# 100,000 genome testing, anyone done this????



## smurff

Hi, took my dd to her paediatrion app today, she has learning difficulties and possibly autism. They asked if we wanted to take part in this 100,000 genome testing. It's a research programme where they take blood from me and my husband aswell as dd and do very in depth genetic testing to see if there is a reason my dd is the way she is. I'm all for helping out and finding out answers but all our dna will be kept for future testing forever, I don't mind about mine or my husbands but I don't want my dd kept, anyone had this done


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## sethsmummy

where are you based hun? sounds quite intersting and something id be willing to do


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## smurff

Hi. I'm in Cornwall. But it is a nation wide research programme. They said instead of just looking at your chromosomes and structure of dna they can actually now go inside your dna. does sound very interesting and may hel understand alot more. I'm just waiting on a phone call from the team who specialise in this. Will update when I know more


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## sethsmummy

thanks hun i had a google too and see its only in england whic is a shameas were scotland xx


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## DonnaBallona

We're taking part too. It doesn't bother me them keeping it, as it'll benefit other people in the future of they can find a reason for my boy being the way he is.


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## kosh

hi, I work in one of the research centres that recruits for 100k Genomes and I will be doing the data analysis whenever the sequencing is done. I work in a muscle disease centre but all the centres (cardiac, developmental, etc) will work in a similar way. I am happy to answer any questions you may have :flower:

why are you concerned about your daughter's DNA being kept 'forever'? 

@sethsmummy - yes it is only England unfortunately. what is your son's condition? I may be able to point to another suitable research project.


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## smurff

Hi, firstly I'll say I'm a born worrier, my mind runs away with me and I always imagine the worst. She goes to a specialist nursary and obviously sees alot of specialist. I was told normally they would bring me into office sit down with me and tell me that they suspected autism then a month or so later meetings with specialists would start and different forms to be filled out then the subject of schools and extra funding would start. Normally that process from telling us about autism to the stage I'm at now would take about 4/5 months.. We have gone through all this in 4wks so I'm sure you'll understand my anxiety and stress levels are through the roof. We we're told about this testing last week by my daughters peadeatrition, it all sounded really positive apart from having to take my daughters blood again as she hates that and has been through that enough. The peadeatrition did say the only thing that parents may not like is the fact that they will keep all our dna, now I don't care about mine and my husbands dna but I'm not to thrilled with them keeping my daughters. I know this will probably sound stupid but I don't like the idea of someone somewhere having part of my daughters dna and me not knowing what it's being used for and who's using it. I'd be more than happy if it was kept for a while then destroyed but I don't know if I like the fact it will be kept for ever. As I said it's prob me worrying for nothing and me and my husband are definitely not ruling this out. Another thing I'm not sure on is I know they check all our dna to see if there is a reason my daughter is the way she is but what if they find that she is the way she is because of me! I don't think I could ever forgive myself and every time I looked at her I'd feel I'd let her down as it would be my fault. :cry:


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## kosh

First, apologies if my question came out wrong. all I wanted was to know why you were concerned in case I could put your mind at ease somehow.

Sorry to hear things have been rushed, it must have been very stressing 



smurff said:


> someone somewhere having part of my daughters dna and me not knowing what it's being used for and who's using it. I'd be more than happy if it was kept for a while then destroyed but I don't know if I like the fact it will be kept for ever.

The reason why this is requested is because it would be a shame to throw it away. It takes time and effort to recruit families like yours. Having your daughters DNA and analyse her genome might be beneficial for you/your daughter but it is also beneficial for the research and clinical community as the more cases like your daughter's that can be collected the more chances we would have to understand them. 
The way it works is that your daughters DNA will be analysed under this project first. If it is 'solved' (an explanation is found), great, but if it is still unexplained, ideally it should be entered in a different project in the future so that one day _is_ solved. 
In any case, DNA can't be kept 'forever'. By donating a blood sample you are donating an X amount of DNA which could be used an X number of times, but not forever, ie it will run out at some point. 



smurff said:


> Another thing I'm not sure on is I know they check all our dna to see if there is a reason my daughter is the way she is but what if they find that she is the way she is because of me! I don't think I could ever forgive myself and every time I looked at her I'd feel I'd let her down as it would be my fault. :cry:

