Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family

• Published in: Journal of genetic counseling 2016-06, Vol.25 (3), p.443-453
• Main Authors: Hayes, Brenna, Hassed, Susan, Chaloner, Jae Lindsay, Aston, Christopher E., Guy, Carrie
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Autonomy; Biomedical and Life Sciences; Biomedicine; Carrier testing; Carriers; Child; Child, Preschool; Clinical assessment; Clinical practice guidelines; Clinical Psychology; Communication; Duchenne muscular dystrophy; Duchenne's muscular dystrophy; Dystrophy; Ethics; Families & family life; Family perspectives; Female; Genetic Carrier Screening; Genetic counseling; Genetic Counseling - psychology; Genetic screening; Genetic Testing; Gynecology; Human Genetics; Humans; Infant; Male; Middle Aged; Minors; Mother-Child Relations; Mothers; Muscular dystrophy; Muscular Dystrophy, Duchenne - genetics; Muscular Dystrophy, Duchenne - psychology; Open ended questions; Original Research; Public Health; Qualitative; Surveys and Questionnaires; Thematic analysis; Young Adult
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1007/s10897-015-9898-5

Carrier testing is widely available for multiple genetic conditions, and several professional organizations have created practice guidelines regarding appropriate clinical application and the testing of minors. Previous research has focused on carrier screening, predictive testing, and testing for X-linked conditions. However, family perspectives on carrier testing for X-linked lethal diseases have yet to be described. In this study, we explored communication within the family about carrier testing and the perspectives of mothers of sons with an X-linked lethal disease, Duchenne muscular dystrophy (DMD). Twenty-five mothers of sons with DMD participated in an anonymous online survey. Survey questions included multiple choice, Likert scale, and open ended, short answer questions. Analysis of the multiple choice and Likert scale questions revealed that most mothers preferred a gradual style of communication with their daughters regarding risk status. In addition, most participants reported having consulted with a genetic counselor and found it helpful. Comparisons between groups, analyzed using Fisher’s exact tests, found no differences in preferred style due to mother’s carrier status or having a daughter. Thematic analysis was conducted on responses to open ended questions. Themes identified included the impact of family implications, age and maturity, and a desire for autonomy regarding the decision to discuss and undergo carrier testing with at-risk daughters, particularly timing of these discussions. Implications for genetic counseling practice are discussed.