New exome testing $400

[aquariusgirl]

Hi Wondering if anyone has looked into this new exome testing from Genos for $400?

https://dna-explained.com/2016/11/27/genos-a-medically-focused-dna-exome-test/

For a few more $$$ they will provide someone to interpret it too it says .....

 

[alicec]

I've ordered a kit which has just arrived. Will post when I have results. I paid USD350.

 

[Valentijn]

To clarify, it is whole exome sequencing. I was wondering since it said it was targeted at diseases (which could be interpreted to mean it just looked at parts of the exome documented as causing problems).

Coverage is 75x, which is quite good. It includes 50 million SNPs, which would cover all of the exons and a fair bit of other stuff as well ... presumably regulatory regions?

It doesn't look like the genetic counseling offers much of use, unless an actual diseases turns up and you need help on what to do next. More likely they'll spend most of their time reassuring people that minor increases in risk factors aren't anything to worry about But $150 per hour is a pretty reasonable price, compared to other services.

It looks like it automatically includes research-related data pulled from a couple databases. The genome map software looks pretty good too. And they say the research used to generate the data gets updated regularly, so presumably there would be ongoing online access to it somehow?

It looks like the people creating Genos also founded Complete Genomics back in 2006. Complete Genomics was bought by a global genetics firm based in China, and laid off a lot of employees in 2015 when the parent company changed the direction of Complete Genomics. But the people involved with Genos do have an established track record in genomics services, which is reassuring.

 

[aquariusgirl]

Bump

 

[Sea]

Just ordered mine $499USD now.

 

[Hotch]

Hi Alicec and Sea, when are you expecting your results re above testing? It's very exciting!

 

[wastwater]

Is this similar to the genome projects of the U.K.
I read that the price of a full genome scan is falling from 100k to 5k to 1k I hope this is true and available in the uk
Anyone know of a uk whole genome scan price of good quality and for diagnostic and research purposes

 

[Sea]

Hi Alicec and Sea, when are you expecting your results re above testing? It's very exciting!

I've just received my kit in the mail. Now I have to organise return postage and then allow time for processing so it will be a while away yet

 

[alicec]

Hi Alicec and Sea, when are you expecting your results re above testing? It's very exciting!

Still in process. They say on the website this takes about 2 months, so hopefully I should have something in a few more weeks.

I have received an email from them saying that all is going to plan.

 

[alicec]

I've just received my kit in the mail. Now I have to organise return postage and then allow time for processing so it will be a while away yet

They suggested not using delivery via USPS, although did give instructions for that option.

I couldn't be bothered organising this so just went to the post office and used the cheapest option with tracking (delivered by USPS at the other end).

The parcel arrived ok (less than 1 week for receipt).

 

[Cheesus]

@alicec

What kind of insight might be derived from running this test?

 

[alicec]

@alicec

What kind of insight might be derived from running this test?

This is complete sequencing of all the coding regions of genes, along with immediate regulatory regions.

This will give much more detailed info about individual genetic variation than is provided by 23andme, but the motivation for having the test is much the same.

Do my individual genetic variants have particular implications for health? Are there areas of weakness defined by genetics that I might be able to do something about?

I don't have particular reason to think that I have serious genetic problems, certainly 23andme didn't reveal anything startling. But it is now possible to have this sequencing for a reasonable price and I would prefer to have more rather than less information - so I ordered the test.

Maybe something of significance will be revealed.

 

[Cheesus]

@alicec

Thank you!

 

[Hotch]

Excellent. Look foreword to hearing about your results! Cheers

 

[Sea]

They suggested not using delivery via USPS, although did give instructions for that option.

I couldn't be bothered organising this so just went to the post office and used the cheapest option with tracking (delivered by USPS at the other end).

The parcel arrived ok (less than 1 week for receipt).

They didn't give me any instructions for return shipping. How did you package it and what did you declare? According to Aus Post they will only send such samples between laboratories, not from private citizens. 3 courier companies have declined as well. I'm getting frustrated.

 

[alicec]

They didn't give me any instructions for return shipping. How did you package it and what did you declare? According to Aus Post they will only send such samples between laboratories, not from private citizens. 3 courier companies have declined as well. I'm getting frustrated.

Just pack in the container provided. I did get a satchel at the PO just because it is simpler to fill in all the customs info on it - though even according to Australia Post the satchel is not strictly necessary.

Genos sent me an email giving the address for courier delivery - different depending on whether or not using USPS. The email came after I registered the kit. Have you registered it yet?

Sounds like whoever you talked to at Australia post doesn't know what they are talking about - and the courier companies. I have sent many biological samples for laboratory testing via Australia post and with FedEx and DHL. Never had an issue.

Actually it is an exempt specimen, ie exempt from dangerous goods requirements of IATA. It is just sent in the normal mail in the US. Outside the US some kind of courier is needed to get it there a bit quicker (doesn't need to be overnight) with tracking, so Genos can keep track of the parcel (they ask you to give them the tracking number).

On my parcel I described it as non-infectious, human saliva for laboratory testing.

 

[Sea]

All done. Sent off via Aus Post. Genos emailed me a declaration letter after I told them I was having difficulty.

DHL wouldn't do it. They sent my 23andme sample but that was because 23andme have an account with them and are approved to ship biological samples. They argued that even the exempt human specimen is a biological sample.

 

[Waverunner]

Ordered 2 months ago, will hopefully get results at the end of February. Looking forward to sharing results with you all.

 

[Snow Leopard]

There seems to be a bit of competition these days:

"List of Personal Genome Sequencing and Interpretation Services"
http://arep.med.harvard.edu/gmc/genome_services.html

Note that "whole", "complete", or "full" genome sequence typically means 95% genome (where the 5% missing is not always the same or known).
No human genome has been 100% sequenced to my knowledge. This remains an important goal.

Any opinions?

Example of competition:

$200AUD "register interest" for 30x whole genome testing in Australia:
https://www.genomix.co/get-your-genome-sequenced

 

[Snow Leopard]

http://scienceblogs.com/digitalbio/2014/02/26/could-you-repeat-that-please-speak-louder/

The game Telephone teaches us how a message changes as it is quietly passed from one person to another. In Telephone, mistakes in messages come from poor hearing, memory failures, and misunderstanding. By analogy, mistakes in DNA sequence results come from poor signals, artifacts introduced through many steps, and data processing. In Telephone terms, the errors we can identify and correct, through the four verification methods, can be expressed as:

1. Oversampling; “please speak louder”
2. Technical replicates; “please repeat that”
3. Biological replicates; “please repeat that again”
4. Cross-platform replicates; “get a second opinion”

...

In summary, oversampling is good for reducing errors that occur in a random fashion. However, systematic errors that result from the local base compositions or instrument created artifacts will persist even when data are oversampled. Thus, other types of verification are needed.

Hmm...