‘Key player’ identified in genetic link to psychiatric conditions
cardiff.ac.uk
cardiff.ac.uk
Paraphrasing Einstein our capacity for increases in human knowledge far outweighs our capacity for increases in human compassion.
Most people don't do that for STIs today so why would they do it for genetic predisposition of heritable diseases?
The ethics of this as a situation was taught by watching and discussing Gattaca, a movie from 1997.
Certainly not a new idea nor concern. It is a reality, though not quite widespread. Perhaps we will open new societal cans of worm through mass-market, rapid screening. As I write this, somewhat reminds me of the internet.
Maybe your fear that new tech will be used for evil is coming from all the negative articles which immediately jump to assuming things will be used "for evil".
1. https://slatestarcodex.com/2018/12/11/diametrical-model-of-a...
EDIT: Also, given that schizotypal personality disorder scores similarly to autism in recognizing human facial expressions, I'm not entirely sure where the author in the link is getting the depiction of a schizotypal person being particularly socially insightful through an examination of facial feature (the provided example being how to extrapolate from an eye twitch).
I generally recommend against reading primary liuterature or the PR around it and immediately checking genetic tests to see if you "have this disorder". IN complex diseases, many genotypes have low penetrance (IE, the genotype variable is only weakly correlated with the phenotype label), and diseases like this are complex, polygenic, and any individual mutations only partially explain the visible phenotype.
Btw fully agreed with you on the points of complexity and regular people misinterpreting their results following the PR hype.
If you did WGS (whole genome sequencing), you might be able to take the VCF files (or the FASTQ) and, hopefully, their mapping process did an accurate job computing your individual genotype. However, in cases like this with CNVs and indels, I wouldn't really trust the assembly. MOst of the tools that we built to produce genotypes get a lot of the details of the mapping or assembly wrong. You could do a lot better if you had your genome sequencing using both long and short read tech, and used the long reads to make a reliable scaffold and then mapped the short reads, but with CNVs, much of that is still guesswork.
I would expect "everything" you need (except for long reads) is here for you to determine if the owner of that genotype (I can vouch for them...) has the genetic alterations described in this article (https://www.nature.com/articles/s41467-019-11119-7) after performing some sort of magical rat/human remapping (tricky) or referencing off of https://www.omim.org/entry/615656
I would be impressed if somebody could actually make a clinically actionable recommendation for this genome, as Illumina described it as have zero known risk.
Can't you use the existing reference human genome as a scaffold?
Wakefield's "study" led to a decline in vaccination rates in the US, the UK, and likely several other countries, and has resulted in serious illnesses and deaths.
I get it but there are dozens of not hundreds of people who have put in decades of work each to discover and enhance our understanding of this gene and its medical links - they would be better candidates. Or perhaps they could choose to name it.
But celebrating a fraud and "fake news" founder ... even sarcastically does not sit right with me.
Happily I saw a dog turd on the street a while back - we could name that after Wakefield. Perhaps put it on Google maps.
And especially in todays search engine driven world of "self education" that could be amazingly effective.