PARENTAL KNOWLEDGE AND ATTITUDES TOWARDS GENETIC COUNSELING AND CHILDHOOD GENETIC TESTING FOR CONGENITAL ANOMALIES IN QATAR

Abstract

Background: Understanding parental baseline knowledge of the implications of genetic counseling and genetic testing may unveil educational gaps or circumstantial fear and reluctance towards this important component in the management of children with congenital anomalies. This study was designed to investigate parental knowledge of and attitudes towards genetic counseling and genetic testing as it pertains specifically to pediatric plastic surgery practice in Qatar. Methods: The study employed a prospective face-to-face questionnaire that was administered online to parents who met inclusion criteria and attended the pediatric plastic surgery clinic at Sidra Medicine between October 2022 and February 2023. The questionnaire consisted of 38 questions, the questionnaire considered (i) demographics, (ii) knowledge, and (iii) attitudes (perceived benefits vs. perceived barriers) towards genetic counseling and genetic testing. Statistical analyses were performed using SPSS software v28.0. Results: A total of 160 participants filled out the questionnaire. Parents were from Asia 27%, North Africa 25%, Middle East 22%, and America/Europe 6%; only 22% were Qatari nationals. Consanguinity account for 22.9%. About 6% of children were presented with minor anomalies, 73% with major isolated anomalies, and 21% with major syndromic anomalies. 37% of children had undergone genetic testing in the past. American/European parents and all parents holding undergraduate and graduate degrees P=0.003; P=0.001 respectively) scored higher on genetic knowledge than did the rest of the cohort. Moreover, American/European parents (P=0.028) and all parents with a higher knowledge score (P=0.048) had a higher positive attitude score towards genetic counseling and genetic testing. Qataris (46%) n=35 demonstrated strong knowledge but lower positive attitudes score towards perceived benefits and higher perceived barriers score than other ethnicities. Parents who were consanguineous (P=0.003) or whose child had already been referred for counselling and genetic testing by a medical provider (P<0.001) had a higher positive attitude score regarding possible benefits of genetic counseling and genetic testing. In turn, parents whose child had not been previously underwent genetic testing tested (P<0.001) and parents who did not have another child with a genetic disorder (P=0.002) had a higher negative attitude score towards genetic counselling and genetic testing Conclusion: This study highlights the need for cultural sensitivity and tailored education about genetic counseling and genetic testing for parents of children with congenital anomalies. Healthcare providers should consider parental education levels and consanguinity when providing information about the benefits of and the barriers to genetic testing. By addressing barriers and providing accurate information, healthcare providers can help parents make informed decisions about genetic testing and counseling. Plastic surgery physicians play a crucial role in advocating for genetic testing for their patients. By recognizing the benefits of genetic testing and referring their patients to genetics professionals, plastic surgery physicians can help identify patients who may be at an increased risk for genetic conditions and provide them with personalized care. Through proactive screening and early intervention, plastic surgery physicians can improve patient outcomes and help reduce the burden of genetic conditions on individuals, families, and society as a whole. It is essential for plastic surgery physicians to stay informed about advances in genetics and genomics and to collaborate with genetics professionals to provide the best possible care for their patients, as genetic testing becomes more accessible and affordable.