Ask HN: What's the state of consumer genomics in 2023? | Hacker News Reader

Ask HN: What's the state of consumer genomics in 2023?

16 pointsKratacoa5 comments

Over the past two days I've got interested in the topic, and I can find a lot of information from around 2018.

However, I've been unable to find a comprehensive, detailed recap of the situation as of 2023, from someone who beholds a modicum of authority on the topic. Surely things must have changed (e.g. cheaper sequencing devices), and I'm just bad at finding the information?

Goals I'm interested in: sequencing accuracy, quality of diagnostics, privacy, genealogical features. For what it's worth, I'm based in Europe.

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>I can find a lot of information from around 2018

I would guess that's because this was just a passing fad.

Genetics is an extremely complex topic. And we still don't know a lot of things.

This is why I think nobody was able to create something useful for consumers.

For accuracy I think the 'next generation' methods are pretty good. Especicially when we talk about reference-based sequencing. This is the case when we already have an assembled genome when can use to compare our new data.

For diagnostics it's not that useful when we talk in the context of a large population. There are some diseases associated with some single nucleotide mutation (SNP [0]). The is that in most cases we don't have a way to reliable to say "mutation X causes y". In general the medical history of your family is way more useful than any genetic testing.

For privacy this is a nightmare.

For genealogical information they don't provide anything meaningfull.

[0] - https://en.wikipedia.org/wiki/Single-nucleotide_polymorphism

> The issue is that in most cases we don't have a way to reliable to say "mutation X causes y".

Why? Do you believe that it's mostly futile to use the SNP markers as clues for further exploration?

It is getting cheaper for some things but with a few exceptions the underlying science isn't changing a lot, which is why the offerings aren't changing a lot from 5-10 years ago.

My sense is that whole-genome sequencing is going to see the most changes in price in the next few years but without competition at the consumer level you might not see those changes trickle down. It's also currently unclear what to do with the whole genome data at the level of a consumer.

If you search for reviews using terms like "best DNA tests" you can find some recent consumer reviews that focus on different applications. Some of the reviews them have an eye on privacy issues and things like that but not all.

Regarding the accuracy question, I have a pretty recent article: https://mfasold.net/blog/assessing-nebula-genomics-dtc-wgs/

I'd rather say that patients are enjoying the improvements in healthcare. As for consumers, there's new 'precision medicine' startups here and there. Most on early stages, I will leave the googling and judging to you...

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