Over at his blog Gene Expression, Razib Khan expressed his disgust with the paternalism of the medical profession. His disgust was not misplaced, but he did bypass some of the subtleties.
Razib, a respected science blogger, ran smack into a frightening piece in Time. In it, doctors discuss whether and how much genetic information should be given to parents about their kids. The doctors featured evaluated a child’s genome, found a potential for early-onset dementia, and chose not to tell the parents. Let’s break this down.
Paternalism vs. Autonomy
Paternalism in medicine isn’t prima facie bad. We count on professionals to use their superior knowledge, experience, and relative objectivity to help us. The premise is, “you know more than I do; help me.” The foundation of medical practice rests on centuries of paternalism taken to every imaginable extreme: surgeries performed without consent, diagnoses being withheld, forced sterilization. Over the last fifty years the reliance on paternalism has given way to our value of patient autonomy. This has been an uneasy struggle, one that lives in a grey world of few right answers.
But there are many things we as a society and medicine as a profession do agree upon. The basis of patient autonomy is informed consent. Patients should be given every opportunity to understand what we propose to do for them and be given a chance to assent or decline any test or treatment.
Once a patient has given consent, information must continue to flow. I cannot ethically order a test or perform a procedure and then withhold the outcome from the patient.
Since there are a lot of grey areas, it’s helpful to see if there are any bright lines. A patient who comes to see me signs a general consent to treatment which covers much of what we do. I don’t need to explicitly ask permission to look into an ear or to analyze kidney function. These are presumed to fall under a general consent because they are relatively minor interventions that are a normal part of an exam and commonly without grave implications. Contrast this to a CT scan of the abdomen. This is a more “extraordinary” intervention, one with potential risks (radiation exposure, exposure to potentially toxic intravenous dye) and one whose results may give life-altering information (a tumor, a need for surgery, etc.).
Let’s take these roughly-sketched guidelines—specific consent should be obtained for extraordinary procedures with unusual risks or high probability of life-altering results—and take a look at the Time article.
The piece is not terribly written, but it leaves out a lot of important information. That being said, we can assume that a genomic analysis was conducted of some children, and doctors puzzled over whether to give the results to the parents.
Ethics require that the parents (who are surrogate decision makers for the children) be given informed consent. The genomic analysis should not be done at all without informing the parents what we can or cannot learn from the test. Genetic predisposition to disease can be very mushy: it’s easy to see if someone has sickle cell anemia, but not so easy to see if they will develop hypertension.
For the purposes of this discussion, I’ll assume that whatever this “dementia gene” the doctors found gives the child a very strong chance of dementia at an early age. In this case, they cannot ethically withhold this information from the parents. What if there were a “maybe, sort of” predisposition? Same answer.
In fact, if the parents gave their informed consent, and the information included the uncertainties inherent in genomic analysis, they have the right to all the results, along with interpretations from a professional who understands them. If they were not given proper informed consent, the test shouldn’t have been run. A doctor who orders a test must have it’s consequences mapped out in advance, and shouldn’t be wondering after the fact what to do with the data.
This scenario assumes an ideal collaboration between doctor and patient, where communication flows freely, where a doctor uses their expertise to guide patients’ decisions. The complex nature of medical knowledge and its potential for life-altering impact (and expense) argue against any patient being able to order any test for themselves, including a genomic analysis. The information gained from such an analysis requires professional interpretation so that people can use the information wisely. A test result that sounds horrible to a patient may in fact be insignificant, and vice versa.
There are risks to people having unbounded ability to use medical testing and treatment. For patients to agree to this important premise, we as physicians must respect their autonomy and human dignity.