Genetic counseling in sickle cell disease: Insights from the Indian tribal population.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-08-01 Epub Date: 2023-08-04 DOI:10.1007/s12687-023-00661-z

Pooja Aggarwal, Deepa Bhat

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Abstract

Sickle cell disease (SCD) is an inherited disorder of hemoglobin. With an overall prevalence of 4.3%, India is the second-largest hub of SCD after Africa. Genetic counseling (GC) is the most cost-effective intervention to reduce the burden of a genetic disease including SCD. Even though GC's role in reducing SCD birth prevalence is well established, it is still not incorporated into Indian national policy and is unavailable to most Indians approaching their marriageable age and childbirth. GC perception and efficacy have also not been explored yet among young adults, especially in Indian tribal communities. Counseling in these communities requires careful consideration of their socioeconomic, cultural, and ethical values. Community engagement with local tribes and healthcare infrastructure in a multitier approach is essential for an effective GC. This review aims to provide healthcare providers and genetic counselors with the essentials of GC in the prevention and management of SCD among tribal communities based on the author's counseling experience in South India.

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镰状细胞病遗传咨询：来自印度部落人口的启示。

镰状细胞病（SCD）是一种遗传性血红蛋白疾病。印度的总发病率为 4.3%，是仅次于非洲的第二大 SCD 中心。遗传咨询（GC）是减少包括 SCD 在内的遗传病负担的最具成本效益的干预措施。尽管遗传咨询在降低 SCD 出生率方面的作用已得到充分证实，但它仍未被纳入印度的国家政策，大多数即将步入适婚年龄和生育期的印度人都无法获得遗传咨询。在年轻成年人中，尤其是在印度部落社区中，对 GC 的认知和功效也尚未进行探讨。在这些社区进行咨询需要仔细考虑他们的社会经济、文化和伦理价值观。社区与当地部落和医疗保健基础设施的多层次合作对于有效的 GC 至关重要。本综述旨在根据作者在南印度的咨询经验，向医疗服务提供者和遗传咨询师介绍在部落社区预防和管理 SCD 的遗传咨询要点。

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 Community Genetics GENETICS & HEREDITY-

CiteScore

3.30

自引率

5.30%

发文量

期刊介绍： The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.