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Support for 100,000 Genomes Results

(16 Posts)
MiltopMighty Tue 18-Apr-17 16:07:36

Just wondering if anyone else out there is waiting for your 100,000 Genome results and if we can start a support thread?

I am slightly worried about the results - especially the extra findings that we did elect to receive. Have NC for this as many of our family don't know that we are enrolled. Please post if you are waiting - it would be great to have some hand holding and support as our results come in through the months.

MiltopMighty Wed 19-Apr-17 16:19:29

No one? sad

MiltopMighty Fri 21-Apr-17 15:59:45

<hopeful bumpity bump>
For the weekend crowd or somesuch.

Toomuchocolate Mon 24-Apr-17 07:29:42

Hello, I'm interested in this. Much son has a chronic condition and would like to find out why/what's in store for the future. How did you enroll?

MiltopMighty Mon 24-Apr-17 11:45:30

Hi sorry to hear about your son. Im not sure if it is still open for enrolment although it looks like it is from their website. You have to be in England and have a referral from Geneticist or similar. We were referred by a Geneticist.

Here is the page that has a link to see if you might qualify - if you think you do then your GP or geneticist should be able to help you.

www.genomicsengland.co.uk/taking-part/intro/

upwardsandonwards33 Mon 24-Apr-17 12:23:28

Hi Miltop
When do you think you will get your results? Do you have any diagnosis so far?
I am awaiting a referral to a genetics doctor and then hope to get onto the 100,000 genomes project. DD has gdd.

MiltopMighty Mon 24-Apr-17 12:25:38

They sent a letter saying results should start rolling out from September. It could be a long time though as I think they are running behind what they anticipated and they anticipated a long time in the first place.

Hope you get your referral.

upwardsandonwards33 Mon 24-Apr-17 12:26:59

All the best - keep us posted

MiltopMighty Mon 24-Apr-17 12:30:48

upwardsandonwards33 sorry didn't answer-we do have a diagnosis- although the consultants are wavering between 2 different diagnosis and hoping that time will reveal which is more accurate so that we can do future screening and so that future treatments can be developed if possible.

lougle Tue 25-Apr-17 08:04:15

We're in the 100,000 genomes project and entered in November 2016, so we were counted as 'first wave'. We agreed to have all the tests. DD1 (11) is the main candidate. She had a GDD with microcephaly and epilepsy label as a young preschooler, then an MRI showed widespread but subtle cortical dysplasia of the brain. Her label changed to MLD when she started special school. She was part of the first wave of the Deciphering Developmental Delay (DDD) study, which was a genetic micro array study and a precursor to this kind of study, but nothing was found for her.

So here's to hoping that we get some answers!

MiltopMighty Fri 26-May-17 12:59:44

Hi lougle thanks for the reply. Sorry for such a long delay - sick DS!

Have you heard anything yet? Finger crossed for you.

We still haven't heard anything.

Did you opt in for the additional findings?

Positivity17 Wed 28-Jun-17 15:15:48

Hi just found this forum,
we to enrolled in this project last December 16 (Is that classed as the early stage of the programme?)
My daughter has a diagnosis based on her clinical symptoms however they havn't been able to identify the gene causing this, so hope to hear some news soon. We are unsure if my other daughter/ husband or I carry it!
Were yous told at least a year till results will be aviable! Good to hear from others in the same situation!

deaddeadgood Sat 01-Jul-17 19:36:20

Were hoping to be referred to to this too

Positivity17 Sat 01-Jul-17 21:16:54

Hi deaddeadgood hopefully you will get referred soon the wait seams to be on the other end but hopefully will be worth it. Fingers crossed the results will start to be released soon.

HHH3 Thu 13-Jul-17 06:46:17

Have just come across this.

We've been on the project since Dec 16. Not expecting results any time soon but I know some are slowly starting to filter in. There's a Facebook group called 100,000 genomes project support which is good.

Positivity17 Thu 13-Jul-17 22:15:59

Hi HHH3 we've been in from December '16 also yes I'd say will be atleast the end of the year but its good some people are starting get results will check out the Facebook page.

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