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Friday, November 15, 2013
Health / Nutrition ... Practical Advice ...

I decided to join the “consumer DNA testing” revolution not long ago, and my results just came in. Yes, I joined the crowds that have went with 23andme.com, currently the most popular consumer DNA testing service (although I might also do business with FamilyTreeDNA in the near future, given the respect they appear to have from the genealogy community). With 23andme, you get a double DNA whammy — you get both a health report AND a genealogy report. All for $109 bucks ($99 plus $10 shipping for the spit sample). Most of the competitors right now focus on one or the other.

I’m going to share some thoughts right now on how to “take” the DNA health results (not on how to “take the test”; that isn’t too hard, although you do need to be careful about getting enough spit in the tube and closing the vial properly before you put it in the shipping box). This is new and weird stuff, i.e. the idea that your body characteristics and your present and future health can be predicted by certain single nucleotide polymorphisms (“snips”) from your genes. It has the potential to be both upsetting and reassuring at the same time. Unless you are really at peace about your life and totally reconciled to whatever your future is (and my hat is off to those of you who have actually attained such a state, whether thru meditation or religious faith, or just-don’t-care-no-mo), there is going to be some stress when you get the results. 23andme even displays a page asking you before you look whether you are ready for this, or do you want to just ditch the whole thing and pretend it didn’t happen (you would still get your genealogy reports, which is really why I got tested anyway).

Next, there’s another blood pressure raiser: for certain conditions, including the BRCA gene, Alzheimer’s, and Parkinsons Disease, your results are initially “locked”. You see the condition listed on the summary page but not the results. You have to read a summary about the health condition in question, and then hit another button saying in effect, “I’m sure I really want to see this, even though it might be bad and there’s not much that can be done to avoid it”.

Don’t freak out (as I did) just because you have to go thru all of this. It doesn’t mean that the results are necessarily bad. They do this for everyone, regardless of whether the news is good or bad. My results for these were good, or as good as possible (“typical risk”). Thank goodness!

Despite 23andme’s meritorious efforts to explain what these test are all about and what their limitations are, and to suggest genetic counseling if any questions or anxieties remain, it’s still pretty hard to put a report like this into context. A lot of medical experts disagree as to whether consumer DNA health testing is good or bad (obviously 23andme.com likes to quote the ones who say that it is good). The most reasonable opinions say that SOME of the results are relevant and useful, but a lot of what you will see is really not (or even misleading). Many of the results really don’t give you much insight about your body despite all the technical mumbo-jumbo (e.g. you have variant AT for gene BY398Q at location rs4800864).

It’s good to keep in mind when viewing DNA results that very few tests for one small and particular spot on a specific DNA chain mean that you absolutely have a disease or a condition or a trait. Even eye color can’t be nailed down; my report said that I had eyes of blue (if only!). What you are seeing generally means that some medical research group did a study which noticed that this particular DNA snip variant was present in someone with this disease or condition more often than the other one or two other possible variants at that gene spot (or sometimes LESS often, implying lower risk). There are still a whole bunch of other factors, both in terms of DNA and in terms of environment (including how well you take care of yourself and what sort of stresses you are exposed to), that finally determine whether you get arthritis or gallstones or go bald or get skin cancer.

Even with regard to DNA, most of the conditions appearing on the health report are usually just one in a mix of many other DNA gene segments that contribute to the final outcome. And 23andme usually only tests a few of the many possible gene segments that influence a disease or a condition. Why? Mostly because the other segments haven’t been discovered yet! The whole DNA – disease process is still in the early stages of research and understanding. But in some cases, there are also legal restrictions. For example, recall the BRCA gene that caused Angelina Jolie to get a voluntary mastectomy. There are thousands of “snips” that can be tested on that gene, and it cost Ms. Jolie around $4000 to get them all tested. Only one company (Myriad Genetics) has the rights to test all of those “snips”. 23andme.com can only test around 10 “snips”, the ones that were known before Myriad got around to discovering and patenting them. Arguably, the ones that 23andme and other companies can test are the most obvious suspects; but still, it is humbling to know that a $99 test from 23andme.com cannot fully cover even one important gene — not even close!

