Finding utility for genetic diagnostics in the developing world

Abstract

Genetic testing companies have come under fire lately for an array of reasons. Many direct-to-consumer outfits are being challenged by the federal regulatory authorities, by the physicians' community and by the public itself. The desire to derive utility from the existing mass of genetic research is only outpaced by the sheer amount of new information being added to our understanding daily. These genetic testing companies are simultaneously trying to apply the existing knowledge, build a base for further study and be credible, going concerns from a business perspective. It is a worthy but difficult objective. The direct-to-consumer genetic initiatives face resistance from physicians who are the traditional intermediaries between medical insight and application of this insight. The companies also face a strong adversary in a government that wants to protect its constituents from fraudulent marketing claims and misinformation. Recent, informal studies have also exposed flaws in the product offerings and delivery of information by these companies. Finally, these are all for-profit entities which are struggling to become profitable. The objective of this thesis is to identify an attractive consumer base and opportunity that would allow for successful deployment of genetic diagnostic capability. I postulate that the success of a direct-to-consumer company would depend on finding a customer that values the genetic insight deeply and is able to take action from such insight. Based on those two fundamental criteria-perceived value and actionable utility-I build a profile of place, person and disease to test my hypothesis. Driven by the findings of my research, I anchored my hypothesis around an Indian consumer who pays for health care out-of-pocket, is vulnerable to certain genetic diseases due to narrow, endogamous customs and has grown up in a culture of arranged marriages. If this individual's religious and moral code forbids early termination of pregnancy or if financial and logistical circumstances make abortion impossible, I posit the desire for this cohort to use pre-marital genetic testing will increase. My research showed that people born in India and people who had considered arranged marriage as a viable option (the two groups overlapped but not completely) did display a greater likelihood of using genetic tests at the pre-marital and pre-natal stage to make informed decisions about family planning. These groups also showed a greater inclination towards early termination of pregnancy as well as reconsidering partner choice based on the outcome of genetic testing. However, the data also showed that those groups that did not believe in abortion still did not preferentially want a pre-marital genetic test.