to tell the patient?

Is there any logic in respecting this “right not to know” demanded by the patient, if by informing him or her, and then carrying out treatment, the problem could be mitigated or even prevented? Why should a public health system have to absorb the costs of treating a disease that could have been prevented by dealing with it via the right diagnosis at the right moment?

The issue is not unrelated to the debate over treating smokers. Why should the health system use public money to treat a cancer that somebody has developed because they decided to smoke? Shouldn’t the consequences of deciding to smoke, which we do knowing of all the associated and potential risks, be borne by the individual, and not by everybody else who pays into the system?

If somebody rejects DNA testing, and by so doing exposes themselves to greater risk, shouldn’t we be able to pass on any extra health care costs to that individual?

These are tough questions, but ones that are rooted in the real world. The decision to ignore information that could help provide a detailed genome analysis doesn’t just affect the individual, but the whole of society.

We also need to look into the possible effects that a particular analysis could have in terms of discrimination: the Genetic Information Nondiscrimination Act (GINA), which has existed in the United States since 2008, protects citizens against discrimination in relation to employment or health cover based on their genetic makeup. That said, this is information that needs to be very carefully protected, otherwise we will see people denied health insurance, except at very high prices.

As DNA-related information because more widely available at lower prices, more and more questions will present themselves. We might not be living in Gattaca yet, but it looks like we’re getting closer.

(En español, aquí)