Helen Bethell
I am a Registered Genetic Counsellor currently on secondment with the North East and Yorkshire (NEY) Genomic Medicine Service Alliance (GMSA) as Workforce Development and Education Lead.
Location North East and Yorkshire (UK)
Activity
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Helen Bethell made a comment
We hope you enjoyed week 1! Did anything surprise you to learn? Or are there areas where you are wanting to know more?
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Helen Bethell made a comment
Did you find the national test directory easy to find and navigate? What tests within the directory were of interest to the area of your own work?
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Helen Bethell made a comment
What did you think of your local GLH website - was it easy and straight forward to use?
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Helen Bethell made a comment
What do you think - do you think genomic testing should be available to all? Can you relate this to your previous reading around the Newborn Generation study?
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Helen Bethell made a comment
We would love to hear about your experience of mainstream genomics, either in an area of the NHS or in other countries!
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Helen Bethell made a comment
What do you think about incidental findings? Would you personally wish to know incidental findings, even if they don't relate to your initial health issues?
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Helen Bethell made a comment
Safia makes a good point - do you agree or do you feel differently?
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What do you think about the Newborn Genomes Programme study, do you think this is a positive step forward or do you have concerns. Pop your thoughts in the chat!
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Helen Bethell made a comment
What other flags are there in this case which might indicate an underlying genomic diagnosis?
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Helen Bethell made a comment
Does anyone have any experience of seeing a patient or family where you suspected an underlying genetic component? What were the flags that made you suspect inherited factors?
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Helen Bethell made a comment
Can anyone else think of some examples of ways in which identical twins can differ?
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Helen Bethell replied to Stephanie Owusu
Thanks Stephanie, welcome to the course!
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Helen Bethell replied to Rawend Djemaïa
Great to have you on course Rawend
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Helen Bethell replied to Lisa Hutt
Great to have your engagement Lisa, as the course should really help support those conversations with families.
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Helen Bethell replied to Lisa Hutt
Fantastic to have you on the course Lisa!
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Helen Bethell replied to wenhan deng
Thanks, as I understand it I think certificates are awarded on completion of the course.
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Helen Bethell replied to wenhan deng
Lovely to hear your background, and thanks for enrolling on the course!
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Sounds a great idea. Giving information in advance can help families to clarify what their questions and concerns are, so that they can make their appointment more useful for them.
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Great point Petra, environmental factors can have a huge impact on our variation.
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Helen Bethell replied to Petra Gudelj
Welcome to the course Petra!
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@CarlHarvey I am based in NEY also. We are currently reviewing our websites. Good to hear that you found the current site helpful
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Helen Bethell replied to Carl Harvey
Having testing available within mainstream medicine also has the potential benefit of sitting within existing patient pathways, making it a smoother health care journey for the patient.
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I agree Carl - robust MDT's are the key to the success of a lot of the mainstreaming pathways. Are you involved in any of your local MDTs regarding genomics?
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Really good points Carl. We often think about the high risk conditions e.g. BRCA and Lynch in these scenarios where informed screening and management can be of huge benefit.
However, what if the result was a variant in a moderate risk gene? Would you still wish to know you were at an increased risk even this was only slight? There may be little or no...
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Very true Carl. Health care has changed so much over the last few generations that subtle features might not have been identified in older generations. Patients also becoming very accepting of what they describe as 'normal for their family'.
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Exactly Carl - highlights the importance of taking care when interpreting findings which we will look at in week 2.
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Thanks Sharon. Having read this, can you think of any ways in which identical twins’ genomes could differ?
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Absolutely Carl - the patient voice is always so powerful to hear.
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Welcome Emmanouil! Hope you enjoy the course and find it helpful.
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Helen Bethell made a comment
"What you think their reaction may have been?" Should read "What DO you think their reaction may have been?"
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Helen Bethell made a comment
It would be good to explore with the couple why this element would be particularly difficult for them. Even with a positive result there remains a lot of uncertainty - how, if, when, cancer will occur.
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Helen Bethell replied to Noelle Cullinan
Good to know I am not the only one Noelle! I feel I have a much better understanding but certainly not enough knowledge to this independently. I would however been keen to take my learning and be involved in MDT discussions.
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I completely agreed Melody - always much easier to build on the discussions that have happened at the consent stage.
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Helen Bethell made a comment
I think this highlights the importance of having a conversation about uncertain results before a patient goes through testing. Explaining how positive, negative, and uncertain results will be treated.
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Helen Bethell made a comment
Subtitles are out of sync!
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I needed the answer sheet to clarify what search term I should be using. Once I had this I was able to complete the task
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Helen Bethell made a comment
Really clear description
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Helen Bethell made a comment
I wasn't sure how the presentation related to the slides/screenshots. I would have found it helpful to have the relevant sections highlighted or a pointer from the speaker. There were also several errors in the transcript/subtitles.
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I agree Joanna - I think some further guidance on how to use Varsome would have been helpful. My results didn't look like the shots given in the answer, and so not sure I have searched correctly!
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When searching for 'NSD1:c.6424T>A.' on Varsome the site said that I didnt have access to this. I am unsure why this was if it is a free tool?
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Helen Bethell made a comment
In the transcript/subtitles it referred to 'nomad' which I think should have been GnomAD
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I agree with Zoe here - I am a little confused how to select three tools.
An explanation of how to use Varsome would have been helpful, or alternatively I a screen shot 'answers' sheet would be helpful as in previous questions. -
Helen Bethell made a comment
It might be nice to have this interactive - where you can drag and drop on to the pyramid.
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Helen Bethell made a comment
I have a family in which a variant was identified and initially considered likely pathogenic. This was subsequently downgraded to VUS. The lab feel that family cascade testing of those affected may potentially be sufficient to get it 'back across the line'. However the other affected family members are not engaging. This is very difficult as it affects...
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Helen Bethell replied to joanna millen
I have downloaded and saved
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Helen Bethell made a comment
I think the reason for the variation is due to errors made when DNA is replicating as cells increase in number.
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Helen Bethell made a comment
Hi all, not sure if this is the right place to put comments about the pre-learning quiz - but I found the wording of question 3 very confusing!
