European Journal of Human Genetics最新文献

As the range and complexity of genomic testing has expanded over the past decade, genetic services need support to provide the best care for patients. Throughout the NHS in England, genetic assistant, associate and practitioner roles (GenPs) have been utilised to tackle some of the issues genetic services are facing. However, to date there is limited information about these roles and the individuals that take these up. The aim of this workforce evaluation was to explore the demographics, career plans and roles of GenPs as well as the benefits and challenges for these individuals to improve service delivery and care for patients. This is a mixed methods study. Firstly, an online survey was sent to current and previous GenPs to which 56 eligible responses were received. Those who completed the survey were invited to take part in focus groups to explore the benefits and challenges of these roles further. 17 GenPs expressed interest and 11 took part. These were recorded, transcribed verbatim and thematically analysed to extract themes. Our results show the majority of GenPs are relatively young, highly educated women. There is variability between tasks performed by individuals in these roles even with the same job titles highlighting the need for a defined scope to ensure appropriate boundaries of the role. Many GenPs are interested in becoming genetic counsellors but pathways into this career is a source of frustration.

Risk exists throughout medicine. Understanding health system pressure points permits implementation of controls for risk reduction. The literature lacks a systematic approach to risk evaluation in Clinical Genetics. We aimed to develop Clinical Genetics-specific risk assessment tools to prospectively monitor risk. A retrospective review of 115 cases with identified adverse events or near misses in Clinical Genetics in Ireland was used to design a process map to define the steps where risk occurs across the patient journey through clinical genetics. We piloted a clinical audit form using the process map to capture risk event frequency. The draft process map and audit form were trialled (2022-2023) in 5 other European clinical genetics centres for validity and usability, and 2 re-audited in 2024 to assess utility. Using narrative summaries from the case review, we modified the national health risk severity scoring for clinical genetics use. The design of the risk process map, risk frequency audit and severity assessment align with Failure Modes and Effect Analysis methodology. Adverse events occurred in >3% of appointments in 4 of 6 centres (range 0.8-20.3%). High frequency failure modes varied by centre and included consent, sample processing, and patient discussion. Re-audit results reflected interventions introduced since initial audit. We propose these tools provide a standardized approach to discussing systematic risk in clinical genetics, and can be used to prospectively monitor adverse events, allowing controls to be put in place, reducing risk, thereby improving quality of service.

Research has shown that the present-day population on the Indian subcontinent derives its ancestry from at least three components identified with pre-Indo-Iranian agriculturalists once inhabiting the Iranian plateau, pastoralists originating from the Pontic-Caspian steppe and ancient hunter-gatherer related to the Andamanese Islanders. The present-day Indian gene pool represents a gradient of mixtures from these three sources. However, with more sequences of ancient and modern genomes and fine structure analyses, we can expect a more complex picture of ancestry to emerge. Focusing on Dravidian linguistic groups, this study proposes a fourth putative source potentially branching from the basal Middle Eastern component that contributed to the Iranian plateau farmer related ancestry. The Elamo-Dravidian theory and the linguistic phylogeny of the Dravidian family tree provide chronological fits for the genetic findings presented here. Our findings show a correlation between the linguistic and genetic lineages in language communities speaking Dravidian languages when they are modelled together. We suggest that this source we identified in the Koraga tribe, which we shall call 'Proto-Dravidian' ancestry, emerged around the dawn of the Indus Valley civilisation. This ancestry is distinct from all other sources described so far, and its plausible origin not later than 4400 years ago on the region between the Iranian plateau and the Indus valley supports a Dravidian heartland before the arrival of Indo-European languages on the Indian subcontinent. Admixture analysis shows that this Proto-Dravidian ancestry is still carried by most modern inhabitants of the Indian subcontinent other than the tribal populations.