GeNotes: a new online ‘just in time’ genomics resource for healthcare professionals

Copson, Ellen; McVeigh, Terri P; Frost, Amy; Tatton-Brown, Kate

doi:10.7861/fhj.9-2-s68

Cited by 3 publications

(1 citation statement)

References 7 publications

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“…Even genetics-trained HCPs report this as challenging (Vears et al 2020 ). In 2019 the Genomics Education Programme from NHS Health Education England (Pichini and Bishop 2022 ) developed a cross-professional competency framework for consent and communication of germline genomic results to equip healthcare professionals in the delivery of genomic medicine in mainstream settings and initiatives to support genomic testing at the point of contact are ongoing (Copson et al 2022 ). An Irish national genomic mainstreaming framework to upskill HCPs in appropriate genetic test selection, consent and clinical interpretation of genomic data would promote essential genomic literacy in this rapidly evolving field.…”

Section: Discussionmentioning

confidence: 99%

Genetic services survey—experience of people with rare diseases and their families accessing genetic services in the Irish Republic

Ward,

Lambert,

Butterly

et al. 2023

J Community Genet

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Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clinical genetics outpatient appointments, during the study period, were up to two years as staffing levels remain low. A targeted public online survey was conducted in January 2022 to capture the experiences of Rare Disease families trying to access genetic testing and clinical genetic clinics in the Irish Republic. Irish patients experience significant waiting times to access clinical genetic services and self-report anxiety and stress, related to delayed access to diagnosis, clarity around recurrence risk and follow-up management. This negatively impacts personal decisions around family planning, education and employment and has a significant impact on family members seeking clarity on their own risk. Mainstream genetic testing activity is significant. Families report concern over the competency of health care professionals arranging and delivering genetic results and delays in accessing clinical genetics expertise to take them through the clinical implications. Timely access to clinical genetics expertise is important to ensure families with rare diseases have an appropriate understanding of the medical and reproductive implications of a genetic diagnosis and access to relevant care pathways. A national framework to develop competency in genomic literacy for health-care professionals including a national genetic test directory may be beneficial. Clinical genetics teams require ongoing support and investment to ensure the delivery of a safe and effective service for Irish families with rare diseases.

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Section: Discussionmentioning

confidence: 99%

Genetic services survey—experience of people with rare diseases and their families accessing genetic services in the Irish Republic

Ward,

Lambert,

Butterly

et al. 2023

J Community Genet

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Preparing tomorrow's doctors for the genomics era: A nationwide survey of UK medical students

Seed,

Scott,

Peter

et al. 2024

Future Healthcare Journal

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Analysis of Staffing of the Medical and Genetic Service in Ukraine

Turova,

Vezhnovets

2024

Clin. and prev. med.

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Aim. To study the staffing conditions of the medical-genetic service in Ukraine during the period from 2008 to 2022 and to forecast the staffing dynamics until 2026. Materials and Methods: Statistical data from healthcare institutions in Ukraine that provided medical-genetic services during the period from 2008 to 2022 were analyzed, based on reporting forms 21, 17, 49 from the City Health Center website http://medstat.gov.ua/ukr/statdan.html and http://medstat.gov.ua/ukr/statdanMMXIX.html. Single-factor linear regression models were applied for mathematical modeling, with quality assessment conducted using the coefficient of determination R². Calculations were performed using MedCalc® Statistical Software (v.22.009). Results: Compared to 2008, there was a significant reduction in the number of full-time positions of heads of offices (genetic doctors), genetic doctors, and genetic laboratory doctors in Ukraine in 2022 by -45.24%, -24.83%, and -23.39%, respectively. A significant decrease in the number of these positions was determined (p<0.05). In 2022, compared to 2008, there was also a decrease in the staffing rate of all full-time positions with occupied positions of the personnel of centers/offices. Specifically, for genetic doctors, the staffing rate in 2022 was 69.62% compared to 85.37% in 2008, and for genetic laboratory doctors, it was 57.54% compared to 94.62% in 2022 and 2008, respectively. The level of provision of geneticists (individuals) in Ukraine in 2022 was 1.99 per 1 million population, which is -16.03% less than in 2008. Furthermore, compared to 2008, the share of vacant positions for genetic doctors in 2022 increased 2-fold, and for genetic laboratory doctors almost 8-fold. According to the results of mathematical forecasting, in 2026, a further decrease in the availability of genetic doctors to the level of 1.77 per 1 million population is predicted (R²=0.88, p<0.001). Results. Compared to 2008, there was a significant reduction in the number of full-time positions of heads of offices (genetic doctors), genetic doctors, and genetic laboratory doctors in Ukraine in 2022 by -45.24%, -24.83%, and -23.39%, respectively. A significant decrease in the number of these positions was determined (p<0.05). In 2022, compared to 2008, there was also a decrease in the staffing rate of all full-time positions with occupied positions of the personnel of centers/offices. Specifically, for genetic doctors, the staffing rate in 2022 was 69.62% compared to 85.37% in 2008, and for genetic laboratory doctors, it was 57.54% compared to 94.62% in 2022 and 2008, respectively. Furthermore, in comparison with 2008, the share of vacant positions for genetic doctors in 2022 increased in 2-fold, and for genetic laboratory doctors almost in 8-fold. According to the results of mathematical forecasting, in 2026, a further decrease in the availability of genetic doctors to the level of 1.77 per 1 million population is predicted (R²=0.88, p<0.001). Conclusions. Based on the analysis of staffing of the medical-genetic service in Ukraine during the period 2008-2022, conclusions can be drawn about the reduction in the number of full-time positions and the availability of genetic doctors in the medical-genetic service in Ukraine. To ensure proper medical-genetic counseling for the population, it is necessary to develop an effective strategy for improving the organization of the medical-genetic service, capable of providing comprehensive support for patients with genetic pathologies.

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GeNotes: a new online ‘just in time’ genomics resource for healthcare professionals

Cited by 3 publications

References 7 publications

Genetic services survey—experience of people with rare diseases and their families accessing genetic services in the Irish Republic

Genetic services survey—experience of people with rare diseases and their families accessing genetic services in the Irish Republic

Preparing tomorrow's doctors for the genomics era: A nationwide survey of UK medical students

Analysis of Staffing of the Medical and Genetic Service in Ukraine

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