Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia

Background: The genetics domain is witnessing great advances in diagnosing and predicting genetic diseases. In a clinical setting, autosomal recessive genetic disorders are frequently observed as a result of the high rate of consanguinity. The advances in genomic technologies and methods in recent years have facilitated new tools for gene discovery in humans. There is a debate over the ethical dilemmas and challenges behind providing families with the genetic test results and incidental findings. Thus, this vast source of information can have a multitude of ethical, social, legal, and political implications. Objectives: In this study, we aimed to study how families of affected children respond when they receive incidental findings. Also, we aimed to identify how healthcare professionals descriptively abide by their role and the information-sharing procedures. Methods: This study was a qualitative study conducted at King Faisal Specialist Hospital and Research Centre in Riyadh. It included a total of 14 participants and a total of 14 healthcare providers. Results and conclusion: Six strong themes emerged in this study. This study explored the experiences of parents of children affected with genetic diseases and the experiences of healthcare providers attending these families; their observations and the ethical challenges they faced during their practice. [JBCGenetics 2021; 4(2.000): 100-111

Agreement within couples on choosing preimplantation genetic diagnosis versus pre-natal diagnosis: perspective from Saudi population.

Background: Couples who are at risk for having an infant with a serious genetic disorder can benefit from pre-implantation genetic diagnosis (PGD), but many couples still opt for the riskier pre-natal diagnosis (PND). Although couples make this decision together, the male and the female in the couple may have different attitudes toward choosing PGD vs. PND. The objective of this study was to determine if men and women in the same couple with at least one child with a genetic disorder will have significantly different attitudes toward choosing PGD vs. PND. Methodology: In this cross-sectional clinical study, couples with at least one child with a genetic disease attending the King Faisal Specialist Hospital Research Center, Genetic Counseling Clinic (KFSH-RC, GCC), Riyadh, Saudi Arabia were asked to complete an anonymous survey about their attitudes towards PGD vs. PND. The responses were compared between men and women in couples. The study was conducted during May 2017. Results: A total of 38 couples provided complete surveys. In terms of preference for PGD vs. PND, there were no significant differences in aggregate between men and women (p > 0.05). Over half the couples agreed (were concordant) on all statements about PGD vs. PND. An almost equal number of couples with members who disagreed (were discordant) had women preferring PND vs. men preferring PND compared to PGD. Conclusion: This study showed that members of couples sampled were generally in agreement about their preference for PGD vs. PND. Among discordant couples, there was no preference among women for PGD vs. PND. Studies like this are important to help clinicians understand intra-couple dynamics in genetic counseling. [JBCGenetics 2019; 2(1.000): 18-27

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients

Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid α-glucosidase encoded by GAA gene. Affected infants present before the age of 12 months with hypotonia, muscle weakness, and hypertrophic cardiomyopathy. Enzyme replacement therapy (ERT) has been shown to improve survival, cardiac mass, and motor skills. In this work, we aim to illustrate the genotypes of IOPD and the outcome of ERT in our population. The medical records of infants with confirmed diagnosis of IOPD who received ERT were reviewed. Eighteen infants (7 males, 11 females) were included in the study. The median age at presentation was 2 months and the median age at the start of ERT was 4.5 months. Fifteen (83.3%) infants died with a median age at death of 12 months. The 3 alive infants (whose current ages are 6½ years, 6 years, and 10 years), who were initiated on ERT at the age of 3 weeks, 5 months, and 8 months respectively, has had variable response with requirement of assisted ventilation in one child and tracheostomy in another child. All infants were homozygous for GAA mutations except one infant who was compound heterozygous. All infants (n = 8) with truncating mutations died. Our work provides insight into the correlation of genotypes and outcome of ERT in IOPD in Saudi Arabia. Our data suggest that early detection of cases, through newborn screening, and immunomodulation before the initiation of ERT may improve the outcome of ERT in Saudi infants with IOPD. Keywords: Pompe disease, Glycogen storage disease type II, Enzyme replacement therapy, GA

Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases

Artículo de publicación ISISin acceso a texto complet