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People with rare genetic conditions are ‘systematically ignored’ by NHS
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RobotToaster mander.xyz RobotToaster@mander.xyz
Joined: 2023-09-13
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Paragone lemmy.world Paragone@lemmy.world
Joined: 2023-12-06
#2 · Quote Reply

IF you may have a rare genetic-condition, & want some leverage in getting the medical-industry to take you seriously,

THEN please consider whether getting 1000x-oversampling genetic-testing ( which is the level that will nail those items with reasonable-certainty ) done.

100x isn't good-enough, from what I've read.

_ /\ _

3
Squirrelsdrivemenuts lemmy.world Squirrelsdrivemenuts@lemmy.world
Joined: 2023-09-21
#3 · Quote Reply

IF you may have a rare genetic-condition, & want some leverage in getting the medical-industry to take you seriously, THEN please consider whether getting 1000x-oversampling genetic-testing ( which is the level that will nail those items with reasonable-certainty ) done. 100x isn't good-enough, from what I've read. _ /\ _

Which genetic testing are you talking about specifically?

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Paragone lemmy.world Paragone@lemmy.world
Joined: 2023-12-06
#4 · Quote Reply

Which genetic testing are you talking about specifically?

Sorry, I'm not too helpful here:

I'd paid-for 100x oversampling testing, & discovered a few interesting things,

but not much I cared about..

There's a vitamin-D affecting gene, that makes one only need a small amount of the stuff, because somehow one's body over-conserves it.

I'd never known about any such condition..

So, for me, a plain multivitamin will always be sufficient, for vitamin-D.


The service I went-with wasn't recommended by others who knew the companies better than I did.

& I don't remember the one they did recommend.

Not the 23andMe shit, but the next level up..

Maybe ask several LLM's to find some, & compare/contrast their results, in order to get current view?

Sorry I couldn't help better..

_ /\ _

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