Bengaluru: In late December, scientist Vinod Scaria chanced upon information on genetic analyses on human samples from India that were presented at a talk in October at the American Society of Human Genetics (ASHG). He immediately realised it was the largest set of human genomes to have been exported outside the country so far for research.
He was intrigued. As a genomics researcher at CSIR-Institute of Genomics & Integrative Biology (CSIR-IGIB) in Delhi, Scaria knew that performing research on Indian health data required prior approvals and clearances from the Department of Health Research (DHR) and Indian Council of Medical Research (ICMR).
Scaria filed a petition under the Right to Information (RTI) Act and discovered that neither the DHR nor the Health Ministry Screening Committee (HMSC), which need to provide clearances for biomedical research data exports, were aware of the export of the samples. ICMR too had no record of such a study.
The project had been announced by Global Gene Corp (GGC) in 2018 as the largest genomics program to sequence the Indian population, and was supported by Invest India, the national investment promotion agency.
The research itself was conducted as a part of a commercial project by GGC and pharma company Regeneron, and they claim to have followed the due process for it.
The findings of the project were only presented and discussed at the talk and not published as a research paper. It included identification of genetic variants associated with cardiovascular disease, vertigo and patterns in genetic data flow based on socio-cultural practices in marriage.
But should the companies have followed a different process to export biological samples, the process that academic researchers are expected to follow for research? It seems this is not clear.
Also Read: ‘Is it a bird? Is it a dinosaur? It’s both. 120 mn-yr-old fossil sheds light on how birds evolved’
What are the rules?
The DHR and ICMR provide clearance to biomedical research projects involving samples from India through the HMSC, which is mandatory before undertaking an internationally-funded or technically-coordinated research project in health.
The HMSC has been issuing clearances for biomedical research since the 1980s since it was constituted by the Ministry of Health and Family Welfare.
Conversely, commercial projects need to require clearance from the Ministry of Commerce and Industry for exporting or importing biological samples.
In 2016, there was an amendment added to the policy of importing and exporting human biological samples for commercial purposes by the Ministry of Commerce and Industry. Under the guidelines of this notification, issued by the Directorate General of Foreign Trade (DGFT), customs authorities were permitted to allow export and import of samples when due process is followed.
According to the notification, “the import and export of human biological samples should be permitted by customs authorities at entry/exit ports without prior approval from any government agency, provided the Indian company/agency concerned submits an undertaking that they are following and will follow all the applicable rules”.
This is the grey area that seems fuzzy to scientists.
Global Gene Corp, operating in India under the name Anuva, said that HMSC’s clearance was not required for commercial projects, and that it had complied with the DGFT requirements to export the samples.
“This is a commercial project,” said Kushagra Sharma, president of GGC/Anuva to ThePrint. “A research can be an output of a commercial project and you use it commercially… The rules, regulations, and the law around this is actually pretty clear on what we have to follow, and we have followed it.”
But Scaria and other scientists argue that even if the findings are not published as an academic paper, they are research findings nonetheless and require approvals from DHR as well as HMSC.
Scientists raise concerns
Under DGFT guidelines, there are protocols for transferring, importing and exporting human material with “potential for use in biomedical research”.
They state that if the material is used for collaborative research projects, the proposal for the projects must go through appropriate authorities for clearance and should have been approved by institutional ethics committees. However, for commercial import/export, it states that customs agencies should permit samples to pass through as long as they comply with “all the applicable” rules, safety regulations and procedures.
“We have taken ICMR approvals via the ethics committees to conduct such research. In the consent forms as well as research protocols, we highlight that we work with our partners who analyse and use the data for commercial applications,” said Sharma.
Sharma added that the work was approved by an independent, Maharashtra-based medical institute’s ethical committee, among others. Additionally, all the samples were collected through informed consent, a copy of which was reviewed by ThePrint. The consent forms state that data was being collected for a research study, which Sharma clarified is commercial research.
But scientists worry that exporting genomic data of Indian citizens is a matter of national security as genomic data from foreign entities are unregulated in the country. Additionally, any commercially viable technology derived out of such research could be sold back to Indians at higher profit margins preventing local knowledge generation.
“If the DGFT notification overrules HMSC, there is no point in HMSC altogether,” Scaria told ThePrint. “Anyone, including labs, could export samples claiming they’re for commercial testing and would just require collaborators to issue an invoice.”
His concerns were echoed by Shambhavi Naik, head of research and chair of advanced biology at Takshashila Institution, a not-for-profit think tank and public policy school.
“Any access to human data from India — be it for academic or commercial purposes — should require HSMC clearance. This is particularly true for whole sample collection, which can provide the recipient a whole host of information,” said Naik.
She added: “The reasons for an HMSC clearance and approval are beyond scientific integrity and business. Given the powerful information that DNA can provide, there are national security concerns that need to be addressed. The HSMC regulations need to be clarified if unclear language is leading companies to conveniently interpret the policy for their purposes.”
The member secretary of the ethics committee that approved the GGC project redirected ThePrint’s questions about government clearance to the DGFT.
ThePrint has sought clarifications from DHR, ICMR, and HSMC over phone and email. The agencies have acknowledged the communication, but are yet to respond. The DGFT is also yet to respond to ThePrint’s email. This report will be updated if and when responses are received.
About the research
Global Gene Corp collected the samples from Karnataka, Uttar Pradesh, Gujarat, Rajasthan and Maharashtra hospitals last year and then conducted the analysis in collaboration with Regeneron, the American pharma giant that developed the first Covid monoclonal antibody cocktail. Regeneron was not involved in data collection.
GGC did not share details about the number of samples collected from India, the amount of data shared with Regeneron, and the research findings due to proprietary reasons.
According to information posted about the talk on Twitter by a scientist from Regeneron, the study of 15,000 genomes from the five states showed how individuals cluster by genetic data based on languages they speak, as a result of strong endogamy (marrying within caste) practices. The data also showed that isolated genetic populations of outliers of sociocultural norms were present in the thousands.
The abstract also talked about a gene, OTOP1, which encodes a zinc-sensitive channel protein. This protein is involved in inner ear balance, and variations in these genetic regions showed associations with vertigo.
Additionally, the data showed that communities with consanguineous marriages (within blood relations) result in loss-of-function mutations. A variant in PLA2G7 gene, which encodes a protein that degrades platelet activation and increases the risk for cardiovascular disease, was found in 0.5 to 1 per cent of Indians, but not much elsewhere.
(Edited by Geethalakshmi Ramanathan)
Also Read: Old-fashioned BP cuffs as effective as Bluetooth devices to monitor hypertension, shows US trial