Cascade testing for inherited arrhythmia conditions: Experiences and attitudes of family communication approaches for a Canadian cohort

2022 ◽  
Author(s):  
Amy Ho ◽  
Emma Leach ◽  
Alice Virani ◽  
Laura Arbour ◽  
Kirsten Bartels ◽  
...  
Keyword(s):  
Family Communication ◽  
Cascade Testing ◽  
Inherited Arrhythmia

scholarly journals Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Gemme Campbell-Salome ◽  
Laney K. Jones ◽  
Max F. Masnick ◽  
Nephi A. Walton ◽  
Catherine D. Ahmed ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Family Communication ◽  
Design Thinking ◽  
Genetic Disorder ◽  
Pragmatic Trial ◽  
The United States ◽  
Atherosclerotic Cardiovascular Disease ◽  
Patient Centered ◽  
Cascade Testing ◽  
Increased Risk

Background: Familial hypercholesterolemia (FH) is the most common cardiovascular genetic disorder and, if left untreated, is associated with increased risk of premature atherosclerotic cardiovascular disease, the leading cause of preventable death in the United States. Although FH is common, fatal, and treatable, it is underdiagnosed and undertreated due to a lack of systematic methods to identify individuals with FH and limited uptake of cascade testing. Methods and Results: This mixed-method, multi-stage study will optimize, test, and implement innovative approaches for both FH identification and cascade testing in 3 aims. To improve identification of individuals with FH, in Aim 1, we will compare and refine automated phenotype-based and genomic approaches to identify individuals likely to have FH. To improve cascade testing uptake for at-risk individuals, in Aim 2, we will use a patient-centered design thinking process to optimize and develop novel, active family communication methods. Using a prospective, observational pragmatic trial, we will assess uptake and effectiveness of each family communication method on cascade testing. Guided by an implementation science framework, in Aim 3, we will develop a comprehensive guide to identify individuals with FH. Using the Conceptual Model for Implementation Research, we will evaluate implementation outcomes including feasibility, acceptability, and perceived sustainability as well as health outcomes related to the optimized methods and tools developed in Aims 1 and 2. Conclusions: Data generated from this study will address barriers and gaps in care related to underdiagnosis of FH by developing and optimizing tools to improve FH identification and cascade testing.

scholarly journals Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Suzanne C. O’Neill ◽  
Jada G. Hamilton ◽  
Claire C. Conley ◽  
Beth N. Peshkin ◽  
Rosalba Sacca ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Peer Support ◽  
Family Communication ◽  
Genetic Risk ◽  
Family Members ◽  
Risk Information ◽  
Cancer Genetic ◽  
Genetic Risk Information ◽  
Cascade Testing ◽  
Support Model

AbstractConsensus and evidence suggest that cascade testing is critical to achieve the promise of cancer genetic testing. However, barriers to cascade testing include effective family communication of genetic risk information and family members’ ability to cope with genetic risk. These barriers are further complicated by the developmental needs of unaffected family members during critical windows for family communication and adaptation. Peer support could address these barriers. We provide two illustrative examples of ongoing BRCA1/2-related clinical trials that apply a peer support model to improve family communication and functioning. Peer support can augment currently available genetic services to facilitate adjustment to and effective use of cancer genetic risk information. Importantly, this scalable approach can address the presence of cancer risk within families across multiple developmental stages. This applies a family-centered perspective that accommodates all potentially at-risk relatives. This peer support model can be further applied to emerging topics in clinical genetics to expand reach and impact.

scholarly journals Family Communication and Cascade Testing for Fragile X Syndrome

2016 ◽  
Vol 25 (5) ◽  
pp. 1075-1084 ◽  
Author(s):  
Melissa Raspa ◽  
Anne Edwards ◽  
Anne C. Wheeler ◽  
Ellen Bishop ◽  
Donald B. Bailey
Keyword(s):  
Fragile X Syndrome ◽  
Family Communication ◽  
Fragile X ◽  
Cascade Testing

Cascade testing für erbliche Tumorerkrankungen: Eine Meta-Analyse

2020 ◽  
Author(s):  
A Lackner ◽  
X Li ◽  
R Kahn ◽  
Nelson B Baltich ◽  
H Krinsky ◽  
...  
Keyword(s):  
Cascade Testing

Pengaruh Komunikasi Positif dalam Keluarga dan Komunikasi Interpersonal Guru terhadap Perilaku Asertif Siswa

2017 ◽  
Vol 1 (2) ◽  
Author(s):  
Ardianto .
Keyword(s):  
Interpersonal Communication ◽  
Family Communication ◽  
Simple Random Sampling ◽  
Significance Test ◽  
Positive Communication ◽  
12Th Grade ◽  
Interpersonal Communications ◽  
The Family ◽  
Research Population ◽  
Assertive Behavior

This study aims to perform a significance test of (1) the positive communication within the family on students’ assertive behavior, (2) the teachers’ interpersonal communication on students’ assertive behavior, and (4) the positive family communication and teachers’ interpersonal communication simultaneously on students’ assertive behavior. This is a quantitative study using a survey questionnaire in data collection. This research is conducted at MAN Model Manado. The research population is all students of the 10th, 11th, and 12th grade, totaling 1406. The sample size of 87 students is selected by a simple random sampling. The results show that (1) while the level of the positive communication within the family, and of the students’ assertive behaviour perceived by the students is relatively low, the level of the teachers’ interpersonal communication is relatively high; (2) a  positive communication within the family has a significant effect on students’ assertive behavior; (3) an  interpersonal communication has a significant effect on students’ assertive behavior; and (4)  a positive family communication and teachers’ interpersonal communication simultaneously have a significant effect on students’ assertive behavior.Keywords: Positive communications within family, teachers’ interpersonal communications, students’ assertive behaviors

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