$100 DNA test imminent | Hacker News Reader

$100 DNA test imminent

marketwatch.com

64 pointsbookofjoe50 comments

This is not a great article. If you're interested in Illumina I think these are better

https://www.wired.com/2016/02/gene-sequencing-goliath-wants-...

https://www.forbes.com/sites/matthewherper/2014/08/20/flatle...

This article written by a non-expert. The cost of genome sequencing has been relatively flat in the last couple of years; and Illumina, being the monopoly, has no incentives to reduce the cost of sequencing. Also; despite what some commenters seem to think, it doesn't get to keep the data people sequence on its devices, any more than your printer company owns the content of what you print.

One would likely get sequenced many times over a lifetime - a so-called "liquid biopsy", meaning sequencing circulating DNA & tumor cells in your blood, can catch aberrant cancer-related mutations earlier and help predict cancer / catch it earlier. Once this is mature, people will likely take this test every 5 years etc.

I think the BGI/MGI will probably provide an incentive. Recent reports suggest that their instruments are starting to produce reasonable data (80% > Q30).

Illumina have ~90% [1] markup on consumables. They can afford to reduce their price to $100 per genome (and have said they will). With the pressure applied by the BGI I can certainly see this happening.

[1] http://41j.com/blog/2018/11/illumina-consumables-are-90-prof...

It seems the total value Illumina can extract from DNA tests will be limited.

Doesn't a 100$ test put a cap of 100$ per person?

Once sequenced, you don't need to sequence your DNA again, right?

There are reasons to sequence an individual multiple times: tracking their microbiome, tracking the genetic evolution of their tumor, looking at gene expression, etc. There's not much value in sequencing someone's genome over and over again though.

Additionally, there's a lot more to sequence besides just human. Illumina does genotyping for agriculture, they supply 23andme and Ancestry with their SNP chips, sequencing for forensic applications, etc.

> There's not much value in sequencing someone's genome over and over again though.

There's plenty of value to each custodian that gets their own copy though, just like every cloud company wants their own copy of your name, email, and physical address.

Sure, but IMO it would be silly for another player to sequence you again rather than negotiate access to the data.

Ah, I see you're not in medicine. Physicians will repeat studies of arbitrary cost at the drop of a hat.

But in those cases, they are actually looking for changes. For germline WGS there are no differences.

a) we generally don't have access to the records of any other health systems in the area.

b) we generally assume the older data is stale. In the case of omics: did they keep the unaligned reads? What version of the genome was it aligned against? Was it a graph alignment? What depth? Did my geneticist approve of this methodology? The SNP evaluation? The variants? This goes all the way down. They'll question what generation of instrument produced the data, the duty cycles on the instrument, and on, and on, and on.

Agreed. The somatic genome changes a tiny amount every cell division (1 miscopy per 100 million bases) due to spontaneous mutations, gene expression and occasional recombination. These may be useful for diagnosing disease and determining effective drug treatments.

I wonder if DNA can change later in life through some mutation or gene expression.

Your germline doesn't change. However you can acquire somatic mutations.

Plenty of epigenetic changes though. It's all about the multi-omics these days.

It'll be interesting to see if other things are sequenced as well. Histone mapping comes to mind. Histones are responsible for packing the DNA and exposing different segments. This is one major factor in why we have some many different types of cells with the same DNA.

You could also sequence bacteria, viruses, tumors, and many many more. It could also impact agriculture as well. Once sequencing becomes cheap enough, I think it'll extend far beyond a one and done test per person.

Isn’t the genome data of millions of people worth something? I am sure they will figure out a way to make tons of money out of that.

Population sequencing projects have already starting popping up. The prototype is the 100k Genomes Project in the UK

https://www.genomicsengland.co.uk/about-genomics-england/the...

and there are many other similar efforts underway.

I would be more confident to share my DNA with NHS than a Silicon Valley startup.

There are 7 billion people.$100 a test is a $700 billion market. Sounds pretty good to me.

Fun fact: that's slightly less than the DoD's annual budget.

I really like how this article was written. This is often hyped as the $100 genome sequence, but as the article frames it, its more of a genetic map for $100.

Very promising tech, but we still have a ways to go before the $100 full-genome sequence. Until then, genome-wide mapping for $100 will lead us to further breakthroughs.

I don't understand what you mean by this being a genetic map, this seems like an unrelated concept: https://en.wikipedia.org/wiki/Gene_mapping

This article is definitely about the potential to sequence people's genomes for $100. Part of the confusion may be that a process called mapping is a necessary step to figure out where each of the hundreds of millions of ~200 nucleotide reads for a genome came from - you "map" them back to the human reference genome for comparison.

What's the status on sharing this data? Will I have my genome sold to marketers if I do this, or will they delete their copy right after?

At least I'm in the EU, thank god for the GDPR.

