Sunday, December 8, 2013

is knowledge really power?

The American College of Medical Genetics and Genomics recommended a collection 57 actionable genes to be that should be evaluated whenever a doctor orders a genome or exome sequence for a patient, EVEN when patients do not want to know the results. The list includes conditions that are highly hereditary, such as hereditary breast and ovarian cancer; Lynch Syndrome; Marfan Syndrome; hypertrophic and dilated cardiomyopathy; familial hypercholesterolemia; retinoblastoma; tuberous sclerosis complex.

But these are merely recommendations. There are no regulations, no rules in place. So, there has to be enough community support in the clinic for a set of guidelines for this to push through. Either that, or a blanket policy that bulldozes its way ahead. Otherwise, such recommendations are not going to take flight.

Part of the inertia can be attributed to the aggressive enforcement that such evaluation is done even when the patient does not want to know the results. I think there should be a middle ground. The decision to live or die is ultimately the choice of the patient. Perhaps, there should be a form for the patient before each genomic test is done, much like what has been practised in the clinic with organ transplant and life support systems in patients with dire conditions. This should explain what the genomic test entails, what it finds, and why the 57 genes, and why they should be concerned.

There are still false negatives and false positives in every test. Patients should have the rights to choose if they want to know. That decision can be a confluence of various factors beyond just having the disease or not - quality of life after knowing, emotional anxiety etc. And for a single test that gives you information more than what is being asked for, it shouldn't be a blanket enforcement. Perhaps a little flexibility might sit well with people.

But then I suspect, the inertia might be bigger than just this issue.

A slight complication: what if the test is not done at the request of a clinician?

All being said, only a small percentage of people should be affected by this at this point - these inherited conditions typically rare in the human population in general. But it is a good opportunity to start thinking about models of delivering/integrating genomic information into the clinic.

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