{"id":1251,"date":"2008-01-18T07:43:17","date_gmt":"2008-01-18T12:43:17","guid":{"rendered":"https:\/\/dwan.org\/?p=1251"},"modified":"2019-10-27T07:53:17","modified_gmt":"2019-10-27T11:53:17","slug":"genome-part-1","status":"publish","type":"post","link":"https:\/\/dwan.org\/index.php\/2008\/01\/18\/genome-part-1\/","title":{"rendered":"Genome, part 1"},"content":{"rendered":"\n<p>I just sent a tube of spit to <a href=\"https:\/\/www.23andme.com\/\">23 and me<\/a>.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img loading=\"lazy\" decoding=\"async\" width=\"1280\" height=\"851\" src=\"https:\/\/dwan.org\/wp-content\/uploads\/2019\/10\/DSC05317.jpeg\" alt=\"\" class=\"wp-image-1252\"\/><\/figure>\n\n\n\n<p>23 and me are one of three companies already up and running with &#8220;personal genomics,&#8221; and I&#8217;m getting what passes for a thousand bucks worth of my genome analyzed. You give them a credit card number, they send a sample collection kit, and in short order you log into their web site to see the results of their analysis. Hopefully, they won&#8217;t have broken the &#8220;download your raw data&#8221; feature before I get access. While their web portal is interesting, the potential to use my own data directly is way, way better.<\/p>\n\n\n\n<p>They use a machine from a company named <a href=\"http:\/\/illumina.com\/\">Illumina<\/a>. The experiment provides a &#8220;read&#8221; on both strands of my DNA for a single letter at each of more than 600,000 locations in my DNA. These are locations where we have some sort of evidence that a &#8220;single nucleotide polymorphism&#8221; (SNP) occurs. That is, a one-letter swap that somehow matters in genetics. SNPs are one of the things that count as &#8220;genes&#8221; these days.<\/p>\n\n\n\n<p>For some of these locations, we have pretty good data on physical traits that are correlated with specific letters. <a href=\"http:\/\/www.snpedia.com\/index.php?title=Rs1815739\">Here<\/a> is an example entry in <a href=\"http:\/\/www.snpedia.com\">snpedia<\/a> called &#8220;Rs1815739&#8221;. In this case, the evidence suggests that there is a correlation between particular letter pairs (CC, CT, TT) and whether you&#8217;ll be a better &#8220;sprint&#8221; or endurance athlete.<\/p>\n\n\n\n<p>For the vast majority of the locations, we know next to nothing. They&#8217;ve been identified as variable locations &#8230; but nobody has a clue what affect (if any) they have. By &#8220;vast majority,&#8221; I mean &#8220;more than 99%&#8221;. Seriously, I&#8217;m getting data about myself that will be unwrapped &#8230; project by painstaking project &#8230; over the next couple of hundred years. I plan to crib a couple of scripts from <a href=\"http:\/\/cariaso.livejournal.com\/\">cariaso<\/a> to email me research summaries of my loci of interest every morning.<\/p>\n\n\n\n<p>For the record, there are a bunch of other things that also count as &#8220;genes&#8221; which are not measured by this experiment. This is the one that happens to be really easy to measure in bulk right now.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img loading=\"lazy\" decoding=\"async\" width=\"1280\" height=\"851\" src=\"https:\/\/dwan.org\/wp-content\/uploads\/2019\/10\/DSC05324.jpeg\" alt=\"\" class=\"wp-image-1253\"\/><figcaption>This is the future?<\/figcaption><\/figure>\n\n\n\n<p>The consent letter in the package is telling:<\/p>\n\n\n\n<p><em>You should not assume that any information we may be able to provide to you, whether now or as genetic research advances, will be welcome or positive<\/em>.<\/p>\n\n\n\n<p>So there we go. I&#8217;m &#8220;getting my genome done,&#8221; for a few reasons. Primary among them is that I find myself in the role of explaining this technology to friends, family, and customers. If I&#8217;m going to form some sort of opinion on it, I&#8217;d better be well informed about the whole process. I also have some simple curiosity about the basics of my genetic makeup &#8230; and there are a few &#8220;gotchas&#8221; out there that would let me adjust my lifestyle in my early thirties to increase the odds of living into my late 90s.<\/p>\n\n\n\n<p>So how does it feel? It feels a bit scary, actually. I wasn&#8217;t expecting the degree of approach-avoidance that I felt, looking at that little plastic tube &#8230; and then looking at the fedex envelope to ship it off. I know better than most people that &#8220;genetics is not destiny,&#8221; &#8230; and I&#8217;ve been saying for a long time that more accurate information *always* leads to superior decision making. Still &#8230; do I really want to know about Hodgkin&#8217;s?<\/p>\n\n\n\n<p>Yes. Yes I do.<\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>I just sent a tube of spit to 23 and me. 23 and me are one of three companies already up and running with &#8220;personal genomics,&#8221; and I&#8217;m getting what passes for a thousand bucks worth of my genome analyzed. You give them a credit&hellip;<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[37],"tags":[],"class_list":["post-1251","post","type-post","status-publish","format-standard","hentry","category-genomics"],"_links":{"self":[{"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/posts\/1251","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/comments?post=1251"}],"version-history":[{"count":1,"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/posts\/1251\/revisions"}],"predecessor-version":[{"id":1254,"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/posts\/1251\/revisions\/1254"}],"wp:attachment":[{"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/media?parent=1251"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/categories?post=1251"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dwan.org\/index.php\/wp-json\/wp\/v2\/tags?post=1251"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}