Experiences of genetic testing

[Zante]

Dear All.
I was wondering if members were offered genetic testing as standard? I was doing some reading ( as always!!) On genetic testing for various genes and reasons and was interested if this was offered to yourselves during any consultant appointments? Or if not did anyone request one and then have it done? From what I can gather the private genetic tests u can do online aren't the type that can diagnose particular conditions or look for specific gene and instead do a broad spectrum, like look for certain cancer risks , baldness and others. Does a genetic test require a patient to attend a specialised hospital or is it a standard blood test used? Sorry for many questions. I am curious because at the moment I have probable upper motor neuron type mnd but the original consultant also queried hereditary spastic paraplegia before I was transferred to neuromuscular department. I read that hsp often but not always can be confirmed compared to pls by a genetic test as there are 80 genes attributed to hsp. I don't see the neurologist again until Feb so have some time to wait and compile a questions list!! Thanks for reading.

[DeeH]

Zante

Husband had blood tests for genetic testing (asked his consent first) in July 2020 when diagnosed.

Moved to another area and that consultant said he wouldn't have bothered to test, as there was not family history.

This seemed daft to me, if you have family members with MND you would already know there was a possibility of a risk of genes present

The test came back with no genetic markers ( they are keeping the blood for future tests - if new information/tests discovered)

I encouraged husband to do this for science reasons.

More blood tests equals more data.

We don't have children or neices/nephews.

It maybe a post code lottery in UK.

[Zante]

Thanks Dee. I agree with the all helps with science. I didn't know how genetic testing worked.... as in are they only looking for specific genes that the clinician asks for or does genetic testing cover every gene?!!! I got some more reading and research to keep me busy I think! Thanks.

[Banned]

You can ask for a C9ORF72 gene test at least. It is the most common defect discovered yet, although I suspect that you won't have that defect Zante.

I hope/expect that other MND variant/mutant genes can be tested for these days. There are over 40 defects in all and 'sporadic' MND cases are now said to have a genetic involvement.

I had a whole genome test as part of research and it did throw up a mistake in a neurone specific gene, DCTN1.

[matthew55]

I was, asked at diagnosis and discovered my dead mum left me a little something. 🙄😂😁🤗xx

[Zante]

Thanks toy Graham and Matthew for your replies. It's good to read that the NHS does do some generic testing and it's not totally unheard of.
it wasn't the gene C90RF72 I was thinking about but more alone the lines of the hsp genes because the consultant was saying pls because of being unilateral but I now have the stiffness in both legs and that is making me want to ask for a genetic test for hsp. I got nothing to lose by asking next year I suppose.
thank you.

[Lynne K]

I was asked by my neurologist if I wanted a genetic test a few years ago at my three monthly clinic appointment. We’d been taking about genes since she’d seem me reading a book about genes. The blood test was done at clinic then next visit I was told that I have the C9ORF72 gene fault. I was referred to a genetic counsellor in a different Manchester hospital (St Mary’s). My niece tested positive about a year ago but doesn’t have any symptoms yet. She’d asked her GP for the test. Her dad, my two years younger brother does not have symptoms and is refusing to be tested xx

[Zante]

Lynne K thanks that's really helpful. That must have been difficult for your niece to hear that she carries that gene. And to not feel the need to look for any signs of a condition beginning. I actually had a call today from my consultant secretary asking me to come for an appointment in a few days time so I will mention it there. Thank you. And it's good that u weren't asked to attend somewhere else for the blood test and could have it done at your clinic. Take care

[Ellie]

Zante Naïvely perhaps but I would have hoped if there was any possibility that you may have HSP, then you would automatically have genetic testing to rule it in or out. As ALS wasn’t on the table for you, it’s unlikely you’d be screened for any ALS-related genetic mutations, I know that isn’t your question really…

In my clinic, it’s normal to be screened for the ‘popular’ ALS genes (with consent) for data collection and to identify unknown or de novo familial ALS - de novo means you’re the first person/generation with that familial mutation.

There are also research projects which take blood samples from people with ALS and control subjects for genetic profiling. xx

[Zante]

Zante Naïvely perhaps but I would have hoped if there was any possibility that you may have HSP, then you would automatically have genetic testing to rule it in or out. As ALS wasn’t on the table for you, it’s unlikely you’d be screened for any ALS-related genetic mutations, I know that isn’t your question really…

In my clinic, it’s normal to be screened for the ‘popular’ ALS genes (with consent) for data collection and to identify unknown or de novo familial ALS - de novo means you’re the first person/generation with that familial mutation.

There are also research projects which take blood samples from people with ALS and control subjects for genetic profiling. xx

Thanks so much Ellie. I was going through some paperwork from the hospital various letters of copies sent to my gp etc and read the August one where she said she initially queried hsp but as its bilateral and pls onset is unilateral she felt more probable pls. But when I read up a lot on hsp its so similar onset and symptoms and is also a progressive degenerative disease effecting upper motor neurons . But of course it has a better prognosis than pls. Still disabling but not to the same extent. I might be burying my head in the sand but I do hope there might be a possibility so I think might ask about the genetic testing as it's often the only way to diagnose if its genetic type. Of course to throw a spanner in works it can also be sporadic. But I am pleased to read that some genetic testing is done through neurology nhs. I had another fall today, not as bad as previous one and no breaks or stitches required this time but it's happening more often so need to discuss it. Thanks again for answering. Xx

[Ellie]

Oh no Zante hope you're not too sore.

Sending you and your pride a big hug 🤗🤗😚

[LindaB]

Zante sorry to hear you've had a fall...really shakes you up...take care🙏

[Zante]

Erm... i had a walking stick!! Went out early with my dog to try and beat the worst of the weather ( today I wondered why I didn't get a cat!) And my legs are terrible down hill I feel quite unsteady. Big gust of wind and I didn't have the flexibility in legs to put decent footing down and went flying. Sore hip bone and knee cut up but am alright. Just fed up of falling now its making me nervous outside.

with the testing I guess the mnd consultant that my original consultant sent me to would have raised it if he thought it was required and he didn't. Thanks for reply. X

[LindaB]

When I was 1st diagnosed the consultant mentioned genetic testing however at the time I wasn't sure....still not sure of the benefits?

[Zante]

When I was 1st diagnosed the consultant mentioned genetic testing however at the time I wasn't sure....still not sure of the benefits?

Thanks Linda. This is slightly different cos at the moment I have been diagnosed with pls but there is a condition called hsp which manifests very similar and is difficult to tell the difference but quite often over 50% of hsp patients have a mutated hsp gene of which you need testing. I was hoping it might have been that instead!
I think with the als genetic testing it's personal choice really. if I had been diagnosed with als i don't know if offered what I would do. But I wonder if it meant it might help with research. I don't know.