Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results
Abstract Background Large gene panels are now commonplace for hypertrophic cardiomyopathy (HCM), increasing the yield of uncertain genetic findings. Few resources exist which aim to facilitate communication of HCM genetic test results. We sought to develop, pilot, and refine a communication aid for...
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| Format: | Article |
| Language: | English |
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BMC
2017-11-01
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| Series: | Pilot and Feasibility Studies |
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| Online Access: | http://link.springer.com/article/10.1186/s40814-017-0205-0 |
| _version_ | 1818029809325834240 |
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| author | Yana Smagarinsky Charlotte Burns Catherine Spinks Christopher Semsarian Jodie Ingles |
| author_facet | Yana Smagarinsky Charlotte Burns Catherine Spinks Christopher Semsarian Jodie Ingles |
| author_sort | Yana Smagarinsky |
| collection | DOAJ |
| description | Abstract Background Large gene panels are now commonplace for hypertrophic cardiomyopathy (HCM), increasing the yield of uncertain genetic findings. Few resources exist which aim to facilitate communication of HCM genetic test results. We sought to develop, pilot, and refine a communication aid for probands receiving HCM genetic test results. Methods Development was a multi-step process involving expertise of a multidisciplinary team, literature review, and empirical experience. The aid went through an iterative revision process throughout the piloting phase to incorporate feedback. HCM probands attending a specialized multidisciplinary HCM clinic, aged ≥ 18 years and genetic test results available for disclosure between May and August 2016, or recently received their gene results (January–April 2015) were eligible. A purposive sampling strategy was employed, recruiting those attending clinic during the study period or those who could attend without difficulty. Results We developed and pilot tested a genetic counsellor-led communication aid. Based on clinical expertise, the aid addresses (a) what genetic testing is, (b) implications for the patient, (c) reasoning for variant classification, and (d) implications for the family. Pilot data were sought to assess knowledge, feasibility, and acceptability using a self-report survey 2 weeks post-intervention. Twelve of 13 participants completed the follow-up questionnaire. Participants valued the individualised nature of the aid, recommended use of the aid, and indicated genetic knowledge, and family communication was better facilitated. Iterative modification of images helped to more simply depict important genetic concepts. Conclusions We have developed a tool that is feasible, acceptable, and helpful to patients receiving genetic results. This is an important first step, and trial of the aid to assess effectiveness compared to usual care will follow. |
| first_indexed | 2024-12-10T05:25:35Z |
| format | Article |
| id | doaj.art-8423c99167704690b7c8ba0b20987d89 |
| institution | Directory Open Access Journal |
| issn | 2055-5784 |
| language | English |
| last_indexed | 2024-12-10T05:25:35Z |
| publishDate | 2017-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Pilot and Feasibility Studies |
| spelling | doaj.art-8423c99167704690b7c8ba0b20987d892022-12-22T02:00:41ZengBMCPilot and Feasibility Studies2055-57842017-11-01311910.1186/s40814-017-0205-0Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test resultsYana Smagarinsky0Charlotte Burns1Catherine Spinks2Christopher Semsarian3Jodie Ingles4Agnes Ginges Centre for Molecular Cardiology, Centenary InstituteAgnes Ginges Centre for Molecular Cardiology, Centenary InstituteAgnes Ginges Centre for Molecular Cardiology, Centenary InstituteAgnes Ginges Centre for Molecular Cardiology, Centenary InstituteAgnes Ginges Centre for Molecular Cardiology, Centenary InstituteAbstract Background Large gene panels are now commonplace for hypertrophic cardiomyopathy (HCM), increasing the yield of uncertain genetic findings. Few resources exist which aim to facilitate communication of HCM genetic test results. We sought to develop, pilot, and refine a communication aid for probands receiving HCM genetic test results. Methods Development was a multi-step process involving expertise of a multidisciplinary team, literature review, and empirical experience. The aid went through an iterative revision process throughout the piloting phase to incorporate feedback. HCM probands attending a specialized multidisciplinary HCM clinic, aged ≥ 18 years and genetic test results available for disclosure between May and August 2016, or recently received their gene results (January–April 2015) were eligible. A purposive sampling strategy was employed, recruiting those attending clinic during the study period or those who could attend without difficulty. Results We developed and pilot tested a genetic counsellor-led communication aid. Based on clinical expertise, the aid addresses (a) what genetic testing is, (b) implications for the patient, (c) reasoning for variant classification, and (d) implications for the family. Pilot data were sought to assess knowledge, feasibility, and acceptability using a self-report survey 2 weeks post-intervention. Twelve of 13 participants completed the follow-up questionnaire. Participants valued the individualised nature of the aid, recommended use of the aid, and indicated genetic knowledge, and family communication was better facilitated. Iterative modification of images helped to more simply depict important genetic concepts. Conclusions We have developed a tool that is feasible, acceptable, and helpful to patients receiving genetic results. This is an important first step, and trial of the aid to assess effectiveness compared to usual care will follow.http://link.springer.com/article/10.1186/s40814-017-0205-0Hypertrophic cardiomyopathyCommunication aidPathogenicityVariantGenetic counseling |
| spellingShingle | Yana Smagarinsky Charlotte Burns Catherine Spinks Christopher Semsarian Jodie Ingles Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results Pilot and Feasibility Studies Hypertrophic cardiomyopathy Communication aid Pathogenicity Variant Genetic counseling |
| title | Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results |
| title_full | Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results |
| title_fullStr | Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results |
| title_full_unstemmed | Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results |
| title_short | Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results |
| title_sort | development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results |
| topic | Hypertrophic cardiomyopathy Communication aid Pathogenicity Variant Genetic counseling |
| url | http://link.springer.com/article/10.1186/s40814-017-0205-0 |
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