VP.08 Interests and experiences of young adults with muscular dystrophy in receiving genetic information

Abstract

Little is known about the informational needs of young adults with muscular dystrophy (MD). This study aims to elucidate their needs pertaining to genetic information and genetic testing, and to explore the role of genetic counsellors in helping to meet those needs. Young adults with MD (N=226) in Canada and the U.S. were surveyed about their interests and experiences in receiving genetic information. Participants were between the ages of 16-25, recruited through patient registries and social media channels. Of 226 respondents, 33% had Duchenne MD; 9 types of MD were represented overall. There was interest in receiving information about causes of MD, the chance of having a child with MD and genetic therapies. The preferred ages to receive information about the cause of MD, and about pregnancy-related genetic testing, were 12 and 17 years respectively. Only 26% of participants reported having received information about their chance of having a child with MD, while 41% indicated that it is important to receive this information. Participants described barriers to accessing genetic information, which included: cost, confusing terminology, and limited interaction with the outside world. Respondents also commented on advantages and disadvantages of genetic testing, and experiences meeting with genetic counsellors. Nineteen percent of participants were uncertain whether they had ever met with a genetic counsellor and 25% of those who had, could not recall the topics discussed. This research provides insight as to which genetic topics are of interest to young adults with MD, as well as the age they wish to receive this information. Analysis highlights gaps between interest in, and receipt of, genetic information. It delineates barriers that participants encounter in accessing this information. Results suggest the importance of genetic counselling to this population in meeting their informational needs, and that the timing of counselling delivery should be carefully planned.