{"id":1781,"date":"2010-03-07T22:57:05","date_gmt":"2010-03-07T22:57:05","guid":{"rendered":"http:\/\/occamstypewriter.org\/vwxynot\/2010\/03\/07\/personal_genethics\/"},"modified":"2010-03-07T22:57:05","modified_gmt":"2010-03-07T22:57:05","slug":"personal_genethics","status":"publish","type":"post","link":"https:\/\/occamstypewriter.org\/vwxynot\/2010\/03\/07\/personal_genethics\/","title":{"rendered":"Personal genethics"},"content":{"rendered":"<p>A long time ago, on a blog platform far, far away, <a href=\"http:\/\/blogs.nature.com\/rpg\/2010\/02\/16\/on-hot-lemon-action\">Richard Grant blogged<\/a> about his delirious experience with some hard-core drugs given to him by <strike>some shady Dutch-Canadian drug dealer<\/strike> Eva Amsen. In the comments, <a href=\"http:\/\/blogs.nature.com\/rpg\/2010\/02\/16\/on-hot-lemon-action#comment-49809\">Austin Elliott suggested<\/a> that Richard may be one of the 10% of Caucasians with deficient CYP2D6 enzyme activity, leading to long lived high levels of dextromethorphan that may result in the transformation of an innocent cough and cold remedy into a dissociative psychedelic drug. <a href=\"http:\/\/blogs.nature.com\/rpg\/2010\/02\/16\/on-hot-lemon-action#comment-49853\">Network-wide genetic testing was suggested.<\/a><br \/>\nThis episode reminded me of a dilemma experienced by a Former Colleague (FC). FC had just read <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12869766\">a paper<\/a><sup>1<\/sup> reporting that a promoter length polymorphism in the 5-HTT gene is associated with the development of depression in response to stressful situations. FC had developed depression during a time of stress some years before, and wondered whether this polymorphism might be to blame. Finding their thoughts returning again and again to this question, FC considered whether it was a) possible and b) advisable to run a surreptitious test on their own DNA.<br \/>\nPossible? Sure. FC&#8217;s lab did lots of DNA extractions and even more PCR. No-one checked the primer sequences FC ordered to ensure that they matched project-related sequences. Adding an extracurricular extraction, amplification and electrophoresis gel lane would in all likelihood have gone completely unnoticed.<br \/>\nAdvisable?<br \/>\nWell, let&#8217;s leave aside the obviously, objectively, unethical use of grant-funded lab supplies and equipment for personal genetic tests. Yes, it would have been wrong, but the unethical spending would have represented an essentially negligible fraction of the lab&#8217;s overall budget&#8230; and anyway, other aspects of the dilemma are much more interesting.<br \/>\nWhat really gave FC pause was the psychological effect of knowing their genotype, even though they understood full well that the association between the variant 5-HTT allele and stress-triggered depression is not absolute, and some uncertainty would remain. Would it change the way they thought about their depression to know that it was quite possibly caused by a single polymorphism? Might it help to mitigate the stigma of poor mental health, and possibly even relieve some of the symptoms? Conversely, if the PCR results ruled out the polymorphism, might FC&#8217;s depression worsen? How might the result affect their future deliberations about whether to have children?<br \/>\nIn the end, after much thought and discussion among friends, FC decided not to run the test. Not for nothing do genetic counsellors undergo so much training, and going it alone just felt like too much of a minefield.<br \/>\nWith the advent of next generation sequencing, more and more of these genotype-phenotype correlations will become apparent. And in labs around the world, anyone with access to a PCR machine could find themselves wondering if the latest finding might just apply to them. Without the usual checks and balances in place that regulate the translation of genetic tests into clinical practice, students, postdocs, and other lab staff are vulnerable to the temptation to tack one extra lane onto their next experiment in order to delve into their own genome.<br \/>\nWould it <em>really<\/em> matter if lab workers could test themselves to confirm that NeoCitran makes them delirious because of a CYP2D6 deficiency? Well, only if they intend to use that knowledge to obtain a cheap, over-the-counter high. But when the results might change the way someone thinks about their mental health, the stakes are raised and we have a very real dilemma on our hands.<br \/>\nThe other issue is that personal genetic testing performed in secret by lab workers potentially leaves the lab open to litigation and other costs. My undergrad department used to get students to extract and stain their own chromosomes in a second year cytogenetics lab, but stopped a couple of years before I started the course when one student was found to have a balanced translocation that suddenly shed light on her sister&#8217;s recent miscarriage. The university department ended up paying for her entire family&#8217;s genetic counselling costs. I could also imagine a scenario in which someone in a similar situation to FC uses their lab&#8217;s equipment and supplies to run a test on their own DNA, is distressed by the results, and sues because they were never told that this is something that you shouldn&#8217;t do&#8230;<br \/>\nHave any readers ever tested their own DNA, either with or without their superiors&#8217; knowledge and permission? Has anyone received any formal training or advice on this issue? I think it&#8217;s going to be a growing problem, and I wouldn&#8217;t be surprised to see it appearing in some research institutes&#8217; employee handbooks and training \/ orientation sessions in the near future.<br \/>\n1) Caspi <em>et al<\/em>, &#8220;Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene&#8221;. <em>Science<\/em> 2003, 301:386-9<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A long time ago, on a blog platform far, far away, Richard Grant blogged about his delirious experience with some hard-core drugs given to him by some shady Dutch-Canadian drug dealer Eva Amsen. In the comments, Austin Elliott suggested that &hellip; <a href=\"https:\/\/occamstypewriter.org\/vwxynot\/2010\/03\/07\/personal_genethics\/\">Continue reading <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":10,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1781","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/posts\/1781","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/users\/10"}],"replies":[{"embeddable":true,"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/comments?post=1781"}],"version-history":[{"count":0,"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/posts\/1781\/revisions"}],"wp:attachment":[{"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/media?parent=1781"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/categories?post=1781"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/occamstypewriter.org\/vwxynot\/wp-json\/wp\/v2\/tags?post=1781"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}