Publications

“To ensure genomic medicine is delivered safely and effectively, it is crucial that healthcare professionals are able to understand and communicate genomic results. This Education Innovation describes a nationally agreed, cross-professional competency framework outlining the knowledge, skills and behaviors required to communicate genomic results. Using principles of the nominal group technique, consensus meetings with clinical,…

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“Purpose: The study aimed to develop a nationally agreed, cross-professional competency framework outlining the knowledge, skills, and behaviors required to facilitate genomic tests. “Methods: Using principles of the nominal group technique, a consensus meeting with 25 experts mapped themes to an initial framework and voted on areas of inconsistency. A revised framework was open for…

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“The United Kingdom is recognised worldwide as a leader in genomics. The use of genomic technologies in the National Health Service (NHS) is expected to deliver faster and more accurate diagnoses, supporting personalized treatments to improve patient outcomes. The ambition of embedding genomic medicine in the diagnostic pathway requires involvement of the front-line clinical workforce,…

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“Welcome to this InnovAiT special issue on genomics. Dame Sally Davies, in her annual Chief Medical Officer (CMO) report ‘Generation Genome’ stated: ‘Genomics is not tomorrow. It’s here today’. “Genomics, alongside digital technologies, artificial intelligence and robotics, incorporates technological developments likely to change the NHS over the next two decades, with the promise of delivering…

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Findings from the GEP's 2022 survey of AHPs on their awareness of genomics in healthcare

• Publications

“Purpose: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development,…

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“Background: The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic variants of uncertain significance (VUS). The rigorous process of interpreting these variants requires multi-disciplinary, highly trained healthcare professionals (HCPs). To…

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The North East and Yorkshire Genomics Medicine Service Alliance (NEY GMSA), in collaboration with Academic Health Science Network North East and North Cumbria (AHSN NENC), has produced a briefing paper discussing the digital solutions that could support the clinical pathway and service development in identifying individuals with familial hypercholesterolaemia (FH). FH, an inherited condition that…

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“To support the delivery of the UK’s 100,000 Genomes Project, Health Education England’s Genomics Education Programme developed a suite of resources, including a 3-week Massive Open Online Course (MOOC) on whole genome sequencing via the FutureLearn platform. This MOOC is a synchronous learning event, with course educators and mentors (NHS healthcare science trainees in genomics)…

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“In the UK, genomic health data is being generated in three major contexts: the healthcare system (based on clinical indication), in large scale research programmes, and for purchasers of direct-to-consumer genetic tests. The recently delivered hybrid clinical/research programme, 100,000 Genomes Project set the scene for a new Genomic Medicine Service, through which the National Health…

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“‘The NHS will need to be ready to use genomics as part of its routine care.’ But how will genomics impact on primary care and what is needed for primary care to be genomics-ready? “While genetics focuses on DNA coding for single functional genes, genomics is the study of the entirety of our DNA, recognising…

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“Powerful new genomic technologies are transforming healthcare. The faster, cheaper generation of genomic data is driving the integration of genomics into all healthcare specialties. Within the next decade, healthcare professionals will be using genomic data to diagnose and manage their patients. “However, despite these exciting advances, few clinicians are aware of or prepared for this…

• Publications