And even DNA and genes are hardly the whole story; medical research now points to the importance of “epi-genetics“, especially the methyl molecules that help to manipulate the DNA, i.e. turn a gene on or off. And that part of the DNA mechanism is determined more by what has happened in your lifetime and possibly in your parents lifetime (some methyl effects may be inherited from parents, the research on that is still not final). And then, even after known genes and unknown genes and epi-genes, there is still the physical environment, including your nutrition, your exercise habits, your stress levels, and your psychological well-being. The 23andme.com explanations for each test result give an estimate as to what percentage of a condition is determined by genes and what is determined by the environment. E.g. for some conditions the DNA percentage is high, maybe 2/3; for others, such as colo-rectal cancer, the environmental portion is thought to be greater than the DNA portion.

I’m not an expert on DNA nor medical statistics, but I did take several general courses in college and grad school on statistics and their use, and so I know that the big problem with statistics for complex systems (like the human race and its DNA) is always trying to ferret out what really should be noticed from what is probably just random variation. A LOT of what 23andme.com gives to you on a health report (over 200 disease, disorder, or body trait situations are reported on) amounts to noise, for now anyway. You have to use your own judgment in figuring out what should be noticed, and on what you may want to follow-up on with your doctor. (But it is also a good idea to give all the results to your doctor and let her or him help you figure out what is important and what is not).

The 23andme health report DOES do some sorting for you. They split the risk factor reports into three groups: above average risk, average risk, and below-average risk. (And they make it clear that just because you get a below-average score for some disease, does NOT guarantee that you won’t get it at some point; again, this is all statistics, not diagnosis). And within each category, you see the “4-star” things up at the top. These are results that are confirmed by multiple studies, and which you have a significant overall elevation in 23andme.com’s estimate of your relative probability (e.g., your overall lifetime chance of getting a disease is 8%, while the general population is 6%; so your relative risk factor is 8 / 6 = 1.33). In order to fall into the “above average risk”, it appears that 23andme’s cut-off for relative risk is 1.20. Anything higher than 1.2 and it is termed “above average”. Between 0.8 and 1.2, it is put in the “average risk” column. If risk is below 0.8, then it becomes “below average risk”.

This is a little bit arbitrary, given that some of the reported diseases are quite rare. On my report there were several conditions that happen to less than 1% of the population. So if my probability increases by say 40% (risk factor 1.4), then my overall chance might go from 0.3% to 0.42%. Sorry, but that just doesn’t seem too important. But if my relative probability increases by 15% (1.15 factor) on something with a base population probability of 35%, such that my risk goes up to 40%, well, I would like to notice that. This DID happen to me for an important type of cancer; my relative risk was 1.19, just under the 1.2 threshold, so this disease appears on the “average risk” list. But the cancer in question is fairly common (although thank goodness it has a large environmental component, you can do things to keep it from happening); so it was a good thing that I didn’t just trust the “average” ranking and ignore it.

Another interesting thing about my health results, which put the whole state of DNA medicine into context: I got a number of “false positives” on the “high probability” list. According to 23andme, I have relatively high chances of having asthma, migraines and bipolar neurosis. Sorry, but this just didn’t happen (as to being bipolar, I admittedly have my moods; but I really don’t think that they come close to clinical bipolarism). There were also some things on the traits list that were strikeouts (such as the aforementioned eye color prediction, and a strange birth defect that I didn’t get). Admittedly, there were some hits, such as hair type and caffeine metabolism speed.

Overall, I was pretty lucky with my results. I didn’t get any warning signs for Alzheimers or Parkinsons Disease or prostate cancer, and I don’t have any BRCA mutations (at the 10 or so places on the gene that 23andme checks; BRCA is very serious for women, but also implies an elevated risk for prostate and other cancers for guys). There are three conditions that made my own cut for future attention, but even one of these is contradicted by a preliminary study result on the 23andme list (where I got a BELOW AVERAGE RISK result; and the study in question, i.e. the Framingham Heart Study, was very well regarded by the medical establishment, even if the particular gene segment that it tested has not yet been confirmed by later studies). All three of these conditions can be helped by good living, i.e. exercise, good diet, and good psychology. And I had no sign of any of them at my last physical this past July.

