{"id":8992,"date":"2017-10-24T08:00:29","date_gmt":"2017-10-24T08:00:29","guid":{"rendered":"https:\/\/thesocietypages.org\/discoveries\/?p=8992"},"modified":"2017-10-19T18:49:33","modified_gmt":"2017-10-19T18:49:33","slug":"the-social-side-of-genetic-testing","status":"publish","type":"post","link":"https:\/\/thesocietypages.org\/discoveries\/2017\/10\/24\/the-social-side-of-genetic-testing\/","title":{"rendered":"The Social Side of Genetic Testing"},"content":{"rendered":"
\n Stefan Timmermans, <\/span>“Matching Genotype and Phenotype: A Pragmatist Semiotic Analysis of Clinical Exome Sequencing,” American Journal of Sociology<\/em>,<\/a><\/span> 2017<\/span><\/div>\n
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Photo by University of Michigan School for Environment and Sustainability<\/figcaption><\/figure>\n

Consumer genetic-testing\u00a0<\/span>is now available<\/span><\/a> through several companies in the U.S, b<\/span>ut can these tests actually explain your medical conditions? Sociologist <\/span>Stefan Timmermans<\/span><\/a> goes behind the scenes of a clinical genetics laboratory and <\/span>explores how experts study a section of the genome \u2013 called the exome \u2013 to discover the genetic causes (genotype) of a certain disease (phenotype).<\/span><\/p>\n

After three years attending the board meetings at one of the first U.S. academic centers to offer whole exome sequencing, Timmermans found that clinical scientific teams encounter great difficulties when trying to establish the causal connection between genes and symptoms. Sometimes the process is short and clear (what they call a scientific \u201cslam dunk\u201d). For instance, while studying the exome of a 35-year-old woman with retinitis pigmentosa<\/a>, the team found a variant in her USH2A gene. The gene\u2019s location, its rare frequency in the population, and previously published reports indicated that the team had \u201cnailed\u201d a molecular case.\u00a0<\/span><\/p>\n

<\/div> But most of the cases Timmermans witnessed were not that straightforward. He found instead that l<\/span>aboratory geneticists have to balance the information at hand (such as gene sequences and patients\u2019 clinical records), with their disciplinary background, cultural beliefs, and institutional limits. Because they are doing a clinical study, scientists need a quick and accurate diagnosis, which means there is little time for long-term research or speculative debates.\u00a0<\/span>Professionalization also plays a role. Scientists are usually trained under the “one-gene-one-trait” tradition, which compels the team to choose one possible cause and exclude other genetic causes from their report, even when they might think that multiple genes are causing the disease. Finally, personal and moral considerations matter. For example, in spite of the absence of a clear genetic path, the team decided to report a gene only slightly associated with the disease, in part because they felt morally obligated to the family of the patient.\u00a0\u00a0Institutional, moral, and personal circumstances all influence how scientists understand the relationship between genotypes and phenotypes.\u00a0<\/span><\/span><\/p>\n

Patients expect that exome sequencing will define the proper treatment and prognosis, but the process of genetic sequencing is not as clear-cut as it seems. Institutional, moral, and personal circumstances all influence how scientists understand the relationship between genotype and phenotype. In short, even science is a very social activity. <\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

Stefan Timmermans, “Matching Genotype and Phenotype: A Pragmatist Semiotic Analysis of Clinical Exome Sequencing,” American Journal of Sociology, 2017 Consumer genetic-testing\u00a0is now available through several companies in the U.S, but can these tests actually explain your medical conditions? Sociologist Stefan Timmermans goes behind the scenes of a clinical genetics laboratory and explores how experts study […]<\/p>\n","protected":false},"author":1957,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[15,33],"tags":[14907,9212,102544,37334,102543],"class_list":["post-8992","post","type-post","status-publish","format-standard","hentry","category-culture","category-health","tag-sociology-of-culture","tag-genetic-testing","tag-genome","tag-health","tag-social-influence"],"jetpack_featured_media_url":"","_links":{"self":[{"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/posts\/8992","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/users\/1957"}],"replies":[{"embeddable":true,"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/comments?post=8992"}],"version-history":[{"count":5,"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/posts\/8992\/revisions"}],"predecessor-version":[{"id":8998,"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/posts\/8992\/revisions\/8998"}],"wp:attachment":[{"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/media?parent=8992"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/categories?post=8992"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/thesocietypages.org\/discoveries\/wp-json\/wp\/v2\/tags?post=8992"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}