Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens

Farheen Hakim Zada; Ahmad Hazim Syakir Ahmad Azahari; Sau Wei Wong; Adli Ali; Noor Akmal Shareela Ismail

doi:10.3390/jpm13121652

Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens

J Pers Med. 2023 Nov 27;13(12):1652. doi: 10.3390/jpm13121652.

Authors

Farheen Hakim Zada¹, Ahmad Hazim Syakir Ahmad Azahari¹, Sau Wei Wong¹, Adli Ali^{1

2}, Noor Akmal Shareela Ismail^{2

3}

Affiliations

¹ Department of Pediatric, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
² Research Centre, Hospital Tunku Ampuan Besar Tuanku Aishah Rohani, UKM Specialist Children's Hospital, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.
³ Department of Biochemistry, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Cheras, Kuala Lumpur 56000, Malaysia.

Abstract

Neuromuscular disorders, characterized by progressive muscle degeneration and weakness, present substantial challenges to both affected individuals and their families. Genetic testing assumes a pivotal role in facilitating early diagnosis, intervention, treatment, and informed family planning for these conditions. The objective of this qualitative study is to delve into the knowledge, awareness, and perceptions surrounding genetic testing within the cohort of parents caring for individuals with neuromuscular disorders in Malaysia. A semi-structured interview approach was employed to elicit data from parents of individuals diagnosed with neuromuscular disorders, encompassing those with clinical diagnoses and those diagnosed through genetic testing. Examination of the interview responses yielded nine overarching themes, which furnish invaluable insights into the perspectives of Malaysian parents concerning genetic testing. The study discerned several challenges associated with genetic testing, notably encompassing the limited awareness among parents, the financial constraints associated with genetic testing, and the perceived significance of genetic testing in the context of neuromuscular disorders. The findings suggest that the level of knowledge and awareness pertaining to genetic testing for neuromuscular disorders among parents in Malaysia varies, with initial levels of awareness ranging from relatively low to reasonably sufficient prior to and following the birth of an affected child. However, the investigation revealed that parents tended to cultivate more favorable perceptions regarding genetic testing subsequent to their experience with genetic counseling. This underscores the potential for heightened awareness and comprehension as a consequence of the personal experience of parenting an affected child confirmed through genetic testing and genetic counseling, ultimately influencing parental awareness.

Keywords: awareness; genetic counseling; genetic testing; knowledge; neuromuscular disorder; parents; perception.

Grants and funding

The APC was funded by the Faculty of Medicine, Universiti Kebangsaan Malaysia and Geran Ganjaran Penerbitan Universiti Kebangsaan Malaysia (GP-K015635).