{"id":3820,"date":"2013-11-15T15:11:50","date_gmt":"2013-11-15T20:11:50","guid":{"rendered":"http:\/\/jimgworld.com\/blog1\/?p=3820"},"modified":"2013-11-28T09:40:51","modified_gmt":"2013-11-28T14:40:51","slug":"dna-health-testing-some-thoughts-and-tips","status":"publish","type":"post","link":"https:\/\/jimgworld.com\/blog1\/?p=3820","title":{"rendered":"DNA Health Testing, Some Thoughts and Tips"},"content":{"rendered":"

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<\/a>). 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. <\/p>\n

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). <\/p>\n

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”. <\/p>\n

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!<\/p>\n

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>. A lot of medical experts disagree as to whether consumer DNA health testing is good or bad<\/a> (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<\/a>, but a lot of what you will see is really not (or even misleading<\/a>). 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).<\/p>\n

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. <\/p>\n

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<\/a> 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!<\/p>\n

And even DNA and genes are hardly the whole story; medical research now points to the importance of “epi-genetics<\/a>“, especially the methyl molecules <\/a> 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.<\/p>\n

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<\/a> and let her or him help you figure out what is important and what is not). <\/p>\n

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”.<\/p>\n

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.<\/p>\n

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.<\/p>\n

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<\/a>, 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. <\/p>\n

Another big consideration regards privacy issues<\/strong> from having your DNA tested. Some people<\/a> have serious concerns about 23andme’s privacy policy. One very informed source<\/a> 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.<\/p>\n

Finally, on a less grave note — 23andme.com’s corporate logo<\/a> 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.<\/p>\n

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!!!)<\/p>\n

UPDATE, NOV 26: The U.S. FDA just busted 23andme.com<\/a> 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. <\/p>\n

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>, 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.<\/p>\n

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.,<\/p>\n

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.<\/p><\/blockquote>\n

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.”<\/p>\n

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.<\/p>\n","protected":false},"excerpt":{"rendered":"

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 […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[16,31],"tags":[],"_links":{"self":[{"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=\/wp\/v2\/posts\/3820"}],"collection":[{"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=3820"}],"version-history":[{"count":11,"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=\/wp\/v2\/posts\/3820\/revisions"}],"predecessor-version":[{"id":3822,"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=\/wp\/v2\/posts\/3820\/revisions\/3822"}],"wp:attachment":[{"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=3820"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=3820"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/jimgworld.com\/blog1\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=3820"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}