The Indian Practitioner

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Application of Genetics in Clinical Practice


Affiliations
1 Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India
     

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Since the completion of the human genome project our understanding of the genes, and their function in various pathophysiological conditions, has advanced and revolutionized the medical field. From a simple chromosome study to complex DNA sequencing, array CHG, and Next-Generation sequencing technology has made it possible to diagnose many rare diseases which were thought of as nonexistence or difficult to diagnose. And many of these disorders can be treated if diagnosed early. The burden of genetic disorders seems to be high in India likely to be due to consanguinity practiced in many communities. The present article is a basic understanding of the field of genetics and when to suspect and, how to diagnose and manage in day-to-day clinical practice.



Keywords

Genes, DNA, NGS, DNA sequencing, chromosome
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  • Gole LA, Bongso A. Fluorescent in-situ hybridization--some

  • of its applications in clinical cytogenetics. Singapore Med J.

  • Nov;38(11):497–503.

  • Kumar KR, Cowley MJ, Davis RL. Next-Generation

  • Sequencing and Emerging Technologies. Semin Thromb

  • Hemost. 2019 Oct;45(7):661–73.

  • Cheung SW, Bi W. Novel applications of array comparative

  • genomic hybridization in molecular diagnostics. Expert

  • Review of Molecular Diagnostics. 2018 Jun 3;18(6):531–42.

  • Sheth J, Shah S, Patel H, Bhavsar R, K B, Sheth F. A Study

  • on Triplet Repeat Expansion Disorders in Western Indian

  • Population. Hereditary Genetics: Current Research. 2015 Feb

  • ;4.

  • Sheth F, Rao S, Desai M, Vin J, Sheth J. Cytogenetic analysis of Down syndrome in Gujarat. Indian Pediatr. 2007

  • Oct;44(10):774–7.

  • Chong JX, Buckingham KJ, Jhangiani SN, Boehm C,

  • Sobreira N, Smith JD, et al. The Genetic Basis of Mendelian

  • Phenotypes: Discoveries, Challenges, and Opportunities.

  • Am J Hum Genet. 2015 Aug 6;97(2):199–215.

  • Verma IC. Burden of genetic disorders in India. Indian J

  • Pediatr. 2000 Dec;67(12):893–8.

  • Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K,

  • et al. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep. 2014; 12:51–63.

  • Mistri M, Tamhankar PM, Sheth F, Sanghavi D, Kondurkar

  • P, Patil S, et al. Identification of Novel Mutations in HEXA

  • Gene in Children Affected with Tay Sachs Disease from

  • India. PLoS One [Internet]. 2012 Jun 18 [cited 2021 Jun 5];7(6).

  • Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/

  • PMC3377590/

  • Venugopal A, Chandran M, Eruppakotte N, Kizhakkillach

  • S, Breezevilla SC, Vellingiri B. Monogenic diseases in India.

  • Mutat Res. 2018 Jun; 776:23–31.

  • Sheth JJ, Sheth FJ, Pandya P, Priya R, Davla S, Thakur C, et al. Beta-thalassemia mutations in western India. Indian J Pediatr. 2008 Jun;75(6):567–70.

  • Mickle JE, Cutting GR. Clinical implications of cystic fibrosis

  • transmembrane conductance regulator mutations. Clin Chest

  • Med. 1998 Sep;19(3):443–58, v.

  • Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PSN.

  • Characterisation of mutations and genotype-phenotype

  • correlation in cystic fibrosis: experience from India. J Cyst

  • Fibros. 2008 Mar;7(2):110–5.

  • Kohli S, Saxena R, Thomas E, Singh K, Bijarnia Mahay S,

  • Puri RD, et al. Mutation Spectrum of Dystrophinopathies

  • in India: Implications for Therapy. Indian J Pediatr. 2020

  • Jul;87(7):495–504.

  • Kole R, Krieg AM. Exon skipping therapy for Duchenne

  • muscular dystrophy. Adv Drug Deliv Rev. 2015 Jun 29;

  • :104–7.

  • Al-Zaidy SA, Mendell JR. From Clinical Trials to Clinical

  • Practice: Practical Considerations for Gene Replacement

  • Therapy in SMA Type 1. Pediatr Neurol. 2019 Nov; 100:3–11.

  • Carr DR, Bradshaw SE. Gene therapies: the challenge of super-high-cost treatments and how to pay for them. Regen

  • Med. 2016 Jun;11(4):381–93.

  • Platt FM, d’Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

  • Lysosomal storage diseases. Nat Rev Dis Primers. 2018 Oct

  • ;4(1):27.

  • Woolf LI, Adams J. The Early History of PKU. Int J

  • Neonatal Screen [Internet]. 2020 Jul 29 [cited 2021 Jun 4];6(3).

  • Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/

  • PMC7570064/

  • Sheth J, Nair A. Treatment for Lysosomal Storage Disorders. Curr Pharm Des. 2020;26(40):5110–8.

  • Sheth F, Rahman M, Liehr T, Desai M, Patel B, Modi C, et

  • al. Prenatal screening of cytogenetic anomalies - a Western

  • Indian experience. BMC Pregnancy Childbirth. 2015 Apr 12;

  • :90.

  • Sheth J, Mistri M, Sheth F, Datar C, Godbole K, Kamate M,

  • et al. Prenatal Diagnosis of Lysosomal Storage Disorders by

  • Enzymes Study Using Chorionic Villus and Amniotic Fluid.

  • J Fetal Med. 2014 Mar 1;1(1):17–24.


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  • Application of Genetics in Clinical Practice

Abstract Views: 96  |  PDF Views: 0

Authors

Jayesh Sheth
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India
Aadhira Nair
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India
Frenny Sheth
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India
Harsh Sheth
Foundation for Research in Genetics and Endocrinology (FRIGE) Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, Gujarat, India

Abstract


Since the completion of the human genome project our understanding of the genes, and their function in various pathophysiological conditions, has advanced and revolutionized the medical field. From a simple chromosome study to complex DNA sequencing, array CHG, and Next-Generation sequencing technology has made it possible to diagnose many rare diseases which were thought of as nonexistence or difficult to diagnose. And many of these disorders can be treated if diagnosed early. The burden of genetic disorders seems to be high in India likely to be due to consanguinity practiced in many communities. The present article is a basic understanding of the field of genetics and when to suspect and, how to diagnose and manage in day-to-day clinical practice.



Keywords


Genes, DNA, NGS, DNA sequencing, chromosome

References