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📽️Film: ‘Rare Metabolic Diseases – Advancing Understanding, Improving Outcomes’

Watch now for FREE ⬇️
progress.org.uk/film-rare-me...

#MakeRareFair #MetabolicDisease #RareDisease #Health #Treatment #HealthSupport #NHS #Diagnosis #InheritedDisease #MetabolicSupportUK #DNA #Genetics

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Radio Review: Davy Tennison reflects on Scott Bennett’s stand-up special on BBC Sounds: ‘Blood Sugar Baby’. Read more in BioNews for free: www.progress.org.uk/radio-review...

#RareDisease #Diagnosis #Health #CHI #BloodSugar #ScottBennett #MakeRareFair #genomics #genetics #DNA

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Preview
Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely? This episode of the https://www.spreaker.com/show/progress-educational-trust-podcast discusses how we might improve access to genetic and genomic testing, and related services, for people and families affected by rare disease. The discussion is chaired by Sarah Norcross (Director of PET), with contributions from: ⚫ Dr Sarah Wynn (Lead for Genetics and Genomics at the NIHR Exeter Biomedical Research Centre) ⚫ Miranda Durkie (Chief Medical Officer at Genomics England) ⚫ Professor Emma Baple (Lead for Genetics and Genomics at the NIHR Exeter Biomedical Research Centre) ⚫ Dr Ellen Thomas (Chief Medical Officer at Genomics England) ⚫ Adam Clatworthy (Co-Founder of CRELD1 Warriors) A disease that affects fewer than one in 2,000 people is generally considered 'rare'. However, such rare diseases are so common in the aggregate that they affect around one in 17 people at some point during their lives. Four-fifths of rare diseases are known to have a basis in people's genomes, either in inherited DNA or in de novo variants (differences in DNA that owe nothing to the previous generation). For this reason, genetic and genomic testing – ideally, whole genome sequence analysis – can be crucial in establishing diagnoses, and guiding treatment, for those who are thought to have a rare disease. In the UK, these facts have been emphasised in official documents and Government statements going back more than a decade. The https://www.gov.uk/government/publications/rare-diseases-strategy of 2013 committed 'all four countries of the UK' to 'making high quality diagnostic tests accessible'. The https://www.gov.uk/government/publications/uk-rare-diseases-framework of 2021 identified 'helping patients get a final diagnosis faster' as the first of the UK's 'priorities for the next five years'. Those five years have almost elapsed, so where do we stand now? Several services and resources seek to make rare disease genomic testing more accessible and useful. These include NHS England's https://www.england.nhs.uk/genomics/nhs-genomic-med-service/ and https://www.england.nhs.uk/publication/national-genomic-test-directories/, the https://www.genomics.nhs.scot/test-directories/, and guidance such as the Association for Clinical Genomic Science's https://www.acgs.uk.com/media/12533/_media_12533_uk-practice-guidelines-for-variant-classification-v12-2024.pdf and the British Society for Genetic Medicine's guidance https://bsgm.org.uk/media/12577/bsgm-managing-incidental-findings-guidance.pdf. However, challenges remain. Turnaround times for various parts of the genomic testing process – patient access to the relevant test, receipt of test results from an appropriate clinician and in an appropriate fashion, and follow-up and referral (where these are necessary) – are not always consistent, and can be overly long. This can then extend the 'diagnostic odyssey' that is too often experienced by rare disease patients and their families. A Working Group spanning various professions and organisations has published a https://doi.org/10.1136/jmg-2024-110228 detailing these and other challenges, and making recommendations to address them. In this podcast, experts and advocates including authors of the Position Statement explore rare disease genomic testing, and discuss how to make it equitable and timely. PET is grateful to the the NIHR Exeter Biomedical Research Centre for supporting this discussion. PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast. Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.

📣 New Podcast! "Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?" on @Spreaker #healthpolicy #makerarefair #raredisease #rarediseases

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EVENT NEXT WEEK! 📢

Rare #Metabolic Diseases: Advancing Understanding, Improving Outcomes
12 Nov 2025, 5.30PM (GMT)

A free online event about how to improve diagnosis, treatment and support for people affected by rare metabolic diseases.

Book now! www.progress.org.uk/event/metabo...

#MakeRareFair

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TOMORROW NIGHT!! ⏰

Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?

Wednesday 22 October
5.30PM (BST), Online via Zoom

Book your FREE place now - progress.org.uk/event/rare-d...

#MakeRareFair

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Upcoming Wednesday Night with PET - next week! 🥳

Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?

Wednesday 22 October
5.30PM (BST), Online via Zoom

Book your place now - progress.org.uk/event/rare-d...

#MakeRareFair

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Come and join me at this PET event on 22nd Oct 5.30-7.30PM (BST)
A free-to-attend online event exploring how we might improve access to genetic and genomic testing, and related services, for people and families affected by rare disease.
Details here:
lnkd.in/ePZ5mVce
#MakeRareFair

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The work being done by #RareDiseaseDay is vitally important for raising awareness and generating change. This free PET event is how we can help.
#RareDisease Genomic Testing: How Do We Make Access Equitable and Timely? 18 June 2025
www.progress.org.uk/event/make-r...
#makerarefair #genomics

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