Genetic Disorders and Medical Genetics in India

2004 ◽  
pp. 501-518 ◽  
Author(s):  
Ishwar C. Verma
Keyword(s):  
Genetic Disorders ◽  
Medical Genetics

scholarly journals The Need for Development of Medical Genetics and Genomics Curriculum for Medical Schools in Saudi Arabia

2019 ◽  
Vol 4 (03) ◽  
Author(s):  
Khalid M. Al-Harbi
Keyword(s):  
Saudi Arabia ◽  
Medical Students ◽  
High Throughput Sequencing ◽  
Academic Staff ◽  
Genetic Disorders ◽  
Treatment Options ◽  
Undergraduate Curriculum ◽  
Medical Schools ◽  
Medical Genetics ◽  
Genetics And Genomics

Next generation genomic tools including dense SNP arrays and high throughput sequencing technology have led to the exponential increase in delineating genetic defects in rare as well as common genetic disorders. Advanced genetic tools have found clinical applications in almost all areas of medicine specifically in clinical diagnostic setting. Genomic testing has entered clinical practice and physicians are using genomic information to guide treatment options. Medical schools throughout the world have integrated medical genetics and genomics courses in the curriculum to prepare medical students and future physicians to understand the role of genetic factors in human health and disease. However, in Saudi Arabia, the existing undergraduate curriculum in most of the medical schools is insufficient to prepare medical students to cope with rapidly advancing genomic science. Moreover, the majority of medical schools in Saudi Arabia have no geneticist as an academic staff, and where there are such academician available relatively less teaching time is allocated for them and negligible use is made of their specialized knowledge. Overall in Saudi Arabian medical schools, little genetics teaching is given to medical students. An objective oriented genetic and genomic course need to be integrated in medical school curricula which would subsequently prepare generation of the student who can develop a critical understanding and knowledge of core concepts in medical genetics and genomics.

scholarly journals Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

2021 ◽  
Author(s):  
Mayher J Patel ◽  
Marina T DiStefano ◽  
Andrea M Oza ◽  
Madeline Y Hughes ◽  
Emma H Wilcox ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Molecular Pathology ◽  
Genetic Disorders ◽  
Medical Genetics ◽  
Sequence Variant ◽  
Variant Interpretation ◽  
Disease Specific

AbstractPurposeThe ClinGen Variant Curation Expert Panels (VCEPS) provide disease-specific rules for accurate variant interpretation. Using hearing loss-specific American College of Medical Genetics/Association for Molecular Pathology (HL-specific ACMG/AMP) guidelines, the ClinGen Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in resolving conflicting variant interpretations.MethodsA total of 157 variants across nine hearing loss genes were curated and submitted to ClinVar by the HL VCEP. The curation process consisted of collecting published and unpublished data for each variant by biocurators, followed by bi-monthly meetings of an expert curation subgroup that reviewed all evidence and applied the HL-specific ACMG/AMP guidelines to reach a final classification.ResultsBefore expert curation, 75% (117/157) of variants had single or multiple VUS submissions (17/157) or had conflicting interpretations in ClinVar (100/157). After applying the HL-specific ACMG/AMP guidelines, 24% (4/17) of VUS variants and 69% (69/100) of discordant variants were resolved into Benign (B), Likely Benign (LB), Likely Pathogenic (LP), or Pathogenic (P). Overall, 70% (109/157) variants had unambiguous classifications (B, LB, LP, P). We quantify the contribution of the HL-specified ACMG/AMP codes to variant interpretation.ConclusionExpert specification and application of the HL-specific ACMG/AMP guidelines effectively resolved discordant interpretations in ClinVar. This study supports the utility of ClinGen VCEPs in helping the community move towards more consistent variant interpretations, which will improve the care of patients with genetic disorders.

scholarly journals Perfil de Competência em Genética para Médicos do Brasil: uma Proposta da Sociedade Brasileira de Genética Médica e Genômica

2019 ◽  
Vol 43 (1 suppl 1) ◽  
pp. 440-450
Author(s):  
Débora Gusmão Melo ◽  
André Anjos da Silva ◽  
Antonette Souto El Husny ◽  
Victor Evangelista de Faria Ferraz
Keyword(s):  
Birth Defects ◽  
Professional Education ◽  
Medical Training ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Medical Genetics ◽  
Health Concern ◽  
Unified Health System ◽  
Competency Based ◽  
Epidemiological Profile

ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

scholarly journals Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics

2019 ◽  
Vol 43 (1 suppl 1) ◽  
pp. 440-450
Author(s):  
Débora Gusmão Melo ◽  
André Anjos da Silva ◽  
Antonette Souto El Husny ◽  
Victor Evangelista de Faria Ferraz
Keyword(s):  
Birth Defects ◽  
Professional Education ◽  
Medical Training ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Medical Genetics ◽  
Health Concern ◽  
Brazilian Society ◽  
Unified Health System ◽  
Genetics And Genomics

ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

scholarly journals The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

2013 ◽  
Vol 16 (2) ◽  
pp. 176-182 ◽  
Author(s):  
Vandana Shashi ◽  
Allyn McConkie-Rosell ◽  
Bruce Rosell ◽  
Kelly Schoch ◽  
Kasturi Vellore ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Disorders ◽  
Medical Genetics ◽  
Diagnostic Evaluation ◽  
Next Generation ◽  
Generation Sequencing
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