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印度背景下遗传咨询师的角色、重要性以及对遗传咨询的认知

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

作者信息

Aman Nadir

机构信息

Department of Clinical Genomics, Utage Child Development Centre, Hyderabad, Telangana, India.

出版信息

J Hum Reprod Sci. 2025 Jan-Mar;18(1):45-47. doi: 10.4103/jhrs.jhrs_34_25. Epub 2025 Mar 29.

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.

摘要

遗传咨询是基因组医学的关键组成部分,为个人和家庭提供支持,帮助他们了解遗传风险、做出明智决策并适应潜在的遗传疾病。本评论强调了遗传咨询师在疾病预防、生殖医学和患者支持方面的关键作用。检测前咨询和知情同意可确保在基因检测前进行符合伦理道德且自主的决策。遗传咨询师和临床遗传学家虽角色不同但相辅相成,共同加强了对患者的全面护理。该病例报告展示了遗传咨询在一例小儿β地中海贫血病例中的实际应用。遗传咨询在生殖医学中起着至关重要的作用,尤其是在植入前基因诊断之前,能使夫妻做出明智的生育选择。此外,它通过向公众宣传近亲结婚风险、携带者筛查和早期基因干预,为预防遗传疾病做出贡献。遗传咨询的结构化流程确保了从初始风险评估到检测后支持的以患者为中心的护理。将遗传咨询视为一个独特的专业并将其纳入多学科医疗团队,对于改善患者治疗效果和推进基因组医学至关重要。

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本文引用的文献

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