100,000 genome project

[JellyBaby26]

I have posted previously that my dd had a mitochondrial disorder however despite exome sequencing and full mitochondrial genome sequencing they have found nothing of note.

So the only other stage is to take part in the project. Has anyone else? I k ow it's not a quick thing but how long did you wait before you heard anything?

It's so difficult living with a SWAN. She is so adorable but has not hit one milestone in 8 months

[TheGreatSnafu]

We are on it - I've not met anyone else on it.

How long have you been on?

We've been on longer than a year and not heard anything. I hope that isn't disheartening but we have an entirely different health issue here - we have had suspected mito issues but that wasn't the primary diagnosis for which we were referred.

[JellyBaby26]

We aren't even on yet. Appointment is on 12th feb.

Think it's going to be a long and frustrating wait. Already been 8 months thinking it was mitochondrial then we have been told it's probably not and to take part in this project.

Have you opted to find out if you have other faulty genes?

[TheGreatSnafu]

Yes, we have opted to find out other faulty genes.

The geneticist said that the genetics are progressing at breakneck speed so there is hope for information.

[TheGreatSnafu]

Who is your appointment with on the 12th?

Did they give you any idea how long before you get any information?

Sorry to hear about your DDs lack of development, that is so difficult.

[JellyBaby26]

Jo lowndes from the john Radcliffe.


We have been told by our normal geneticist it would be a very long time. She seemed to get frustrated when I would call up and chase our application and previous gene testing results and would say "it's not a quick thing etc etc".

She obviously has no idea what it's like living with a child like mine! And never hearing fr hospitals....story of our life!

[TheGreatSnafu]

I know, the waiting is unbearable. DS has some new symptoms so the geneticist is running a new set of tests - they aren't tests that I ever thought we'd be running.

If he has any of the syndromes that she is testing for, it's very bad news. We have to wait until March for the results. I am going crazy with the wait. It's insane. Like some bad nightmare, I just want it to be over.

All we do is wait, wait, wait...

[TheGreatSnafu]

Look - JellyBaby - the first children from the genomic sequencing have a diagnosis - they were just diagnosed in January! How exciting for them and their parents!

www.wired.co.uk/news/archive/2016-01/12/100000-genome-project-children

[JellyBaby26]

That's reassuring to read!

sounds ever so morbid but I just hope DD is here when they do find out her problem.

[TheGreatSnafu]

I hope she's here too

[Owllady]

Can I ask you both how you got involved? My daughter has a collection of labels (complex) and we'd like to be involved but don't know how. She's 16 now, so it's not urgent and we don't want any more children, it would just be nice to know if it was something genetic.

Jellybaby, my friends dd has mitochondrial syndrome/disorder. After a really bleak start, she's now in her teens and although having a severe disability, she's done extremely well. Much better than the drs expected. Hold in there x

I just wanted to say to you both too, that the not knowing or having a name or reason, does sort of get pushed back as the older. It becomes less important. I think the fear of the worst case scenario and not knowing is completely consuming and overwhelming when they are little, but if like us you get no answers, I promise you it gets easier to deal and live with and eventually you just forget!

[Owllady]

As they get older
Sorry it missed out two words :)

[JellyBaby26]

We are involved as dd has had all the possible gene checks and it's shown nothing. They now think it's probably not mitochondrial but no one can be sure! It was mentioned back in October but we had to wait for approval which was only granted when results came back normal .

I think as well, as we are expecting our second it was mentioned and encouraged.

I can imagine the uncertainty isn't as bad as they get older. The consultants and Dr's told us dd wouldn't breathe on her own when they extubated (sp?) And sent her home for palliative care so it's amazing she's still here. Sometimes she has a little wobble and we just think it's all over, but she's ever so tough

[Owllady]

She sounds like a little fighter :) like min (mine is as stubborn and feisty as they come :o)

[JellyBaby26]

It seems that what they lack in a normal gene somewhere they make up in fight!

[TheGreatSnafu]

Can I ask you both how you got involved?

owllady I think a geneticist probably has to refer you - ours did and jellybaby's referral is coming through a geneticist.

It seems that in order to qualify you have to have a rare medical condition or a specific type/s of cancer. We have a diagnosis of one very very rare syndrome but no identified genetic mutation.

I would guess that undiagnosed but rare diseases would also qualify.

[duckyneedsaclean]

I feel your pain, my ds is waiting on results from the DDD study, which uses exome sequencing (I think).

It's so hard to think that even when we get results after 2 bloody years they may not show anything.

[JellyBaby26]

Oh I know. In this day and age where there are medical miracles happening everyday, they cannot tell me what's wrong with my daughter.

[TheMshipIsBack]

I work in this field (on the research side) and am happy to answer questions about whole genome and exome sequencing if anyone wants details of how the data is analyzed. Best wishes to all of you taking part in these projects.

[TheGreatSnafu]

Thank you, TheMship - can you tell me, how long does it take to actually sequence a whole genome once the blood samples are all in? (We have 3 family members who have given blood.)

Also, are the mutations compared to international references? If that makes sense.

[grumpysquash2]

Hi there,
Like Mship, I also work in this field.

The sequencing part is relatively quick (few weeks), but the analysis can be very long, depending on the bioinformatics available. So converting to an understandable 'readout' could be months or more.
Also, if it's leading to a diagnosis, I would assume it has to go via your consultant (?)

[grumpysquash2]

Also, initially the sequence is compared to the 'reference' sequence, but will also be compared to various databases of known mutations (some of which cause disease and some of which are just variations which don't do anything). The analysis is quite complex.

[TheGreatSnafu]

Thank you very much.

Is the database of known mutations an international database?

[VertigoNun]

My condition is on the project too.

to all waiting for answers.

[TheMshipIsBack]

Thanks grumpy, that's pretty much what I was going to say. Sorry it's taken me a couple of days to come back to the thread. In my experience so far, sometimes the analyst is lucky and there is a strong candidate mutation (eg in a gene previously associated with the disorder, obviously disrupting function, where the inheritance pattern is right for that family), but far more often it's a matter of a longer list of possibilities that is slowly filtered down, with some automated steps and some manual. This can take months or more and may not be conclusive.

Yes, the database (actually many databases) of known mutations is international, representing many ethnicities. It certainly is more comprehensive for people with western European background, but there are efforts to improve the coverage for other ethnicities.

[TheGreatSnafu]

Thank you very much, grumpy and Mship - very helpful answers.

Also, if it's leading to a diagnosis, I would assume it has to go via your consultant (?)

Yes, in our case, via our geneticist but I would hope she wouldn't sit on it for very long if she did receive information.