Getting on with genes

A complete genetic, genealogical and medical database of the Parsis in India is to be undertaken by Bangalore’s leading biotechnology company Avestha Gengraine Technologies Private Limited (Avesthagen). Termed The Avestagenome Project, it will help understand the linkages between genes, diseases and environmental factors, states Dr Villoo Morawala Patell, founder and managing director of Avesthagen. To be started in October 2007, the genetic study will create "awareness of the propensity for a particular disease” leading to "proactive early intervention programs,” states Patell.

Villoo Morawala Patell: catalytic research role

A prominent biotech entrepreneur who founded her firm in 1998, five years after obtaining her doctorate from the Louis Pasteur University in Stras­bourg, France, Patell says the Rs 125 crore "path-breaking Project… would help us predict diseases and play a catalytic role in development of new therapies and diagnostics.” The genome analysis plans to focus on genetic defects common in Parsis such as deficiency of G6PD (glucose-6-phosphate dehydrogenase), reduced fertility, ovarian disease, Parkinson’s, Alzheimer’s and breast cancer.

As per the plan Avesthagen and its partners will collect blood samples from the community members along with complete genealogical and medical information. The samples will later be processed and statistically analyzed at Avesthagen’s highly sophisticated facilities for creation of database.

As no specific guidelines on project structure, etc exist in India the standard Clinical Trial Guidelines are to be followed. These lay down the protocol for biomedical or health related research studies in human beings and make the researcher obligated to observe ethical and legal codes as in medical practice. Avestagenome has chosen to appoint a scientific and strategic advisory committee represented by people with international experience as also an ethics committee to ensure that the Indian Council of Medical Research Guidelines concerning informed consent and genetic counseling on the effects of the proposed study and the distribution of tangible benefits to the community are implemented, she assures. Already on the advisory committee is a distinguished team of scientists, investigators and specialists like Drs Farokh Udwadia, Ketayun Dinshaw, Narges Mahaluxmiwala, M. K. Bhan lending "credibility to the research methodology in spirit and in action.”

The Avestagenome Project is similar to the genetic study of the pure Icelanders that resulted in a national genetic database being set up in Iceland. Like Iceland, this Project "could also present a commercial opportunity,” reports a news item in Nature Publishing Group, adding, "In 1999 Iceland’s government licensed the genetic information from the national database to deCODE Genetics, a biomedical company that hopes to develop new cures and diagnostic kits.” Are the Parsis as pure as the Icelanders? question the skeptics pointing out that the Parsis have historically mingled with the local Indian population and would not contribute to an exclusive database. "Well, the idea is not to start this Project to prove that we are a pure race. We would start with the accepted base knowledge that the community has lived in India for 14 centuries and may have mingled with the local Indian population. However over the years the community has kept its identity through marriages within the community and also within families,” states Patell maintaining that the study of Icelanders has led to substantial "interesting data (that) has helped big pharma redefine their thoughts on drug discovery.” Would the Project compare the genetic properties of the Zoroastrians in India with those in Iran? "That would be ideal,” agrees Patell, "but please understand that this (genetic study of Indian Parsis) is an ambitious project in itself.”

Not everyone is convinced that the promised returns justify the investments involved. Would volunteers be available? Would the study be conducted after community consultation whereby researchers inform potential participants about the possible risks and benefits of participation in the study? Would informed consent be sought from the participants? Would confidentiality of data be maintained? Once it is established that the community is prone to certain genetic defects, would the publicization of this information serve any purpose? Critics fear that the findings of this study could serve as a deterrent: Insurance agencies may hike the premiums or deny coverage once a propensity for an illness is confirmed; employment may be denied if such information is known to an employer, subjects may be unable to deal with the stress of knowing that they are susceptible to a disease for which no cure is known. If these genetic tests are later patented and marketed, members of the community may be required to pay higher amounts to avail of the test facilities as happened in the case of the Ashkenazi Jews in Europe who were asked to pay for screening for a particular breast cancer gene after it was established that a specific mutation is found exclusively in this group.

To allay the misapprehensions Patell clarifies, "We have incorporated appropriate measures into our charter mandates that ensure that such information shall not be misused to generate any sort of discrimination in relation to insurance premiums…The technical data will be made available in a limited way with reference to statistics only and not specific subject propensity data for particular disease.”

The Avestagenome Project Private Limited will be floated as a private company with Avesthagen as the main promoter inviting members of the community and outside strategic partners to participate in funding through a shareholding process. While the structure, charter, business plan and committees are in the process of finalization, Patell declares, "As private equity is going to be used to fund a company established for this purpose and there shall be substantial investment in the further research and development for treatment of diseases like cancers and metabolic degenerative/ageing diseases, all rights would vest in the company…The fallout of revenue after a number of years will go towards its investors and to the trust established with five percent revenue that will go towards community support. It has been decided to dedicate five percent of its annual profits towards philanthropic activities including endowment programs for higher education for members of the comm­unity…All patents, publications and global usage and delivery of therapies of the Project will give due credit and respect to the role of our beloved community.”

Over the years Avesthagen has established four strategic business units: biopharmaceuticals, bio-nutritionals (food for medicine), agribiotech (seed for food) and science innovation, and grown into one of India’s leading healthcare technology groups in India. These four units will be formed into separate companies after its Initial Public Offering slated for the next financial year, notes a write-up in the Business Standard of April 6, 2007. Employing 250 people worldwide, at every stage Avesthagen collaborates with appropriate partners, both public and private, for access to and exchange of technology and overall commercial expertise. The US company Sequenom and the European drug giants AstraZeneca and Novartis are among their collaborators. Aves­thagen is currently valued at 115 million Euros (Rs 670 crores) on the strength of its patent portfolio and is expected to dilute around 10 percent. Presently holding stakes in the company are ICICI Ventures (18 percent), Adi Godrej group (six percent), Cipla (five percent), the French Bio-Meriuex group (five percent), Tata Industries (3.8 percent), Bennett, Coleman and Company (one percent).

The Avesthagenome Project, if successful, could present a commercial opportunity as also ensure that a community heading towards extinction is able to identify its genetic code. It takes a genie to know the worth of genes?