@asymmetricinfo re your friend: it's not a direct answer but "A Prospective Study of Sudden Cardiac Death among Children and Young Adults" https://www.gwern.net/docs/genetics/heritable/2016-bagnall.pdf … , Bagnall et al 2016, might be interesting.
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They're trying to distinguish between "freak event", "known genetic issue", or "other undiagnosed condition"; establishing/ruling out the genetic issue is important.
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I agree.
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In all of those cases (including "freak event"), the course of treatment for someone with an elevated risk of SCD is the same - defibrilator implantation. Having an SCD is evidence of an elevated risk of SCD. Your friend needs a device. Knowing why is academic.
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The risks to family members and future children is relevant, but I hadn't been considering that, and I expect neither has he.
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It's probable he has: it's one of the common responses to SCD - start screening the relatives once a genetic cause is suspected or confirmed. Often changes diagnosis of previous relative deaths, too.
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(Honestly, considering how cheap WGS is and how many unexpected SCD cases are genetic and how many QALYs can be lost, it probably makes a lot of sense to just WGS all near-relatives to keep the genomes on file to recheck whenever new heart-related hits surface.)
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Apropos NYT article: https://www.nytimes.com/2018/10/16/health/genetic-testing-mutations.html … Note the example at the bottom - he completely reorganizes his career path in response to the genetic, rather than merely phenotypic, information. (Knowledge is almost always preferable to ignorance.)
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Good article, thanks. Garrison changed his plans after genetic testing confirmed he is at risk for developing cancer. Megan's friend is at risk for SCD, and knows it already, and should plan accordingly; this is true regardless of what else any genetic testing might show.
End of conversation
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