Washington Post Article Down on Gene Testing/MTHFR Etc.

[circular]

Had a hard time knowing which category to put this in.

"Why you shouldn’t know too much about your own genes"

http://www.washingtonpost.com/news/wonk ... our-genes/

[RichardS]

Having been doing research on behavioral genetics for the last 16 years, the article resonates with my viewpoint on much of the public reaction to current genetic research findings.

The conclusion is worth a second look:

But perhaps most worrisome is the fact that MTHFR isn't alone.

"Right now, we're at the stage where we can discover and study variation in genes at a much faster clip than we can understand what they mean," said Lawrence Brody, director of the division of genomics and society at the National Human Genome Research Institute.

Asked whether there are other partially-understood genes where a confusing situation could arise, Khoury had a glib answer.

“Let me put it simply,” Khoury said. “99 percent or more of the genome falls there.”

[circular]

I think it's the accurate big picture too, yet it's interesting to see what can be accomplished by exploring the frontier. A simple example is I see that I ***could*** be deficient in vitamins A and B6, so will have them tested for my status and alter diet or supplement as necessary. Simple. Safe. Done. There needs to be a group of scientists/clinicians from mainstream medicine willing to start a decent website that educates and outlines what can already be done, safely, with genetic reports. They could grade genes for the level of science behind each, as is done with herbs and the like for specific conditions.

Alas, established medicine is threatened by a shifting paradigm while the Internet provides an infrastructure for the cutting edge of individualized medicine to take shape on the fringes, for both worse and better. There's no way to quantify whether more good or more harm us being done.

As usual dualistic thinking prevails on both sides. The most interesting part to me is what happens wherever two worlds collide. Why the same very conservative medical minds ignore this fascinating space while heading out to dine on fusion cuisine I can only chalk up to ego dressed as science.

I keep thinking about the trajectory of non-celiac gluten sensitivity in these contexts. Once characterized as a fad followed by hysterical idiots, and now quite widely accepted, if not yet adequately delineated or satisfying diagnostic needs.

"Leaky gut" same thing.

I so appreciate you RichardS for helping keep us on on an even keel.

Do you think that 99% figure is an actual quantification? I think there may be too many exceptions; ie there may be more than 1% genes (relatively few are included in typical genomic reports) that are actionable at some level. If so, the person throwing out the 99% figure for media effect isn't doing much better than those marketing dubious supplements alongside dubious science online.

[circular]

Looking again he says "99% or more" of the genome isn't well understood for health applications. Last I checked the human genome has 23,000 or so genes. Is 1% of that 230? That's a lot of genes potentially useful now, according to him. Some of these will be deterministic but probably most not. Sounds like a good reason to keep trying to learn more about my genomic reports

[kayell]

Simplistic and biased article. Makes the all too common assumption that because some people won't consider current levels of knowledge and nuances that none of us should have access to information. People who are going to look for woo will with or without genetic info. Having data gives a starting point for evaluation. While a little knowledge can be a dangerous thing, no knowledge is far worse.

[SusanJ]

K, interesting perspective by a relative newcomer to our site. I suspect many of us here are in the same boat of acting on what knowledge we do have. Many of us have said finding out our status was a kick in the pants.

That said, I have friends with AD in their families who have no desire to know since there is no known cure, so I can respect that position, too. Maybe it would have been a better article to present folks on both sides of the coin, since knowing and supplementing for my MTHFR variants has certainly led to better labs and health for me.

[kayell]

K, interesting perspective by a relative newcomer to our site. I suspect many of us here are in the same boat of acting on what knowledge we do have. Many of us have said finding out our status was a kick in the pants.

Yes, knowing about apoe4 status really is motivating to make healthy changes.

That said, I have friends with AD in their families who have no desire to know since there is no known cure, so I can respect that position, too. Maybe it would have been a better article to present folks on both sides of the coin, since knowing and supplementing for my MTHFR variants has certainly led to better labs and health for me.

