UK Genome Wide Association Study (GWAS) project - draft website goes live, feedback sought on recruitment plan, and updates

Very true. We'll probably re-word that bit...

 

Just to expand on that lay answer slightly (covered in the technical answer that followed):

Whole genome sequencing reads all 3 billion DNA letters, as the name implies. GWAS reads only around a million letters (one out of every 3,000 letters), but these are the letters that most frequently differ between people and so captures most of the variation between people.

GWAS is also more than 100 times cheaper than WGS - so researchers can afford to run big enough studies to produce reliable resuts.

On the other hand, WGS can also detect rare differences (too rare for GWAS to find) that make a very big difference to function, such as disabling a gene. Most of the differences detected by GWAS are subtle, modifiying (by a small amount) the level of activity of a gene.

 

Edited this paragraph as described.

 

Yeah, I may steal that for the website....

 

Presentation by Chris about the project at the 2020 CMRC conference.

Code:

https://youtu.be/Cd0LWQHXugo

https://www.youtube.com/watch?v=Cd0LWQHXugo

 

Thought I would provide an update on the main queries that have been raised here that I fed back to the team. As I'm sure you will understand, we have had an incredibly busy period finalising and submitting the application, and as we did that the Covid-19 situation blew up, which has meant major disruption - mainly for our CureME colleagues but obviously affecting us all. In short, this means that I have some answers and some outstanding questions.

1. Why can’t the IOM/NAM and CCC criteria be applied retrospectively, so that it is possible to include those who now consider themselves recovered, as there won’t have been a change in their genetic information?

Discussion still ongoing on this point.

2. Why can’t the results from commercial genetic tests be used?

The technology that a participant’s DNA genotype is read out by needs to match as closely as possible with how genotypes of controls have been generated (for free) by the UK Biobank. Reading out DNA in a different way, such as using a commercial provider, will introduce unwanted biases and potentially lead to false conclusions. Using commercial genetic tests would also require us to develop systems for importing and quality controlling commercial genotypes, which would not be a good use of our resources.

3. Concerns about length and number of questionnaires. What questionnaires we will be using and why.

Discussion still ongoing.

4. Re-contactable cohort. Various concerns have been raised about other researchers being able to contact those people who sign up and/or are participants in the GWAS. An explanation of how this will work in principle is needed, including what contact information will be shared.

Re-contact procedures will match, as far as possible, those that have been in use by the UK Biobank for many years (details here). In short, participation will be entirely voluntary. Any initial re-contact would be undertaken by the MEBiomed Partnership. Decisions on whether re-contact is appropriate would be made by us with advice from the Scientific Advisory Board and subject to separate ethics approval. Re-contact will be monitored to ensure that participants are not over-burdened. Re-contact will be to establish whether (or not) participants are willing to take part in a third party research project.

5. Can we integrate a map of the UK into the website, showing numbers of participants in different regions over time?

We are in favour of this idea and will implement it if possible, while preserving participants privacy sufficiently - this has been done internally for the VIKING II GWAS project to inform their recruitment efforts and so we will engage with their team to draw on their experience.

If you feel that I have missed, or misunderstood, an important query or issue with the proposed project then let me know in a comment below.

ETA: Few minor words added/changed to improve readability.

 

I just want to park here this very sensitive and pro-invisible-chronic-illness-patients tweet from Miranda Hart (Twitter following of 2.3 million):

https://twitter.com/user/status/1240966053649420288


If the study gets funding, then when we come to launch it, I hope we can ask her to help promote it.

@Andy, @Simon M

 

Check website. Check Twitter. Check Facebook. No updates. Waiting on word for funding approval is hard. Still keeping my fingers crossed.

 

Glad it’s not just me waiting and wondering whether I have missed the news

I know @Andy will tell us.......

 

Same. I came here seeing a new post had been written and was more excited / anxious than when my exam results came out! I hope the announcement comes out soon!

 

All I can say at the moment is that we are still waiting and that I believe the only reason we are still waiting is the enormous Coronavirus-shaped spanner that has been thrown into the workings of everything at the moment.

 

Code:

https://www.facebook.com/mebiomed/posts/181099940013550

https://twitter.com/user/status/1259815628325748736


https://twitter.com/user/status/1259815916138893312

 

Funding has been awarded, see https://www.s4me.info/threads/decodeme-facebook-post-announcing-£3-2m-funding-uk.15604/