@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.
Why is it not interesting? It's very practical. Off the top of my head: a genetic variant isn't going to go away, strongly implying the SCD risk is permanent; it implies that the rest of his family is at risk and needs testing; and it is relevant if he is considering kids (PGD).
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I dunno about you, but the question of 'was this a freak event, perhaps exacerbated by lifestyle, or do I have a drop-dead-out-of-nowhere gene which my kids and family might also have?' seems *very* 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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