The Role of Financial Factors in Acceptance of Clinical BRCA Genetic Testing

2007 ◽  
Vol 11 (1) ◽  
pp. 101-110 ◽  
Author(s):  
Shannon Kieran ◽  
Lois J. Loescher ◽  
Kyung Hee Lim
Keyword(s):  
Genetic Testing ◽  
Financial Factors ◽  
Brca Genetic Testing

The role of the genetic testing industry in patient education of hereditary cancer: An observational study assessing the quality of pre-test patient education videos

2020 ◽  
Vol 159 (2) ◽  
pp. e22-e23
Author(s):  
Danielle Collins Greenberg ◽  
Daniella Kamara ◽  
Zina Tatsugawa ◽  
Marlene Mendoza ◽  
Elizabeth Pineda ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Patient Education ◽  
Observational Study ◽  
Hereditary Cancer ◽  
Test Patient

Genetic Testing, Genetic Information, and the Role of Maternal-Child Health Nurses in Israel

2006 ◽  
Vol 38 (3) ◽  
pp. 219-224 ◽  
Author(s):  
Sivia Barnoy ◽  
Dorit Appel ◽  
Chava Peretz ◽  
Hana Meiraz ◽  
Mally Ehrenfeld
Keyword(s):  
Genetic Testing ◽  
Child Health ◽  
Genetic Information ◽  
Maternal Child Health ◽  
Maternal Child

Impact of an information booklet on satisfaction and decision-making about BRCA genetic testing

2006 ◽  
Vol 42 (7) ◽  
pp. 871-881 ◽  
Author(s):  
Julien Mancini ◽  
Catherine Noguès ◽  
Claude Adenis ◽  
Pascaline Berthet ◽  
Valerie Bonadona ◽  
...  
Keyword(s):  
Decision Making ◽  
Genetic Testing ◽  
Information Booklet ◽  
Brca Genetic Testing

The role of CACNA1C in Brugada syndrome: prevalence and phenotype of probands referred for genetic testing

Heart Rhythm ◽  
2022 ◽  
Author(s):  
Valeria Novelli ◽  
Mirella Memmi ◽  
Alberto Malovini ◽  
Andrea Mazzanti ◽  
Nian Liu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Brugada Syndrome

scholarly journals Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations

2016 ◽  
Vol 18 (12) ◽  
pp. 1171-1180 ◽  
Author(s):  
Elvira D’Andrea ◽  
Carolina Marzuillo ◽  
Corrado De Vito ◽  
Marco Di Marco ◽  
Erica Pitini ◽  
...  
Keyword(s):  
Systematic Review ◽  
Health Care ◽  
Genetic Testing ◽  
Economic Evaluations ◽  
Brca Genetic Testing

scholarly journals Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan

2020 ◽  
Author(s):  
Huaiyu Gu ◽  
Zhen Zhang ◽  
Yi-shuang Xiao ◽  
Ru Shen ◽  
Hong-chao Jiang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Low Income ◽  
Eastern China ◽  
Low Income Countries ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Bioinformatics Pipeline ◽  
Generation Sequencing

Abstract Background: Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~8,000 children worldwide are diagnosed for retinoblastoma. In high-income countries, patient survival is over 95% while low-income countries is ~30%.If disease is diagnosed early and treated in centers specializing in retinoblastoma, the survival might exceed 95% and many eyes could be safely treated and support a lifetime of good vision. In China, approximate 1,100 newly diagnosed cases are expected annually and 28 hospitals covering 25 provinces established centers classified by expertise and resources for better treatment options and follow-up. Comparing with other province of eastern China, Yunnan province is remote geographically. This might result that healthcare staff have low awareness of the role of genetic testing in management and screening in families.Methods: The patients with retinoblastoma were selected in Yunnan. DNA from blood was used for targeted gene sequencing. Then, an in-house bioinformatics pipeline was done to detect both single nucleotide variants and small insertions/deletions. The pathogenic mutations were identified and further confirmed by conventional methods and cosegregation in families.Results: Using our approach, targeted next generation sequencing was used to detect the mutation of these 12 probands. Bioinformatic predictions showed that nine mutations were found in our study and four were novel pathogenic variants in these nine mutations.Conclusions: It’s the first report to describe RB1 mutations in Yunnan children with retinoblastoma. This study would improve role of genetic testing for management and family screening.

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