Literature DB >> 29175646

Communication of genetic information to families with inherited rhythm disorders.

Charlotte Burns1, Cynthia James2, Jodie Ingles3.   

Abstract

Given the dynamic nature of the electrical activity of the heart and ongoing challenges in the diagnostics of inherited heart rhythm disorders, genetic information can be a vital aspect of family management. Communication of genetic information is complex, and the responsibility to convey this information to the family lies with the proband. Current practice falls short, requiring additional support from the clinician and multidisciplinary team. Communication is a 2-part iterative process, reliant on both the understanding of the probands and their ability to effectively communicate with relatives. With the surge of high-throughput genetic testing, results generated are increasingly complex, making the task of communication more challenging. Here we discuss 3 key issues. First, the probabilistic nature of genetic test results means uncertainty is inherent to the practice. Second, secondary findings may arise. Third, personal preferences, values, and family dynamics also come into play and must be acknowledged when considering how best to support effective communication. Here we provide insight into the challenges and provide practical advice for clinicians to support effective family communication. These strategies include acknowledging and managing genetic uncertainty, genetic counseling and informed consent, and consideration of personal and familial barriers to effective communication. We will explore the potential for developing resources to assist clinicians in providing patients with sufficient knowledge and support to communicate complex information to their at-risk relatives. Specialized multidisciplinary clinics remain the best equipped to manage patients and families with inherited heart rhythm disorders given the need for a high level of information and support.
Copyright © 2017 Heart Rhythm Society. All rights reserved.

Entities:  

Keywords:  Communication; Genetic counseling; Genetic testing; Multidisciplinary care; Uncertainty

Mesh:

Year:  2017        PMID: 29175646     DOI: 10.1016/j.hrthm.2017.11.024

Source DB:  PubMed          Journal:  Heart Rhythm        ISSN: 1547-5271            Impact factor:   6.343


  10 in total

1.  Family Relationships Associated With Communication and Testing for Inherited Cardiac Conditions.

Authors:  Lisa L Shah; Sandra Daack-Hirsch; Anne L Ersig; Anthony Paik; Ferhaan Ahmad; Janet Williams
Journal:  West J Nurs Res       Date:  2018-12-12       Impact factor: 1.967

2.  Patient characteristics, experiences and perceived value of pharmacogenetic testing from a single testing laboratory.

Authors:  Susanne B Haga; Yiling Liu
Journal:  Pharmacogenomics       Date:  2019-06       Impact factor: 2.533

3.  Perceptions of genetic variant reclassification in patients with inherited cardiac disease.

Authors:  Eugene K Wong; Kirsten Bartels; Julie Hathaway; Charlotte Burns; Laura Yeates; Christopher Semsarian; Andrew D Krahn; Alice Virani; Jodie Ingles
Journal:  Eur J Hum Genet       Date:  2019-03-21       Impact factor: 4.246

4.  Do research participants share genomic screening results with family members?

Authors:  Julia Wynn; Hila Milo Rasouly; Tania Vasquez-Loarte; Akilan M Saami; Robyn Weiss; Sonja I Ziniel; Paul S Appelbaum; Ellen Wright Clayton; Kurt D Christensen; David Fasel; Robert C Green; Heather S Hain; Margaret Harr; Christin Hoell; Iftikhar J Kullo; Kathleen A Leppig; Melanie F Myers; Joel E Pacyna; Emma F Perez; Cynthia A Prows; Alanna Kulchak Rahm; Gemme Campbell-Salome; Richard R Sharp; Maureen E Smith; Georgia L Wiesner; Janet L Williams; Carrie L Blout Zawatsky; Ali G Gharavi; Wendy K Chung; Ingrid A Holm
Journal:  J Genet Couns       Date:  2021-10-19       Impact factor: 2.717

5.  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.

Authors:  Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal:  Heart Rhythm       Date:  2020-10-19       Impact factor: 6.343

6.  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.

Authors:  Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal:  J Arrhythm       Date:  2021-04-08

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

Authors:  Stephanie Harris; Allison L Cirino; Christina W Carr; Hiwot M Tafessu; Siddharth Parmar; Jeffrey O Greenberg; Lara E Szent-Gyorgyi; Roya Ghazinouri; Michelle G Glowny; Kara McNeil; Efthalia F Kaynor; Catherine Neumann; Christine E Seidman; Calum A MacRae; Carolyn Y Ho; Neal K Lakdawala
Journal:  Mol Genet Genomic Med       Date:  2019-09-03       Impact factor: 2.183

8.  Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions.

Authors:  Lieke M van den Heuvel; Maxiem O van Teijlingen; Wilma van der Roest; Irene M van Langen; Ellen M A Smets; J Peter van Tintelen; Imke Christiaans
Journal:  Circ Genom Precis Med       Date:  2020-08-14

9.  Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

Authors:  Ramon Brugada; Oscar Campuzano; Georgia Sarquella-Brugada; Anna Fernandez-Falgueras; Sergi Cesar; Elena Arbelo; Mónica Coll; Alexandra Perez-Serra; Marta Puigmulé; Anna Iglesias; Mireia Alcalde; Marta Vallverdú-Prats; Victoria Fiol; Carles Ferrer-Costa; Bernat Del Olmo; Ferran Picó; Laura Lopez; Ana García-Alvarez; Paloma Jordà; Coloma Tiron de Llano; Rocío Toro; Simone Grassi; Antonio Oliva; Josep Brugada
Journal:  Hum Genet       Date:  2021-09-21       Impact factor: 5.881

10.  How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population.

Authors:  Lieke Marleen van den Heuvel; Daphne Stemkens; Wendy A G van Zelst-Stams; Floor Willeboordse; Imke Christiaans
Journal:  J Genet Couns       Date:  2019-12-30       Impact factor: 2.537

  10 in total

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