
$100 DNA test imminent - bookofjoe
https://www.marketwatch.com/story/youll-soon-be-able-to-get-a-dna-test-for-100-heres-the-company-behind-the-breakthrough-2018-11-30?mod=hp_minor_pos20
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adenadel
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.wired.com/2016/02/gene-sequencing-goliath-wants-get-
bigger-still/)

[https://www.forbes.com/sites/matthewherper/2014/08/20/flatle...](https://www.forbes.com/sites/matthewherper/2014/08/20/flatleys-
law-how-one-company-became-the-force-behind-medicines-genetic-revolution/)

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dkural
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.

~~~
new299
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...](http://41j.com/blog/2018/11/illumina-consumables-
are-90-profit/)

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e98cuenc
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?

~~~
adenadel
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.

~~~
killjoywashere
> 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.

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

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

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

~~~
killjoywashere
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.

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Real_S
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.

~~~
mmmrtl
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](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.

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StavrosK
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.

~~~
sunstone
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.

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elektor
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...](https://www.biospace.com/article/releases/nebula-genomics-launches-
platform-offering-opportunity-for-free-dna-sequencing-and-control-over-
personal-genomic-data/)

~~~
klohto
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.

~~~
ejstronge
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.

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Gregory_Vines
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.

~~~
new299
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.

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

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

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

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InGodsName
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?

~~~
onetimemanytime
>> _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...](https://www.latimes.com/world/la-fg-india-
database-2017-story.html) ...DNA is the next logical step

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bb101
Gattaca here we come: "Sequence this strand of hair for me will you?"

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

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

I really doubt that you want to do the latter.

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

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cafebabbe
data leak of millions of dna files also imminent, then

