The Role, Importance of Genetic Counsellors and the Awareness of Genetic Counselling in Indian Scenario.

IF 1.1 Q2 Medicine
Journal of Human Reproductive Sciences Pub Date : 2025-01-01 Epub Date: 2025-03-29 DOI:10.4103/jhrs.jhrs_34_25
Nadir Aman
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引用次数: 0

Abstract

Genetic counselling is a critical component of genomic medicine, offering individuals and families support in understanding genetic risks, making informed decisions and adapting to potential genetic conditions. This commentary highlights the key roles of genetic counsellors in disease prevention, reproductive medicine and patient support. Pre-test counselling and informed consent ensure ethical and autonomous decision-making before genetic testing. The distinct yet complementary roles of genetic counsellors and clinical geneticists enhance comprehensive patient care. The case report illustrates the practical applications of genetic counselling involving a paediatric case of beta-thalassaemia. Genetic counselling plays a crucial role in reproductive medicine, particularly before pre-implantation genetic diagnosis, enabling couples to make informed reproductive choices. Additionally, it contributes to the prevention of genetic disorders by educating populations about consanguinity risks, carrier screening and early genetic interventions. The structured process of genetic counselling ensures patient-centred care from initial risk assessment to post-test support. Recognising genetic counselling as a distinct profession and integrating it into multidisciplinary healthcare teams will be essential in improving patient outcomes and advancing genomic medicine.

角色,遗传咨询师的重要性和意识的遗传咨询在印度的情况。
遗传咨询是基因组医学的一个重要组成部分,在了解遗传风险、做出知情决定和适应潜在遗传条件方面为个人和家庭提供支持。这篇评论强调了遗传咨询师在疾病预防、生殖医学和病人支助方面的关键作用。检测前咨询和知情同意确保基因检测前的道德和自主决策。遗传咨询师和临床遗传学家的独特但互补的作用,加强全面的病人护理。该病例报告说明了遗传咨询的实际应用,涉及一个儿科-地中海贫血病例。遗传咨询在生殖医学中起着至关重要的作用,特别是在植入前遗传学诊断之前,使夫妇能够做出知情的生殖选择。此外,它还通过对人群进行有关血缘风险、携带者筛查和早期遗传干预的教育,有助于预防遗传疾病。遗传咨询的结构化过程确保从最初的风险评估到测试后支持以患者为中心的护理。认识到遗传咨询是一种独特的职业,并将其整合到多学科医疗团队中,对于改善患者的治疗效果和推进基因组医学至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Human Reproductive Sciences
Journal of Human Reproductive Sciences Medicine-Reproductive Medicine
CiteScore
2.60
自引率
0.00%
发文量
50
审稿时长
23 weeks
期刊介绍: The Journal of Human Reproductive Sciences (JHRS) (ISSN:0974-1208) a Quarterly peer-reviewed international journal is being launched in January 2008 under the auspices of Indian Society of Assisted Reproduction. The journal will cover all aspects human reproduction including Andrology, Assisted conception, Endocrinology, Physiology and Pathology, Implantation, Preimplantation Diagnosis, Preimplantation Genetic Diagnosis, Embryology as well as Ethical, Legal and Social issues. The journal will publish peer-reviewed original research papers, case reports, systematic reviews, meta-analysis, and debates.
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