Affiliations: [a] Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA
| [b] Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Correspondence:
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Correspondence to: Dr. Debra Mathews, Johns Hopkins University, Deering Hall 211, 1809 Ashland Ave, Baltimore, MD 21205, USA. Tel.: +1 410 614 5581; E-mail: dmathews@jhu.edu.
Abstract: Background:Communicating genetic information within families can provide individuals with the emotional support, alert family members to their own potential risk, and strengthen relationships. However, these communications have the potential to cause emotional distress to individuals and family members if family members are informed of a risk they do not wish to know or discuss. Communication about the decision to pursue testing and test results are especially sensitive in Huntington’s disease (HD), where individuals often feel strongly about either knowing or not knowing their genetic status. Objective:To examine family communication patterns of genetic risk, the decision to pursue testing, and test results not just years, but decades after testing for HD, and examine how family communication of genetic risk information affects family relationships over the long-term. Methods:In this qualitative study, 39 semi-structured interviews were conducted with probands who went through genetic testing for HD. Clinic notes from these individuals were also analyzed. Results:Family communication patterns varied based on relation (e.g., significant others, child, extended family) and were influenced by a variety of factors. Sharing with spouses and children had a positive influence on the relationship in most cases. Sharing with extended family members had varying effects on relationships. Negative effects were more likely when family members were in denial, had not pursued testing for themselves, or did not support testing. Conclusion:Communication to significant others and children, should be discussed with and supported in individuals seeking testing for HD, but for extended family members, potential effects on the relationship, emotional distress, and benefits should be discussed and weighed.
Keywords: Communication, genetic testing, family relations, Huntington’s disease
