Do you have views on newborn genetic testing for the ataxias?

[SueMillman]

Do you have views on whether it's right to test for conditions that don't have cures, such as the ataxias? It's quite contraversial among some ataxia clincians.

Genomics England has announced that in 2023 it will begin a research study to explore the potential of using whole genome sequencing to detect a wider number of rare genetic conditions in newborns. (The announcement is here: genomicsengland.co.uk/news/...

As part of its work, Genomics England is seeking views to help it decide what principles should be used to choose conditions that newborns will be screened for. To support this national dialogue, Genomics England has developed five draft principles. The five principles are, broadly, that a genetic variant should only be screened for if:

1. There is strong evidence that it causes a condition

2. That individuals who have the variant would be expected to have symptoms that would significantly impact their quality of life if left untreated

3. Pre-symptomatic or early treatment for the condition has been shown to lead to improved health outcomes for the child, compared to treatment after the onset of conditions

4. There is a minimally invasive confirmatory test that can establish whether or not the child has the condition

5. Conditions screened for are those for which the socially acceptable interventions are equitably accessible for all as standard of care within the NHS

There will now be a two-step consultation process:

1. A series of facilitated workshops with members of the public, patients (particularly those who are affected by rare conditions), and healthcare professionals. These workshops will take place in May and June 2022

2. An open survey which asks questions on the scope and wording of the five draft principles. This survey is open to all, and will close on 14 June. surveymonkey.co.uk/r/newbor...

After the engagement project, Genomics England will then identify the conditions which should be screened for at the beginning of its pilot research programme. However, the principles and screened-for conditions will be reviewed regularly to ensure they remain fit-for-purpose as research on using whole genome sequencing for newborns evolves.

Please contact me if you wish to attend any of the facilitated workshops.

Sue Millman CEO Ataxia UK ([e-mail])

[wobblybee]

I would be in favour of testing for conditions that don’t have cures. My own type of ataxia is still considered Idiopathic, but there is a possibility that it may be Recessive.

It’s known that some types of Acquired Ataxia can respond well if early intervention is applied, such as the case of ataxia caused by a deficiency.

I think it’s only right to give babies the best chance of any viable treatment as early as possible.

[SueMillman Partner Ataxia UK in reply to wobblybee]

I'm not at all sure that I would be keen to know about a condition affecting my baby that can't be treated or cured, but won't show for 15 or more years....... Might I treat that child differently to my other children because I had that information? When would I tell the child? Would I wait until they displayed symptoms? If I did wait, would they be angry with me? What about if it was an ataxia which might not be symptomatic until the child was in its 40's or 50's? What impact would the knowledge have during their life? Of course, parents who have a child diagnosed with (for example) FA in teenage years, have all of these dilemmas in relation to testing in their other children. A very difficult dilemma........ which is exactly why the survey above is being conducted to find out people's views.

[wobblybee in reply to SueMillman]

Clearly there will difficulties arriving at a decision on whether to do this screening..and what exactly it would cover.

I think people (the general public) may be influenced by personal circumstances, and whether action at birth could effect the longterm outcome. At the moment it’s unlikely this will be the case for many genetic conditions, but in years to come 🤔

My paternal grandmother carried a gene for a type of Muscular Dystrophy, it’s passed down from females to males. One of her daughters went on to have a boy, he had problems from birth and sadly passed away from symptoms linked to Muscular Dystrophy when he was in his teens. Her other daughter had a girl, and when she in turn had a baby it was a boy..and he was ok🙂 So similar to ataxia it can be 50/50

Now, it’s possible to carry out Predictive Testing for certain genes..

My maternal grandfather died from cancer, my mother died from a similar type of cancer, I’ve had a similar type myself. Could there be a genetic link..

My maternal grandmother had late onset diabetes, two of her sons went on to have late onset diabetes. In some cases diabetes is genetic.

My mother had an aneurysm, her brother had an aneurism. My uncle had the type that could be genetic..

🤔 Would I have been able to cope mentally and emotionally at an earlier age ( hopefully not until the age of consent), that I would in later life be diagnosed with firstly Epilepsy, then Cerebellar Ataxia and then Cancer....No

[Trinity1948]

A very interesting research project. Would I agree to have my baby tested ?I am nearly 85 and have had SCA6 for 22 years.My husband and I had 3 children,we have 5 grandchildren and 2 great grandchildren so far. It needs a great deal of thought and surely depends on each family’s circumstances ?