Bioethics and release of incidental genomic findings

[jim mcnamara]

This post is in GD because there is no one agreed upon answer even though it deals with genetic data and its use. It is an ethics discussion...

https://science.sciencemag.org/content/373/6555/610
Incidental genomic data means giving patients extra information about what is found in a vounteer patient genome that has potential for disease ( example: like the BRCA gene and breast cancer). As it stands now the policy mostly seems to be to ask the patient if they want the information, and to give it to them only with their consent.

So you understand the magnitude of the problem, consider how many disease processes have a genetic component - literally thousands.

Many are orphan diseases that kind of oddball things, like oyster borne Vibrio (bacterium) disease which may kill someone who has both the wrong gene and has eaten raw oysters that are infected. People without the gene usually will not have a severe problem. Obviously if you don't eat oysters or always eat them cooked - no problem.

Other rare conditions like Kearns-Sayre Syndrome, a genetic defect in mitochondrial DNA, may be partially mediated if caught early and may be a more severe problem otherwise.

https://www.ninds.nih.gov/Disorders/All-Disorders/Kearns-Sayre-Syndrome-Information-Page

The point is: do we or do we not give people information like this as a de facto ethical standard of procedure?

 

[fresh_42]

I saw a documentary today of a film team who accompanied several persons with trisomy for over a year. One woman fought for it shouldn't be allowed to have late abortions if prenatal testing showed trisomy and that the costs for the tests shouldn't be covered by the general health insurance.

She said "I do not want to be aborted. I want to stay in this world." What she really said is, that nobody should ever be allowed to tell her, that she wouldn't be there if the law only had been in place earlier.

Our government has an ethics commission where such topics are discussed. But as usual, the key lies in the appointments. The more we are able to do biochemically, the harder it is to achieve an ethical commitment in time. We cannot debate all topics long and publically enough.

The information about a genetic predisposition shouldn't be a question. A person must have the right to know what others know about them! Ethics can only jump in when the consequences are evaluated, not before. The only other acceptable solution is not to test.

 

[berkeman]

As it stands now the policy mostly seems to be to ask the patient if they want the information, and to give it to them only with their consent.

Is this a routine question on the forms that patients fill out when enrolling in those studies? If so, I think it's covered pretty well. It might be good if there were perhaps different categories of such information, ranging from "You definitely have something that we can treat/prevent right now" to "With this gene you have a low chance of developing this condition".

And is there a chance that such data in the sequencing could be wrong, and cause false worry in the patient? I know with standard tests for certain things, there is usually a chance for false positive/negative that will prompt a second set of tests to verify before starting any treatments...

 

[Astronuc]

The point is: do we or do we not give people information like this as a de facto ethical standard of procedure?

I think the information should be offered. I'd want to know, and my wife already knows her situation. Both of us have relatives (parents, aunts/uncles, cousins) with certain illnesses that have some familial/genetic component. I'm aware that some don't want to know.