scholarly journals Expanding clinical genetics services in a rural state in the post-genomic, technology-connected age: A dispatch from Mississippi

2020 ◽  
Vol 4 (3-4) ◽  
pp. 169-177
Author(s):  
Brian Kirmse
Keyword(s):  
Clinical Genetics ◽  
Genomic Technology ◽  
Genetics Services ◽  
Rural State ◽  
Clinical Genetics Services

Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years

2021 ◽  
pp. jmedgenet-2021-107742
Author(s):  
Alice Garrett ◽  
Sabrina Talukdar ◽  
Louise Izatt ◽  
Angela F Brady ◽  
Sinead Whyte ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Pathogenic Variant ◽  
Her2 Status ◽  
Clinical Genetics ◽  
Premenopausal Breast Cancer ◽  
Genetic Test Results ◽  
Genetics Services ◽  
Clinical Genetics Services ◽  
The Impact

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.

scholarly journals Impact of direct-to-consumer genetic testing on Australian clinical genetics services

2020 ◽  
Vol 63 (9) ◽  
pp. 103968
Author(s):  
Michael Millward ◽  
Jane Tiller ◽  
Michael Bogwitz ◽  
Helen Kincaid ◽  
Shelby Taylor ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Genetics ◽  
Direct To Consumer ◽  
Genetics Services ◽  
Clinical Genetics Services

scholarly journals Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom

2016 ◽  
Vol 18 (9) ◽  
pp. 876-881 ◽  
Author(s):  
Daniele Carrieri ◽  
Anneke M. Lucassen ◽  
Angus J. Clarke ◽  
Sandi Dheensa ◽  
Shane Doheny ◽  
...  
Keyword(s):  
United Kingdom ◽  
Clinical Practice ◽  
Clinical Genetics ◽  
The United Kingdom ◽  
Genetics Services ◽  
Clinical Genetics Services

scholarly journals Impact of direct-to-consumer genetic testing on Australian clinical genetics services

2020 ◽  
Author(s):  
Michael Millward ◽  
Jane Tiller ◽  
Michael Bogwitz ◽  
Helen Kincaid ◽  
Shelby Taylor ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Risk ◽  
Online Survey ◽  
Third Party ◽  
Clinical Genetics ◽  
Direct To Consumer ◽  
Risk Estimates ◽  
Genetics Services ◽  
Clinical Genetics Services ◽  
The Impact

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.

Outcome measures for clinical genetics services: A comparison of genetics healthcare professionals and patients’ views

Health Policy ◽  
2007 ◽  
Vol 84 (1) ◽  
pp. 112-122 ◽  
Author(s):  
Katherine Payne ◽  
Stuart G. Nicholls ◽  
Marion McAllister ◽  
Rhona MacLeod ◽  
Ian Ellis ◽  
...  
Keyword(s):  
Outcome Measures ◽  
Healthcare Professionals ◽  
Clinical Genetics ◽  
Genetics Services ◽  
Clinical Genetics Services
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