I would never advocate someone being forced to know their genetic status on anything. Clearly there are people who either can't handle something like that, believe they can't or simply don't want to know. If someone chooses not to know for themselves, that's fine by me.

What raises my hackles is when someone thinks I don't have the right to know because of what they fear/believe might happen. That's disrespecting individuality. (and probably also irrelevant as there is research out there that people don't go into terrible tail-spins on discovering there apoe4 status - my guess is that most people curious, intelligent and interested enough in their own genetics to buy the kit also are informed enough to understand the difference between probability statistics and fate)

There may not be a cure yet, but there are now hopeful indications of relevant actions to take. As more and more research appears, at least now I know to follow it and act on what appears likely, with the ability to reevaluate as more becomes known. Even if there is no cure, my goal is to put off AD long enough that something else kills me first. (props to whoever I stole that line from)

[RichardS]

Do you think that 99% figure is an actual quantification? I think there may be too many exceptions; ie there may be more than 1% genes (relatively few are included in typical genomic reports) that are actionable at some level. If so, the person throwing out the 99% figure for media effect isn't doing much better than those marketing dubious supplements alongside dubious science online.

I can't really say if the 99% figure is close to reality. However, I have seen first hand the statistical nightmare that genetics research offers. It is very easy to find falsely positive significant genes when you have 23,000 of them tested. Now image doing that with 500,000 to 3 million SNP's. Those publishing in the genetics area go to heroic efforts to try to make sure what they are concluding makes sense in the context of such a minefield of potential false findings. The fact that so many of these findings fail to replicate is a testament to the hazards of big data in healthcare. When these papers get attention in the lay press, the statistical nuances typically get lost.

Now, I don't want there to be any restrictions on information (I'm a proud info junkie), but I would caution all of you to get a good feeling just how infrequently some gene associated with X, Y or Z condition fails to pan out. In the case of APOE4, we have decades of findings that point to definitive risk for AD.

When you do find a gene, SNP or some other genetic factor that you think might be actionable, first ask yourself if the potential actions are really unlikely to do harm, then ask yourself if taking that action is likely to have any side benefits even if it does not help with the specific genetic factor you are trying to address. Injury-free exercise, good sleep, minimally processed whole foods, social connection, mentally engaging activities -- all these really have no downsides. The first finding of an association between some genetic variant you might have and some dreaded condition, I think, is for the hypothesis generation stage. Replication of that finding is where I start taking things a bit more seriously.

In behavioral genetics, which I have been following for a long time, biomarkers are all the rage. Unfortunately, we have seen way to many false starts of groups claiming to have a solid biomarker screening test for depression, bipolar disorder, schizophrenia, etc. To date, not one seems to have made a reliable, clinically meaningful contribution. It is not for lack of trying.

[Harrison]

As an insight into the type of viewpoint used to write this article, this is what the American College of Medical Genetics says about apoE genotyping:

APOE is a susceptibility gene for later-onset Alzheimer disease (AD), the most common cause of dementia. The presence of an ε4 allele is neither necessary nor sufficient to cause AD. The relative risk conferred by the ε4 allele is confounded by the presence of other risk alleles, gender, environment and possibly ethnicity. APOE genotyping for AD risk prediction has limited clinical utility and poor predictive value.

Dr. Mahley's converse argument would be that doctors measured people's cholesterol levels for years before we had cholesterol lowering medications. As others have said, learning about risk factors is a personal decision. But the argument that people so inclined should not find out about genetic risk, especially in the case of something that has two decades of science like apoE, seems like throwing the baby out with the bath water.

[circular]

It's interesting RichardS, it seems to me that physical reality is so complex as to offer extremely few evidence-based certainties. Much of life boils down to how we personally manage the pure existential conundrum of it.

I had just put this work in the Other category. There needs to be a lay summary for it somewhere on the internet.

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