Genetic counselling for inborn error of metabolism

Authors

  • Komal Uppal Department of Paediatrics, Genetic Division, Lok Nayak Hospital, New Delhi, India
  • Richa Nijhawan Department of Paediatrics, Genetic Division, Lok Nayak Hospital, New Delhi, India
  • Seema Thakur Genetic and Fetal Diagnosis Unit, Fortis Hospital, Delhi, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20233968

Keywords:

Inborn error of metabolic, Genetic counselling, Pretest, Post test

Abstract

Inborn error of metabolic (IEM) disorders being an important contributor for neonatal morbidity and mortality require unique and multidisciplinary health care including genetic counselling to reduce the burden of these disorders and to improve the quality of life of the patient. Genetic counselling, besides its basic elements, clinical genetic aspects and management of IEMs; also helps to understand family's knowledge and attitude towards the disorder, to motivate them to accept and adapt to the situation. Through this paper we are sharing our experience of providing genetic counselling to patients of metabolic disorders and emphasizing the role of counselling in imparting right directive care and to find possible ways to face the formidable challenges.

References

Veach PM, Leroy BS, Callanan N. Facilitating the Genetic Counseling Process. Res Gate. 2018.

Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Arch Dis Child. 2006 91(11):896-9.

Stein QP, Vockley CW, Edick MJ, Zhai S, Hiner SJ, Loman RS, Davis-Keppen L, Zuck TA, Cameron CA, et al. An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC). J Genet Couns. 2017;26(6):1238-43.

Hartley JN, Greenberg CR, Mhanni AA. Genetic counseling in a busy pediatric metabolic practice. J Genet Couns. 2011;20(1):20-2.

Salman DO, Mahfouz R, Bitar ER, Samaha J, Karam PE. Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon. Front Genet. 2022;13:1029947.

Moeschler JB, Shevell M, Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134(3):e903-18.

Schaefer GB, Mendelsohn NJ, Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013;15(5):399-407.

Natalie Beck, et al. Elements of genetic counseling for inborn errors of metabolism, Translational Science of Rare Diseases. 2019 ; 4: 197–208.

Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5(6):758-73.

Campbell H, Singh RH, Hall E, Ali N. Caregiver Quality of Life with Tyrosinemia Type 1. J Genet Couns. 2018;27(3):723-31.

Pelchat D, Levert MJ, Bourgeois-Guérin V. How do mothers and fathers who have a child with a disability describe their adaptation/ transformation process? J Child Health Care. 2009;13(3):239-59.

Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, et al. Living with phenylketonuria in adulthood: The PKU ATTITUDE study. Mol Genet Metab Rep. 2018;16:39-45.

Downloads

Published

2023-12-28

Issue

Section

Review Articles