Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family.
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.
Division of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, 1200 Children's Ave., Ste 12100, Oklahoma City, OK, 73104, USA.
Brenna
B
Hayes
Division of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, 1200 Children's Ave., Ste 12100, Oklahoma City, OK, 73104, USA.
Susan
S
Hassed
Perinatal Center of Oklahoma, Oklahoma City, OK, USA.
Jae Lindsay
JL
Chaloner
Division of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, 1200 Children's Ave., Ste 12100, Oklahoma City, OK, 73104, USA.
Christopher E
CE
Aston
Division of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, 1200 Children's Ave., Ste 12100, Oklahoma City, OK, 73104, USA. carrie-guy@ouhsc.edu.
Carrie
C
Guy
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003142:Communication; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling / Q000523:psychology; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009034:Mother-Child Relations; D009035:Mothers; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000523:psychology*; D011795:Surveys and Questionnaires; D055815:Young Adult
Carrier testing; Communication; Duchenne muscular dystrophy; Family perspectives; Genetic counseling; Minors; Qualitative; Thematic analysis