Publications

Healthcare professionals must be able to effectively communicate genomic results for the safe delivery of genomic medicine. This paper describes a nationally agreed, cross-professional competency framework that was developed through consensus meetings with clinical, scientific and educational experts. This framework can inform individuals, groups and organisations in the best practices in genomic testing.

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The authors developed a competency framework that outlined the knowledge, skills and behaviours needed to facilitate genomic testing in the NHS. The framework was evaluated through a survey to 239 healthcare professionals and showed that it addressed a need among current and potential users and provided insights to support its wider engagement and adoption.

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Successfully mainstreaming genomic medicine needs nurse and midwife involvement. This study reports on the results of a survey of 153 nurses. It revealed a low confidence in all aspects of genomics but a high appreciation for its importance. This report highlights education gaps, and proposes training aims, to better prepare nurses and midwives.

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This editorial piece introduces InnovAiT’s genomics special issue and frames the issue’s publications in a wider context.

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Primary care supports the embedding of genomics into routine healthcare in many ways, including achieving diagnoses, facilitating referrals, supporting patients and communicating test results. This paper summarises how genomics is likely to present in primary care and the support available for primary care colleagues to embed genomic medicine into practice.

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RISE2 Genomics was created to aid in consistent reporting and evaluation in genomics education. This manuscript discusses what RISE2 Genomics is, how it was created, how it was evaluated and where it can be used. Adoption of RISE2 Genomics will make genomics education reporting more transparent, consistent and comprehensive.

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Two massive open online courses were developed to help healthcare professionals to understand and interpret different types of genomic variant, including variants of uncertain significance. This paper reports on the evaluation of these courses. The evaluation cohort of 92 healthcare professionals demonstrated improved knowledge and a self-reported increased confidence in genomics.

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This briefing paper details the categories of digital technologies available, or imminently available, and maps them to the episodes of clinical activity identified within the FH clinical pathway initiative (CPI) to enable the delivery of FH diagnostic testing to adults

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A massive open online course on whole genome sequencing (WGS) was developed to support the delivery of the 100,000 Genomes Project. NHS healthcare science trainees mentored learners who showed an improved understanding of the WGS technology and its application to healthcare. Mentors added value to the course and valued the professional development opportunity.

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In the UK, the public and private sectors are generating genomic health data. This paper, following interviews with 28 stakeholders representing a wide range of professions, discusses the ethical, legal and social implications this presents. This paper concludes with four policy recommendations to inform future generation of genomic health data.

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This editorial article outlines how genomics will affect GPs. It highlights some areas of genomic medicine that GPs should be aware of as well as noting that clinicians will need to engage with their genomic medicine services.

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Through five patient case studies and videos, this manuscript highlights the potential of genomic technologies, but also the challenges in implementing genomic medicine safely.

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