Yes this is the biggest issue. If I can send off my DNA with a $100 bill and get a computer generated report encrypted and sent back to me with no trace left behind of my DNA or identity then, sure. Otherwise, I can wait.

You can already get a free DNA test if you're willing to donate your genomic data.

Source: https://www.biospace.com/article/releases/nebula-genomics-la...

Or sign up for All of Us: https://allofus.nih.gov/

I have registered for All of Us but have yet to be called in for an in-person visit. I live in central NJ but it seems the closest medical centers are in NYC.

Have you had a chance to do so?

Of course, Google is the one going to be handling our DNA data through an innocuous sounding subsidiary.

tbf their website is marketing 0.4x genome coverage for $99 coverage, and the "possible free sequencing and other rewards" is all research-institute-interest dependent.

which makes me feel better about the (obviously also subsidised by potential research use) $199 full genome Black Friday deal I just ordered...

$199 full genome Black Friday deal

That's an amazing sequence of words.

in a Black Mirror kind of way, possibly :-D

Sadly you do not have access to the raw data (BAM File) for the $199 deal if you read the fine print

If I find the VCF insufficient I can always pay another $60 for a disk with the BAM file on which still works out as better value. Am more worried about their less than stellar customer service reputation tbh.

Not entirely true as it might sound.

I joined the program a week ago. Did all surveys and I'm currently sitting on 550 credits. To qualify for a their main genome sequencing, "Low-pass Whole Genome Sequencing (0.4x coverage)", you need 1000 credits or $99. But if you want whole genome sequenced, you need to order their flagship product, "Clinical-grade Whole Genome Sequencing (30x coverage)". Which is greyed out on their website currently. And I'm not even going to guess how many credits is that going to cost.

Thank you for the clarification. I've been on the fence about it and it sounds like I will have to wait a little longer before committing to it.

As a point of reference, the rate for ~30X human whole-genome sequencing is about $1,300, though this number depends on a few factors like the sequencing machine one uses.

You missed the Black Friday $199 WGS offer from Dante Labs.

https://us.dantelabs.com/blogs/news/dante-labs-black-friday-...

In addition to the variant containing VCF file, on request they offer the raw read data on hard disk in FASTQ and BAM format (mapped I presume).

Oxford Nanopore is the disruptive company putting pressure on Illumina. They're racing to the $100 genome and Nanopore is the newer, cheaper tech that Illumina is trying to mimic.

Illumina is a bloated monopoly that hasn't lowered its prices in years. They are anti-innovation.

Oxford Nanopore is currently far more expensive and lower quality than Illumina sequencing. A single minion run costs $500. It doesn’t even provide a single x1 complete human genome.

You can currently get a complete x30 human genome using Illumina or BGI sequencing for similar cost.

It’s not clear that Oxford Nanopore can reduce costs. It’s not even clear to me that the Minion runs are currently sold at a profit. The chips are quite big, and not easily reused. Fabrication costs are likely significant.

Is $100 the cost the real cost or is it subsidized by keeping your data?

> Illumina’s sales mix is the secret to its success.

So this prediction is based on business principles, not new technology? I'm skeptical.

In India/China with population in Billions, these tests aren't available or affordable.

No company is building Genome Databank through user-friendly collection of saliva.

I don't know why 23andme doesn't have local offering in India.

Who will courier sample to an international lab? Specially, from a country like India where sending anything out or importing in is just too difficult.

23andme isn't expensive for me but they don't offer pickup service in India?

There actually hundreds of companies doing this in China; but much fewer in India.

>>In India/China with population in Billions, these tests aren't available or affordable.

Probably the government will be offering them for free--and mandatory. In China, I'm almost certain that it's just a matter of years. Driving license, passport? Let's swab a bit the inside of your cheek.

India also has https://www.latimes.com/world/la-fg-india-database-2017-stor... ...DNA is the next logical step

Gattaca here we come: "Sequence this strand of hair for me will you?"

Is it possible to alter your DNA to make identity impossible?

Are you talking about a sample or the DNA in your body?

I really doubt that you want to do the latter.

General identity, not facial, etc. Think of it like changing a username.

Not there are several vastly different genetic identity tests. You would game each kind differently.

The oldest was blood types. This can in sone, but not all situations exclude paternity. Next more detailed is antigen matching for transplants. These have a hereditical character.

Police forensics use about 30 markers in the non-coding DNA. Good enough for identity matching, but not for disease or ancestry.

The ancestry companies look at seceral thousand markers via custom silicon-biochemical chips.

Then there is exome full sequencing. This is just 2% the codes for protein.

Finally full sequencing of 90%+ plus of all bases in the genome. Depending on the techniques some have difficulty with repeated DNA sequences, usually in the junk areas.

data leak of millions of dna files also imminent, then

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