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Author ORCID Identifier(s)

(https://orcid.org/0009-0007-3857-5204):

Abstract

The expansion of free genetic testing services in India, resulting from government policies like the Ayushman Bharat Digital Mission, corporate-sponsored initiatives, and international collaborations, makes it easier to access genomic services for early identification of inherited disorders such as thalassemia, sickle cell anemia, and certain genetic kidney diseases, particularly in tribal populations. However, this review reveals significant clinical and ethical challenges. Clinically, Western-based genotyping platforms, not tailored to India’s genetic diversity, risk inaccurate results, including false positives and negatives, complicating clinical decision-making. A shortage of genetic counsellors and inadequate post-test care leaves patients, especially in rural areas, struggling within fragmented healthcare systems, worsening inequities. Ethically, informed consent is often compromised in low-literacy settings due to cultural and linguistic barriers, raising concerns about autonomy. Data privacy is a critical issue, with India’s incomplete regulatory framework—marked by the stalled DNA Technology Regulation Bill and revisions to the Personal Data Protection Bill—leaving genomic data vulnerable to misuse. Hidden costs, such as follow-up diagnostics, burden low-income families, while societal risks include potential stigmatisation in marriage and family planning. Regulatory gaps allow inconsistent standards across providers, necessitating a unified policy framework.

Recommendations include integrating genetic testing into the National Health Policy with robust guidelines on validation, consent, and data governance, alongside training for physician associates to ensure ethical, patient-centred care. Addressing these challenges is crucial for the equitable and responsible implementation of free genetic testing in India’s diverse population.

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