Research suggests routine genetic testing could have positive impact on care

[Admin_MND]

Research released today, funded by the MND Association, has found higher than expected genetic changes in a group of 100 MND patients.

Researchers from the Sheffield Institute for Translational Neuroscience (SITraN), part of the AMBRoSIA biobank, suggest that offering routine genetic testing to MND patients could impact on disease sub-classification and clinical care.

You can find out more in our latest news story here https://www.mndassociation.org/sitranstudy/

[billy106]

How does that really help with finding a cure for MND. wasting donations on this, is not the way forward.

[Banned]

I have known this and saying this for years. If only the MNDA would listen?

It helps with the prognosis Billy. Some of us will get dementia, for example.

[matthew55]

Box of chocolates anyone? 😁x

[Bowler]

Box of chocolates anyone? 😁x

Err you going to have to help me out with that one Matthew 🤷♂️

[matthew55]

Really? Too early? Forest......😁x

[Bowler]

Really? Too early? Forest......😁x

Nope must be me being thick 🤷♂️

[matthew55]

Forrest Gump film 😁x

[Bowler]

Forrest Gump film 😁x

Ah I see. Never seen it 😁

[matthew55]

Do yourself a favour and do 😁x

[Bowler]

👍

[denise]

So am I thick or does this mean that there are genetic changes as mnd gets worse?
as far as I know the only treatment is riluzol.
thought prevention or stopping it would be better than just realising there are changes but no way of treating it. Seems like money wasted but perhaps I have the wrong end of the stick
🤔

[Lynne K]

Denise, I guess that it’ll help with more rapid diagnosis. Also if researchers have better understanding of MND causes then surely it gives them other factors that will help them find a cure or at least treatments. Lynne

[denise]

I don't know Lynne. More I read the more confused I get. 🙁

[Onein300]

This is a tricky subject especially where we are at this point in time (history).

All the time a treatment is not available, the revelation of ones genetic status could be a bomb shell, truly destroying siblings and off springs lives. I have heard of families being devastated by the knowledge.

There is no doubt the more genetic info we have the better it is for research. Remember the most likely form of any treatment(s) that will start to emerge is a slowing or stalling treatment. The earlier that is applied the better, as we see with cancers etc.

What the article doesn’t say, and perhaps it should, is whether testing should be anonymous.

For example, if you were tested and the data could be kept anonymous but then only revealed as treatments become available that could be powerful.

As we move towards therapies being available for certain gene related MNDs, I personally would then, at that time for testing for x. Before that time, I would only consider anonymous testing for data banking.

But the key aspect of this research is that far more people have an aspect of genetic link to MND than was believed. If you only test families that are known to have genetic Mnd, you,by definition, enforce the data that genetic changes are only relevant to them!

This has been shown now to be clearly false, with nearly all of the genes implicated in familial cases actually found in sporadic cases in many many examples.

The division between familial and sporadic is largely now false most probably. Genetic linkage was only originally possible by using families and often quite large families. So sporadic cases were never included etc!

New analysis techniques, speed of analysis and above all reduced cost will make such testing critical in diagnosis but above all be a spring board to more treatment targets.

Lee