The role of emotional sensitivity to probability in the decision to choose genetic testing

2021 ◽  
Author(s):  
Heather P. Lacey ◽  
Steven C. Lacey ◽  
Caroline Forest ◽  
Dana Blasi ◽  
Prerna Dayal
Keyword(s):  
Genetic Testing ◽  
Emotional Sensitivity

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

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 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.

Hypertrophic cardiomyopathy: genetics

ESC CardioMed ◽  
2018 ◽  
pp. 1443-1450
Author(s):  
Mohammed Majid Akhtar ◽  
Luis Rocha Lopes
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Mapk Pathway ◽  
Glycogen Storage ◽  
Cellular Level ◽  
Causative Mutation ◽  
Clinical Role ◽  
Genes Encoding ◽  
Associated Proteins

Hypertrophic cardiomyopathy is most commonly transmitted as an autosomal dominant trait, caused by mutations in genes encoding cardiac sarcomere and associated proteins. Knowledge of the genetic pathophysiology of the disease has advanced significantly since the initial identification of a point mutation in the beta-myosin heavy chain (MYH7) gene in 1990. Other genetic causes of the disease include mutations in genes coding for proteins implicated in calcium handling or which form part of the cytoskeleton. The recent emergence of next-generation sequencing allows quicker and less expensive identification of causative mutations. However, a causative mutation is not identified in up to 50% of probands. At present, the primary clinical role of genetic testing in hypertrophic cardiomyopathy is in the context of familial screening, allowing the identification of those at risk of developing the condition. Genetic testing can also be used to exclude genocopies, particularly in the presence of certain diagnostic ‘red flag’ features, where lysosomal, glycogen storage, neuromuscular or Ras-MAPK pathway disorders may be suspected. The role of individual mutations in predicting prognosis is limited at present. However, the higher incidence of sudden cardiac death in the presence of a family history of such, suggests that genetics play a significant role in determining outcome. With an increased understanding of the impact of these mutations on a cellular level and on longer-term clinical outcomes, the aim in future for gene and mutation specific prognosis or potential disease-modifying therapy is closer.

Resource document for curriculum development in cancer genetics education. American Society of Clinical Oncology.

1997 ◽  
Vol 15 (5) ◽  
pp. 2157-2169 ◽  
Keyword(s):  
Genetic Testing ◽  
Clinical Oncology ◽  
Social Issues ◽  
Cancer Genetics ◽  
Cancer Predisposition ◽  
Genetics Education ◽  
Formal Instruction ◽  
Curriculum Guidelines ◽  
American Society

PURPOSE The rapid growth in the use of genetic testing for heritable cancers and other diseases has led to the establishment of many committees to assess the status and future implications of such testing. The American Society of Clinical Oncology (ASCO) published a statement on genetic testing for cancer susceptibility in May 1996. In that statement, ASCO recognized the need for a major initiative to develop courses and other educational materials for ASCO members and other health care professionals that were pertinent to cancer genetics and the role of cancer predisposition testing in clinical oncology. These curriculum guidelines represent an effort to promote formal instruction on the assessment and management of familial cancer risks in training programs and continuing education courses. DESIGN AND RESULTS An Ad hoc Task Force was created from the ASCO membership and other professional organizations. Goals of ASCO's cancer genetics education initiative, curriculum guidelines, and plans for implementation of the curriculum have been developed. To gain understanding and competency in cancer genetics and cancer predisposition testing, the curriculum emphasizes formal instruction in: (1) basic concepts and principles of genetics; (2) an understanding of the role of genetics in the etiology, diagnosis, and management of different malignancies; (3) an understanding of the ethical, legal, and social issues that surround predisposition testing; and (4) long-term management plans for individuals at high risk for cancer. This document is broad in scope and applicable to all types of malignancies. It should be considered as the framework around which cancer genetics education is developed. It is expected that implementation of training activities over the next few years will allow ASCO to fulfill its obligations to the membership. CONCLUSION This curriculum should prove a valuable guide to those who wish further education on cancer genetics and the appropriate use of cancer predisposition testing.

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