It will never be your fault :hugs: 
I can explain the genetics behind it if you want, just let me know :flower:


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## smurff

Firstly your question didn't come out wrong, it was probably my reply that did. We are so grateful for you replying to us and it definitely has helped me. It's an amazing thing to take part in and me and my husband would do anything to help our daughter and to be honest I think I'd be stupid to say no. Your right, when I think about it it is a shame to just throw it away as it can help other families aswell. I'm very hard on myself when it comes to my children and I would probably blame myself but that's my problem and it wouldn't be fair to my daughter to let that get in the way of finding some answers for her. I don't want to trouble you anymore as you have been a great help already but just 1 thing, when they check the dna and things are they just looking for why she has learning difficulties /autism or will it show up anything else


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## kosh

it's not trouble at all! I'm glad that I can help somehow, so feel free to ask any questions you have 

it will show everything, but they will not _look _at everything if that makes sense. But I will need to check exactly what is the policy for incidental findings to give you a 100% correct answer, as each research project has different rules for this.


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## smurff

Ok I understand, I know they wouldn't test for this and I'm prob going completely off track hear but on my husbands side of the family is a very long line of relatives who have died of cancer. Would anything like a faulty genes concerning that show up


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## kosh

smurff said:


> Ok I understand, I know they wouldn't test for this and I'm prob going completely off track hear but on my husbands side of the family is a very long line of relatives who have died of cancer. Would anything like a faulty genes concerning that show up


That's a very valid question!

I am looking into this now - what type of cancer was that?


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## smurff

Breast. I can totally understand that this isn't what the reaserch Is for and that isn't what they will be looking at, it was just a sudden thought last night


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## kosh

I've looked at this in detailed today as I was not sure myself what was the policy. 

The project has what is called 'pertinent or primary' finding, which is a results that is 'relevant to the explanation, main diagnosis or treatment of the disease for which the patient was referred'. So in your daughter's case, anything directly related to her developmental delay. These results will be fed back to you.

Then it also has what is called a 'secondary finding' which is an 'additional, looked-for health related finding, that is not pertinent to the main condition.' These are findings that are 'known to cause serious conditions for which there is good evidence that knowing about them could influence healthcare'. Most of these are cancer genes. I looked at the list and the common genes for breast cancer are there. However, it also says that 'only the mutations in genes that are known to cause childhood-onset disease will be looked for in the case of minor participants". So in your daughter's case, if the breast cancer you mentioned runs in your husband's family (which I assume was developed late in life) has a genetic cause (which is very likely) this will not be looked at because it will not affect her now. But, I should also say, that if they find a 'faulty gene' that is known to cause childhood onset cancer, this will be fed back to you.

Hope this makes sense. You can see all the information here (page 42)
https://www.genomicsengland.co.uk/wp-content/uploads/2015/03/GenomicEnglandProtocol_030315_v8.pdf

The issue of how to deal with incidental findings is a very difficult one, and there is lot of debate about it, both in the public and the healthcare community. Some people argue that they would prefer not to know, yet if it is a life-threatening but treatable condition I would say it is better to know.

Let me know if there is anything you want clarified. You can PM if you prefer :flower:


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## smurff

Wow thankyou so much for this, I can understand why some people would prefer not to know if a faulty gene was found but if one was unfortunately found it has the potential to save someone's life!, this information you have given me is amazing and we are totally going to do this now. Once again thankyou, hopefully I get the call from them soon :flower:


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## sequeena

Hi I posted another thread I didn't realise exome sequencing is what 100,000 genomes is. I live in Wales so cannot go on this study but we have been offered exome sequencing through genetics at cardiff. I spoke to the doctor today in charge and we will meet him in may hopefully. We have waited a long time so I hope this gives us answers.


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## kosh

sequeena said:


> Hi I posted another thread *I didn't realise exome sequencing is what 100,000 genomes is*. I live in Wales so cannot go on this study but we have been offered exome sequencing through genetics at cardiff. I spoke to the doctor today in charge and we will meet him in may hopefully. We have waited a long time so I hope this gives us answers.

it's not exactly exactly the same, but almost
good luck! :flower:


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