Another big consideration regards privacy issues from having your DNA tested. Some people have serious concerns about 23andme’s privacy policy. One very informed source is concerned that 23andme will use your genes and your personal info to help them develop and market ways to make money by selling advice on how to design perfect babies (thru sperm and egg banking, with DNA pre-analysis and subsequent selection of the best combination for in-vitro fertilization). I have not answered any survey questions and have not consented to use of my information to assist 23andme studies, as they request when you sign up. I also requested that my DNA sample be destroyed after testing (they give you this option, but ask that you let them keep your sample for 10 years or more). Hopefully under Obamacare, there aren’t any dangers of health insurance companies using voluntary DNA results against you. Hopefully.

Finally, on a less grave note — 23andme.com’s corporate logo still makes me think of band aids! I know that it is supposed to look like a DNA molecule, of which we each have 23. But I still like to think back to those red and green band-aids that we used as kids for little scuffs and scrapes from our play episodes (or fist fights! Childhood does have its violence, perhaps it is in the genes). And NOT about genetic destiny in my old age.

But for now, it’s (hopefully) a matter of keeping an eye out for the future on 3 things, knowing a little more about what to watch for. I do plan to discuss these with my doctor, but I won’t rush to see him; early next year would be about right. Till then, back to daily life. Sweet, sweet daily life! (Seems all the more sweet after you stare down into the DNA abyss!!!)

UPDATE, NOV 26: The U.S. FDA just busted 23andme.com for selling health tests, because the FDA believes that the 23andme test and its results have the nature of a “medical device”. This means that the FDA requires that 23andme provide documentation showing high levels of accuracy for any gene test result that it cites as a predictor of present or future health status, before 23andme can start selling health results again (it can still do genealogy). For $99, versus $500 to $3000 for a real medical diagnostic DNA test meeting FDA standards, it seems doubtful that 23andme’s tests can meet this standard.

Interestingly, various official comments on the 23andme site appear to tacitly admit that its testing results are a bit spotty. I.e., not uniformly at the highest level that technology would currently allow. For example, in a discussion board regarding exfoliative glaucoma, a 23andme.com user suggested that the site should report a different and arguably more a relevant gene segment result, in lieu of the marker that the site does report in regard to risk of exfoliative glaucoma.

In response, a 23andme staff person said that 23 does test this marker and that any customer can look up their results for it. However, the staffer says that the quality and reliability of the result for this particular gene is somewhat questionable. I.e.,

In this case, even though you can download the raw data, the quality of the calls for this SNP doesn’t meet our stringent criteria for inclusion in a report. That disappoints us as much as it does you, I promise, but we’d rather not include it than give you a wrong result . . . the data quality concerns remain . . . .they are a real concern that prevents us from reporting on everything we might otherwise want to report on.

Also, regarding cystic fibrosis, a recent announcement by 23andme says that it has removed a marker from the cystic fibrosis risk summary, “because our ongoing quality review processes determined that genotyping data for this marker may not be reliable.”

The whole 23andme sales pitch did seem too good to be true. I.e., that for only $99, 23andme.com offers genealogy and a high quality report (using the most accurate testing technology) regarding how one’s dna influences one’s health. I do NOT believe that the health report that 23andme provided me is entirely worthless. But it indeed is not quite what one might have hoped for, when one’s own health and well being are on the line.

◊   posted by Jim G @ 3:11 pm      
 
 


  1. Jim, You’ve done a nice analysis of your DNA results. (And I’m sure you can hear the “but” coming.) I find myself wondering just what the value of this whole thing is. It seems to me that most of this is statistics – “there’s such and such a percentage that the person may develop this or that medical problem”; and thus, the person becomes frightened and worried about this or that medical problem that *might* develop, or might *not* develop. (The last part somehow gets left out in the worry factor.) As regards statistics, I find them really unreliable when it comes to making predictions for a particular person. They are OK for large groups of people, but for individuals? I think not.

