Series
The 5th ELSI Congress - ELSIcon2022
ELSIcon2022 Paper: Genetic testing for hereditary cancer risk in India: A Case Study
Type
Conference

ELSIcon2022 • Paper • May 31, 2022

Pooja Chitre, Janis Geary, Robert Cook Deegan

India has a distinct history of dynamic migration, cultural and ethnic diversity, and widespread endogamy and consanguinity. This diversity is inadequately represented in the fragmented and publicly inaccessible Indian databases and global public databases. These factors complicate the detection and interpretation of inherited risk of cancer in India. Variants first detected in India are thus more likely to be classified as variants of unknown significance (VUS) than in European or North American populations, hindering accurate interpretation of hereditary cancer risk and effective clinical management.


This study explores genetic testing for inherited cancer risk in India, including perspectives of local practitioners, testing laboratories, and Indian representation in global databases. Our study uses mixed methods to describe the practices for genetic testing and interpretation for hereditary cancer risk in India. Based on a literature review and key informant interviews, we describe the various challenges to building a system that enables effective interpretation of hereditary cancer risk. We use descriptive statistics to describe Indian submissions to genetic databases including ClinVar and gnomAD.


Population prevalence surveys in India classify between 1% and 37.7% of the cancer risk gene variants detected as VUS, and 42% of the variants submitted to ClinVar from India are classified as VUS. By further exploring the practices of genetic testing and data processing, our findings can inform local efforts in India to support access to the variant data required for effective clinical interventions while contributing to the larger discussion about a global cancer genomic commons.

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Paper
Data and data stewardship
Genetic testing and screening

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