Analytical resources for assessment of clinical genetics services in public health: Current status and future prospects

Teratology ◽  
2000 ◽  
Vol 61 (1-2) ◽  
pp. 9-16 ◽  
Author(s):  
Russell S. Kirby
2021 ◽  
pp. jmedgenet-2021-107742
Author(s):  
Alice Garrett ◽  
Sabrina Talukdar ◽  
Louise Izatt ◽  
Angela F Brady ◽  
Sinead Whyte ◽  
...  

BackgroundThe most common cancer diagnosed in germline TP53 pathogenic variant (PV) carriers is premenopausal breast cancer. An increased rate of breast tumour HER2 positivity has been reported in this group. Screening for breast/other cancers is recommended in PV carriers.Objectives1. To assess the frequency of germline TP53 PVs reported diagnostically in women with breast cancer at <30 years of age.2. To evaluate the impact of personal/family history and HER2 status on the likelihood of germline TP53 pathogenic/likely pathogenic variant (PV/LPV) identification.MethodsGenetic test results from patients undergoing diagnostic germline TP53 tests between 2012 and 2017 in the four London Regional Clinical Genetics Services were reviewed. Clinical/pathology data and family history were extracted from genetics files for women diagnosed with breast cancer at <30 years.ResultsThe overall germline TP53 PV/LPV variant detection rate was 9/270=3.3% in all women diagnosed with breast cancer at <30 years and 2/171=1.2% in those with no second/subsequent cancer diagnosis or family history of TP53-spectrum cancers. Breast cancers were significantly more likely to be HER2-positive in TP53 PV/LPV carriers than in non-carriers (p=0.00006).ConclusionsGermline TP53 PVs/LPVs are uncommon among women diagnosed with breast cancer aged <30 years without other relevant personal or family cancer history but have an important clinical impact when identified.


2020 ◽  
Vol 63 (9) ◽  
pp. 103968
Author(s):  
Michael Millward ◽  
Jane Tiller ◽  
Michael Bogwitz ◽  
Helen Kincaid ◽  
Shelby Taylor ◽  
...  

2016 ◽  
Vol 18 (9) ◽  
pp. 876-881 ◽  
Author(s):  
Daniele Carrieri ◽  
Anneke M. Lucassen ◽  
Angus J. Clarke ◽  
Sandi Dheensa ◽  
Shane Doheny ◽  
...  

2020 ◽  
Author(s):  
Michael Millward ◽  
Jane Tiller ◽  
Michael Bogwitz ◽  
Helen Kincaid ◽  
Shelby Taylor ◽  
...  

AbstractPurposeThe increasing popularity of direct-to-consumer genetic testing (DTCGT) is thought to be creating a burden on clinical genetic health services worldwide. However, no studies have collected recent evidence regarding the extent of this impact in Australia.MethodsWe administered an online survey to Australian clinical genetics services, asking questions related to DTCGT-related referrals received and outcomes over the past 10 years.ResultsEleven publicly-funded clinical genetics services completed the survey, reporting over 100 DTCGT-related referrals. Most referrals (83%) were made by general practitioners seeking interpretation of DTCGT results. More than 30% of referrals related to imputed genetic risk estimates generated from third-party web-based software tools. Services reported low validation rates for DTCGT results (<10%). Procedures for managing DTCGT referrals and granting appointments were variable between services, with most services (8/11) lacking specific procedures.ConclusionOur study helps quantify the impact of DTCGT on clinical genetics services, and highlights the impact of imputed genetic risk estimates generated from third-party software.


Author(s):  
F. Schaffner ◽  
D. Bansal ◽  
K. Mardini ◽  
S.A. Al-Marri ◽  
M.H.J. Al-Thani ◽  
...  

Vector-borne diseases (VBDs) have re-emerged worldwide due to urbanisation, increase in travel and climate change, becoming a major and serious threat to global public health. In Qatar, the concern has recently risen because of the attribution of the soccer 2022 FIFA World Cup Qatar™, which necessitates fulfilling requirements in terms of prevention and preparedness for disease transmission, including VBDs. This review presents a general overview about current status of vectors and VBDs in Qatar and addresses key challenges and future prospects of control programmes and strategies. It is based on a vector control situation analysis and needs assessment performed during an expert mission in Qatar, November 2017, organised by the WHO Eastern Mediterranean Regional Office and achieved in collaboration with the Ministry of Public Health of Qatar and other local stakeholders. The situation of vectors and VBDs of public health importance in Qatar was analysed based on a systematic literature review by December 31, 2019. The literature reveals that no locally transmitted VBD cases have been recorded in Qatar, but cases were recorded among expatriate workers and travellers who returned from an endemic country. However, data on VBD cases remain scarce except for malaria. The presence of native arthropod vectors is under-recorded to date. A compilation of literature data revealed reports of 30 vector species, including 20 mosquitoes, 2 fleas, 1 louse, 1 fly, and 6 ticks. Overall, Qatar benefits currently from a good surveillance of some VBDs (malaria) and has some capacities in vector control, but no national plan exists, and vector surveillance is in its infancy. In Qatar, clear needs exist in capacity in epidemiology and vector entomology, as well as on the organisational level, and a number of measures are suggested to mitigate and improve VBD risk assessment and management. There is an urgent need to define sustainable solutions for VBD control, management and prevention, and a number of recommendations are suggested.


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