    As I was reading this, (on a homegrown or common sense prediction level) I tho’t of the fact that I have always considered that my mother cloned me; I am so much the way she was in a medical/physical sense, yet not in a psychological sense. It *is* true that many of the same medical problems she had, I have had. And here’s the “but” again: When I boil it down to what she had and what I’ve had, an odd thing happens. First, she and I had the same things in a very different order. And perhaps most significantly of all, there were all the things she had that I have *not* had (or vice versa, however one wants to look at it). If I had to put number to it, I’d say the difference in what she and I had and did not have was about 50%.

    So there you have it, flip a coin. So much for statistics.

    I find myself wondering just what the connection between 23andme.com and insurance companies and pharmaceutical companies may be. I also wonder how many people have spent $4000 to find out if they have the BRCA gene, only to find out they did *not*, regardless of the fact that Angelina Jolie having had a double mastectomy because of her results. I wonder just how much money the 23andme.com, insurance companies, and pharmaceutical companies will make over time with this DNA information. (And I find myself wondering about what companies I don’t have a clue may yet profit from the information gleaned from DNA results.)

    Somehow in all this, pondering all the people who die very young (all one has to do is think of the many very young people who are killed in cities from random gun shots for one example, automobile accidents for another), all the people who die in middle age, and those who live long lives, I find myself wondering if there isn’t something more intangible, mystical, spiritual (choose the word that best suits here) that’s involved in when and how a person dies. I’ve read in some spiritual books that a person actually “chooses” when he/she will die.

    Strangely enough, I’ve had that experience, which I think back on often. It was just a few years ago. I had a dream that a loved aunt of mine, who died long ago and whom I had not tho’t of in a very long time, was holding a door open for me. I knew in the dream that if I walked through the door, I would die. I was not afraid; I was not happy; it was simply a choice for me to make – step thru the door or *not* step thru the door (presumably to the next world). At the time, for a reason I did not really understand, I chose *not* to step thru the door. And sure enough a few months later the choice presented itself in the form of an emergency situation – one that my mother had never had. Thus, the “flip a coin” of common sense statistics. Somehow or other I survived that situation. I even had an argument with the doctors later at why they had not let me die. But I tho’t back to the dream – here on some level had been my choice, and I chose *not* to die at this point. I find myself wondering just what yet I must accomplish in this life. Perhaps *that* is the reason for the choice.

    Then too, I’ve seen similar things happen in other people’s lives, a recent one was Valerie Harper who was told she had 3 months to live because of brain cancer. Yet she “had her day” on “Dancing with the Stars”. She may not be doing too well right now, but she’s already beaten the stats the doctors gave her. I’ve seen too many things like this in my life to put a lot of trust in statistics; when it comes to individuals, statistics are simply a crap shoot.

    So, yes, we definitely *will* die of something. However, predicting from what it will be is another story and predicting when it will be is another story. Perhaps our choice is built into our life from the beginning – and thus that choice shows up in our DNA. MCS

    Comment by Mary — November 16, 2013 @ 10:35 am

  2. Jim, A “P.S.” of sorts: Now that I started thinking of the psychological, I find myself really going out on a limb and wondering if the psychological may be built into our DNA too. I’ve often noticed that in many ways regarding the “mind” (so to say), I’m very like my father; physically I’m like my mother – flip a coin on that, I say, as above. (It would probably be the same regarding the “flip a coin” and the psychological – some things in the DNA, yet the combination of where and when and how they manifest is another thing entirely.

    Yet I wonder just how many centuries or millennia it will take for scientists studying DNA to think in terms of how the mind of the person is inherited from one’s parents/ancestors. Why do some people have an inclination toward certain periods of time or certain areas of the world rather than others? Could it be something remembered from a previous life? Or is it in the genes from one’s ancestors, no matter how far past?

    Now wouldn’t that be interesting to find that even the psychological is inherited or – as I sometimes think – chosen by the person to be built into the DNA before one takes on life on this earth. I realize I’m really thinking out of the box on this one, but I’m still intrigued; and I don’t know why it could not be a possibility. MCS

    Comment by Mary — November 16, 2013 @ 11:53 am

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