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Community health workers in India should be trained to offer genetic counselling for rare diseases

Nature Medicine volume 30, page 319 (2024)Cite this article

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Sickle cell disease (SCD) is a common monogenic disorder affecting many people across the world and is highly prevalent in countries of sub-Saharan Africa, Central America and Southeast Asia. It is estimated that 300,000 babies are born each year with SCD worldwide; in low-income countries, half of these children die before the age of five years1. As a monogenic disorder, SCD can be prevented in offspring through premarital screening and counselling to avoid marriages between carriers; and prenatal diagnosis of carrier couples followed by the offer of a medical termination of affected pregnancies2. The government of India has launched a mission to screen members of tribal communities for SCD, but screening will only be successful if accompanied by genetic counselling. Genetic counselling has an important role in raising awareness of the disorder, understanding the role of heredity in the disorder and its risk of recurrence, treatment options, and to assist families with making the best decisions possible3.

Genetic counsellors are a crucial role within medical care systems; we estimate that approximately 400,000 genetic counsellors are needed to manage rare diseases worldwide (to provide 1 counsellor per 1,000 affected people). Countries with the highest prevalence of SCD have among the lowest number of genetic counsellors. In 2018, there were nearly 7,000 genetic counsellors across 28 countries. However, only 350 genetic counsellors were in Asian countries including India and 25 were in Africa, regions where SCD is highly prevalent4. Owing to the scarcity of genetic counsellors in affected countries, prevention programs for SCD will be hampered. Indeed, few countries have properly trained genetic counsellors; those that are trained often provide directive genetic counselling, rather than shared decision making, owing to a lack of knowledge about communication strategies when working with vulnerable populations5.

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Acknowledgements

The authors thank the director of ICMR-NIRTH, Jabalpur, for constant support and encouragement.

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  1. ICMR-National Institute of Research in Tribal Health, Jabalpur, India

    Deepika Patel & Ravindra Kumar

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  1. Deepika Patel
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  2. Ravindra Kumar
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Correspondence to Ravindra Kumar.

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Patel, D., Kumar, R. Community health workers in India should be trained to offer genetic counselling for rare diseases. Nat Med 30, 319 (2024). https://doi.org/10.1038/s41591-023-02748-z

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