The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication

Harris, Stephanie; Cirino, Allison L.; Carr, Christina; Tafessu, Hiwot M.; Parmar, Siddharth; Greenberg, Jack J.; Szent-Gyorgyi, Lara E.; Ghazinouri, Roya; Glowny, Michelle G.; McNeil, Kara; Kaynor, E; Neumann, Catherine M.; Seidman, Christine E.; MacRae, Calum A.; Ho, Carolyn Y.; Lakdawala, Neal K.

doi:10.1002/mgg3.940

Cited by 14 publications

(14 citation statements)

References 30 publications

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“…While family communication and risk disclosure are well‐studied, further understanding is also needed for the second step of the process: the relatives’ decisions around seeking cascade testing. Studies related to disclosure of genetic risk showed that probands generally did inform at least some relatives, but the uptake of testing did not necessarily reflect the number of people who were informed (Harris et al., 2019). This suggests that the factors impacting relatives’ understanding and decisions also play an important role.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to ensuring at‐risk relatives are notified, direct contact is also potentially more cost‐effective (Newson & Humphries, 2005). Direct contact methods have been used in the US and European countries for studies related to the family communication of genetic risk, and patient perspectives on direct contact found that the response was generally positive, with many of the participants feeling that direct contact was acceptable (Aktan‐Collan et al., 2007; Hammer et al., 2000; Harris et al., 2019; Kerzin‐Storrar et al., 2002; van Maarle et al., 2001; Marteau et al., 2004; Schwiter et al., 2020; Wilcke et al., 2000; Wright et al., 2002). However, the ethical considerations related to direct contact imply that it is not a ‘one size fits all’ approach; the severity and penetrance of a condition, availability of intervention, and balance of potential harm are all taken into consideration (Offit et al., 2004).…”

Section: Discussionmentioning

confidence: 99%

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

Leach

Virani

et al. 2022

Journal of Genetic Counseling

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Inherited arrhythmia conditions (IAC) can lead to sudden cardiac death at any age, and relatives of an affected person have up to a 50% chance of inheriting the condition and are at risk for developing features. Cascade testing is a stepwise approach for identifying relatives at risk for IACs through clinical screening and genetic testing. Early detection can reduce morbidity and mortality for affected individuals and determine potential risk mitigation strategies for relatives. However, cardiovascular genetic studies have reported an incomplete uptake of cascade testing in at-risk relatives. We explored patient perspectives on cascade testing for IACs and alternative approaches to family communication. Twelve semi-structured phone interviews were conducted with probands of the British Columbia Inherited Arrhythmia Program confirmed to carry a pathogenic or likely pathogenic variant in a gene associated with an IAC. Thematic analysis of transcripts through an iterative coding process revealed five main themes: (a) a stepwise approach is followed in disclosing risk to relatives, (b) relatives' autonomy in cascade testing is supported, (c) lived experience with the condition influences disclosure and uptake of cascade testing, (d) collaborative approach to informing relatives reduces negative impact of disclosure, and (e) direct contact from a healthcare provider is viewed as acceptable. The findings highlight this patient cohort's experiences and opinions with approaches to disclosure and demonstrate their understanding and acceptance of their relatives' approaches to cascade testing.In addition, while the notion of direct contact was generally accepted, a collaborative approach to contacting relatives between the proband and provider may be most effective.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Leach

Virani

et al. 2022

Journal of Genetic Counseling

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“…In studies describing cascade screening, often the participation of relatives is limited. [343][344][345][346][347][348] This implies that many persons carrying pathogenic variants remain undiagnosed and are at continued risk of sudden death. Increasingly, geneticists and other stakeholders plea for an active approach to cascade testing for conditions where interventions are available.…”

Section: Investigation Of the Family: Cause Identified-cascade Testing Clinical And Genetic Investigationsmentioning

confidence: 99%

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

et al. 2021

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This international multidisciplinary document intends to provide clinicians with evidence-based practical patient-centered recommendations for evaluating patients and decedents with (aborted) sudden cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were Developed in partnership with and endorsed by the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS). Developed in collaboration with and endorsed by the Association for European Cardiovascular Pathology (AECVP), the European Society of Human Genetics (ESHG), the Latin American Heart Rhythm Society (LAHRS), the National Society of Genetic Counselors (NSGC), and the Pediatric and Congenital Electrophysiology Society (PACES). Developed in collaboration with the European Heart Rhythm Association (EHRA). For copies of this document, please contact the Elsevier Inc. Reprint Department

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“…In studies describing cascade screening, often the participation of relatives is limited 343–348 . This implies that many persons carrying pathogenic variants remain undiagnosed and are at continued risk of sudden death.…”

Section: Investigation Of the Familymentioning

confidence: 99%

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

Stiles

Wilde

Abrams

et al. 2021

Journal of Arrhythmia

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This international multidisciplinary document intends to provide clinicians with evidence‐based practical patient‐centered recommendations for evaluating patients and decedents with (aborted) sudden cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by Class of Recommendation and Level of Evidence. The recommendations were opened for public comment and reviewed by the relevant scientific and clinical document committees of the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS); the document underwent external review and endorsement by the partner and collaborating societies. While the recommendations are for optimal care, it is recognized that not all resources will be available to all clinicians. Nevertheless, this document articulates the evaluation that the clinician should aspire to provide for patients with sudden cardiac arrest, decedents with sudden unexplained death, and their families.

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The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication

Cited by 14 publications

References 30 publications

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

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

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

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