Medical genetics and genomic medicine in India: current status and opportunities ahead

Aggarwal, Shagun; Phadke, Shubha R.

doi:10.1002/mgg3.150

Cited by 26 publications

(25 citation statements)

References 81 publications

(132 reference statements)

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“…There are more than 4,500 anthropologically defined groups (Majumdar, 2010; Narang, Roy, Chaurasia, Mukhopadhyay, & Mukerji, 2010). Consanguinity as well as endogamous marriages are prevalent in certain communities (Aggarwal & Phadke, 2015; Bittles, 2002). Although almost all known genetic conditions have been reported in India (Aggarwal & Phadke, 2015), the genetic admixture compounds the challenges in assessing the burden of genetic diseases.…”

Section: Introductionmentioning

confidence: 99%

“…Consanguinity as well as endogamous marriages are prevalent in certain communities (Aggarwal & Phadke, 2015; Bittles, 2002). Although almost all known genetic conditions have been reported in India (Aggarwal & Phadke, 2015), the genetic admixture compounds the challenges in assessing the burden of genetic diseases. In India, there has been enormous progress eradicating many communicable diseases, increasing life expectancy and reducing infant mortality rates.…”

Section: Introductionmentioning

confidence: 99%

“…However, they are not specialist physicians and need a post‐graduation degree such as a Doctor of Medicine (MD) degree to practice in a specialty setting. Across the country, there are four medical genetics training programs (Aggarwal & Phadke, 2015) and approximately 40 trained medical geneticists. Organizationally, the Society for Indian Academy of Medical Genetics, which is an organization meant to unite practitioners and advance the medical genetics field in India, was established in 2012.…”

Section: Introductionmentioning

confidence: 99%

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Genetic counseling education at the undergraduate level: An outreach initiative to promote professional recruitment and support workforce development

Neogi

Kumar

Guan

et al. 2020

Journal of Genetic Counseling

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As in many other countries, the field of genetic counseling is in its initial stages of development in India, where there are efforts to streamline the profession and to implement graduate‐level training programs. We implemented an elective course on genetic counseling at the undergraduate level in a private university in India to assess students’ interest, to provide early exposure for students interested in pursuing the career, and to aid recruitment. To assess satisfaction with the course and recruitment outcomes, we sent a course evaluation survey to 332 students and received 134 responses. Familiarity with genetic counseling topics increased significantly after completing the course. Of the 42 respondents who reported they were planning to pursue formal genetic counseling training, 21% (n = 9/42) became interested in the profession as a result of taking this course. Survey respondents who were prospective applicants to genetic counseling training programs referred mostly to the websites of the National Society of Genetic Counselors and the American Board of Genetic Counseling for information on genetic counseling and training. Barriers to entry into the field included lack of shadowing opportunities, inadequate coursework, and limited opportunities to interact with practicing genetic counselors. Respondents stated that additional case studies as well as observation of patient interactions would elucidate the role of a genetic counselor and help define the scope of the practice in India and other countries. Overall, genetic counseling education at the undergraduate level is a scalable way to improve understanding of genetic counseling topics, increase professional interest in the field, and support workforce development.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genetic counseling education at the undergraduate level: An outreach initiative to promote professional recruitment and support workforce development

Neogi

Kumar

Guan

et al. 2020

Journal of Genetic Counseling

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“…The admixture of various ethnic groups in India resulted in the heterogeneous population [25,26]. As the difference in the distribution of alleles could confound genotype-phenotype association studies and are the primary reasons for the conflicting results, it is important to explore the influence of DHFR variants in each population.…”

Section: Introductionmentioning

confidence: 99%

Genotype Distribution of Dihydrofolatereductase Variants and their Role in Disease Susceptibility to Acute Lymphoblastic Leukemia in Indian Population: An Experimental and Computational Analysis

