Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication
Open Access
- 1 August 2020
- journal article
- research article
- Published by Wiley in Health Expectations
- Vol. 23 (4), 884-892
- https://doi.org/10.1111/hex.13062
Abstract
Background Multi-gene panel testing is replacing single-gene testing for patients with suspected hereditary cancer syndromes. The detection of a hereditary cancer syndrome allows tested individuals to initiate enhanced primary and secondary prevention efforts-where available-with a view to reduce disease burden. Current policy prevents testing programmes from communicating genetic test results with potentially affected family members, yet it is well documented that tested individuals face multiple challenges in initiating such discussions with relatives. Objective In response to this challenge, we sought patient recommendations about how to improve genetic risk communication to enhance interfamilial discussions about primary and secondary disease prevention. Design We conducted 25 semi-structured interviews with individuals who received genetic testing through British Columbia's Hereditary Cancer Program between 2017 and 2018. Interviews were professionally transcribed and analysed using a constant comparative approach. Results Participants described difficulty engaging in conversations with relatives who were resistant to receiving genetic risk information, when communicating with younger relatives and where participants reported strained familial relationships. Participants recommended that testing facilities provide a summary of results and implications and that resources be made available to prepare patients for challenging discussions with family members. Discussion Our study demonstrates that individuals undergoing genetic testing for suspected hereditary cancer syndromes would benefit from additional supportive resources alongside genetic counselling. Providing this on-going support will enhance the accurate and transparent communication of risk to facilitate the uptake of cascade testing and enhanced prevention strategies.Funding Information
- Canadian Institutes of Health Research (PCG‐155555)
- Canadian Cancer Society
This publication has 34 references indexed in Scilit:
- Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to considerJournal of Community Genetics, 2012
- Communicating genetic risk information within families: a reviewFamilial Cancer, 2010
- Genetic health professionals and the communication of genetic information in families: Practice during and after a genetic consultationAmerican Journal of Medical Genetics Part A, 2010
- Developing Distress Protocols for Research on Sensitive TopicsArchives of Psychiatric Nursing, 2009
- Learning of your parent's BRCA mutation during adolescence or early adulthood: a study of offspring experiencesPsycho‐Oncology, 2008
- A randomized trial of a breast/ovarian cancer genetic testing decision aid used as a communication aid during genetic counselingPsycho‐Oncology, 2008
- Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groupsInternational Journal for Quality in Health Care, 2007
- Family Communication about Genetic Risk: The Little That Is KnownPublic Health Genomics, 2004
- Development and evaluation of a breast cancer prevention decision aid for higher‐risk womenHealth Expectations, 2003
- Estimating the Efficacy and Efficiency of Cascade Genetic ScreeningAmerican Journal of Human Genetics, 2001