The Views of Pakistani Doctors Regarding Genetic Counseling Services - Is there a Future?
Department of Pediatrics Division of Medical Genetics, The University of Texas Health Science Center at Houston, 6431 Fannin Street MSB 3.146B, Houston, TX, 77030, USA. Journal of Genetic Counseling
(Impact Factor: 2.24).
03/2013; 22(6). DOI: 10.1007/s10897-013-9578-2
Pakistan is a densely populated country in South Asia with a high burden of genetic disease. A dearth of medical genetic services exists and master's level trained genetic counselors (GCs) are currently not a part of the healthcare system. This study is the first to determine the views of Pakistani medical doctors (MDs) towards genetic counseling services in Pakistan, including what manner a master's level genetic counselor might be incorporated into the healthcare system. Fifty-one MDs practicing in the city of Karachi completed a self-administered survey of twenty questions. Of the 49 respondents who answered a specific question, 100 % (49/49) felt that they would refer at least some, if not all, of their relevant patients to a genetic's clinic if one existed in Karachi. Overall, the respondents showed a positive attitude towards the provision of genetic counseling services as a part of the healthcare system of Pakistan. Some of the proposed roles identified specifically for GCs included: explaining how Down syndrome occurs (66.1 %), discussing genes associated with breast cancer (77.4 %), and explaining the inheritance pattern of β-thalassemia (65.5 %). In contrast, the review of medical and family history and discussion of medical procedures such as ultrasound and amniocentesis were typically seen as the role of a physician. A majority of the respondents (98 %) were in favor of premarital carrier screening for thalassemia and would refer patients to a GC to describe the importance of carrier screening (84.3 %) and to help explain carrier screening results (94.1 %). Many respondents selected GCs as the ideal provider of education and support for people with inherited conditions (43.8 %), followed by specialist MDs (26 %) and general physicians (22.9 %). Considering the high burden of genetic disease in the country, we encourage the development of genetic counseling services in Pakistan.
Available from: Mohammed Elasrag
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ABSTRACT: Purpose: To investigate the molecular basis of retinitis pigmentosa in two consanguineous families of Pakistani origin with multiple affected members.
Methods: Homozygosity mapping and Sanger sequencing of candidate genes were performed in one family while the other was analyzed with whole exome next-generation sequencing. A minigene splicing assay was used to confirm the splicing defects.
Results: In family MA48, a novel homozygous nucleotide substitution in C8orf37, c.244–2A>C, that disrupted the consensus splice acceptor site of exon 3 was found. The minigene splicing assay revealed that this mutation activated a cryptic splice site within exon 3, causing a 22 bp deletion in the transcript that is predicted to lead to a frameshift followed by premature protein truncation. In family MA13, a novel homozygous null mutation in C8orf37, c.555G>A, p.W185*, was identified. Both mutations segregated with the disease phenotype as expected in a recessive manner and were absent in 8,244 unrelated individuals of South Asian origin.
Conclusions: In this report, we describe C8orf37 mutations that cause retinal dystrophy in two families of Pakistani origin, contributing further data on the phenotype and the spectrum of mutations in this form of retinitis pigmentosa.
Molecular vision 03/2015; 21:236-243. · 1.99 Impact Factor
Available from: Muhammad Aslamkhan
04/2015; 1(2):31. DOI:10.15562/gnc.17
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ABSTRACT: Objective(s): To determine level of knowledge and attitudes of health care providers (HCP) regarding premarital screening and genetic counseling (PMSGC), to identify the predictors of high knowledge score and to verify their satisfaction with and recommendations for improving the program Design: Cross-sectional study conducted during the January 2010 - January 2011 period Setting: Outpatient clinics of three governmental hospitals in Jeddah Subjects: Three hundred and forty-five HCP Intervention(s): A self-administered questionnaire containing personal and socio-demographic data, 30 PMSGC knowledge items, and 14 attitude statements were used. HCP working in the program were asked about their satisfaction and recommendations for improvement. Main Outcome Measure(s): Knowledge, attitudes and satisfaction of the HCP Results: About one-half (51.6%) of the health care providers had satisfactory knowledge about PMSGC. After controlling for the confounding factors, the only predictor of satisfactory knowledge score was being a specialized provider (aOR = 2.86; 95% CI: 1.63 - 5.02). Regarding attitudes, almost all participants (99%) strongly agreed and agreed on the importance of the PMSGC program. Concerning satisfaction, half of HCP working in the program had excellent or very good scores for program confidentiality and higher percentages for counseling about discovered diseases. Conclusions: HCP had good attitudes towards PMSGC program. However, there is some lack of knowledge. They recommended adding vaccinations, new screening and counseling to the current program. Formal training course(s) for HCP about the program were recommended.
The Kuwait medical journal: KMJ: the official journal of the Kuwait Medical Association 06/2015; 4(2):122-127.
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