Kodidela¹,

Pradhan²

2016

J Leuk

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Objectives: To establish the allele and genotype frequencies of dihydrofolate reductase (DHFR) -317A>G and -680C>A variants in Indian population, to find the association of these variants with the risk of acute lymphoblastic leukemia (ALL) and to analyze the effects of non-synonymous SNPs (nsSNPs) and 3'untranslated region (3'UTR) variants of DHFR gene on its structure and function using in-silico tools.Methods: A total of 235 unrelated healthy volunteers (controls) and 127 ALL patients (cases) were recruited for the study. DNA was extracted from peripheral leucocytes. Genotyping of DHFR polymorphisms was done by realtime PCR. We investigated the deleterious effect of nsSNPs and variants in 3'UTR of DHFR gene through computational platforms. Results:In the present study, the frequency of DHFR -317G and -680 A alleles was found to be 33.3% and 59.8% respectively. The studied DHFR variants (rs408626 and rs442767) did not confer a significant risk for ALL. Insilico analysis revealed that three nsSNPs potentially affect the structure, function and activity of the DHFR protein.Four microRNA binding sites were found to be highly affected due to 3'UTR SNPs. Further, docking simulation suggested that the order of binding affinity of methotrexate towards native and all three mutant forms of DHFR is D153V (rs121913223)>native>G18R (rs61736208)>D187Y (rs200904105). Conclusion:This is the first study to report the normative genotype distribution of DHFR variants in Indian population and also to report that DHFR (-317A>G and -680C>A) variants do not confer a potential risk for development of ALL. Inter-ethnic differences exist in the distribution of DHFR variant genotypes, and this can lead to variability in therapeutic response to DHFR substrates. Protein sequence analysis revealed rs200904105 influences the phosphorylation process (post-translational modification) of DHFR and docking simulation suggested methotrexate to have a higher affinity towards rs121913223 mutant form. Therefore, studies are warranted to explore the clinical impact of these variants in the Indian population.

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“…More recently, several laboratories have undertaken an evaluation of clinically relevant variations in genes of drug-metabolizing enzymes and their relevance to drug effects in clinical practice. The outcomes of such studies have not only reinforced the need to discover and practice pharmacogenomics in the clinics but also to add more data of clinical relevance [15]. However, much needs to be done to evaluate strategies for a better management of genetic disease and public health in India.…”

Section: Introductionmentioning

confidence: 99%

Perspectives on Translational Genomics and Public Health in India

Chakrabarty

Kabekkodu

Brand

et al. 2015

Public Health Genomics

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It is now recognized worldwide that anticipation and prevention of diseases have significant advantages for the health and healthy ageing of the population. Early recognition of the disease in a vulnerable population such as in children aged <5 years and adults aged >60 years enhances our preparedness for any eventualities and future burden of the diseases to society. It is also recognized that current public health practices alone cannot bring about the desired outcome. When tackling public health-related issues, such problems must be recognized and state-of-the-art principles and innovations from genomic sciences, information technologies, and medical specialties must be encompassed and embraced. These will enhance strategies for preparedness and provide us with a better understanding of how to identify, manage, and control disease burdens. The ever expanding landscape of genomics research also includes experimental and computational approaches for effectively utilizing DNA sequence information. From these perspectives, the intricacies of Mendelian single gene disorders are the least challenging compared to intricacies of multi-dimensional host factors for infectious diseases or complex disorders such as cancer. The concepts of public health in India are on firm footing; however, integration of contemporary advances to implement public health principles into practice has neither been attempted nor impacted on disease burden or our preparedness to prevent eventualities. At the same time, translational genomics is gradually paving the way for personalized medicine. Principles of personalized medicine remain to be fully understood and practiced despite the pharmacogenomics-based future of drug development, and treatment has not been as exciting as the advances in genomics we are witnessing today. The relevance, importance, and translational impediments of these advances will be discussed.

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Medical genetics and genomic medicine in India: current status and opportunities ahead

Cited by 26 publications

References 81 publications

Genetic counseling education at the undergraduate level: An outreach initiative to promote professional recruitment and support workforce development

Genetic counseling education at the undergraduate level: An outreach initiative to promote professional recruitment and support workforce development

Genotype Distribution of Dihydrofolatereductase Variants and their Role in Disease Susceptibility to Acute Lymphoblastic Leukemia in Indian Population: An Experimental and Computational Analysis

Perspectives on Translational Genomics and Public Health in India

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