The Hindu belief is that we are born with an opening balance sheet of good and bad deeds, karma. We don’t know the balance sheet, so we get on with our lives. Through life’s actions, further good and bad deeds occur along with their consequences. Astrologers claim to cast our janam patri, based on the date and time of our birth and forecast our future; we are cautiously suspicious, but often succumb to astrologers as the travails of life play out!
When it comes to genetics, Nature endows us with starting genes from both our parents. As a result of environment and lifestyle, by producing proteins, our genes influence our health, which is the Nurture aspect. In technical jargon, this interplay between Nature (inherited genes) and Nurture (lifestyle) is included in the subject of epigenetics. Is there any value of knowing about our inherited genes? Will such knowledge make us slaves to genome-wallahs instead of horoscope-wallahs? Should we at all be interested?
Let me extend the metaphor of balance sheets. A financial analyst is interested in an opening balance sheet with a clear view of the subsequent cash flows. Why should health analysts not be similarly interested? In this era of technology and entrepreneurship, it turns out that our genome balance sheet can be cast! My ears pricked up when I met Anu Acharya, a Hyderabad-based entrepreneur, who has a start-up called MapMyGenome. This start-up is different from most start-ups, which are based on connecting users and vendors, for example, of cab drivers with cab seekers, food seekers with food suppliers and so on.
To try the offering, their kit, which resembled a toothbrush with a cotton swab at the end, had to be used. All I had to do was to rub the swab around by upper teeth and gums under my cheek area for the company representative to collect. Three weeks later, a copy of my “genome patri” arrived by email. I read the 70 page report but with little enlightenment. A genomic counsellor arrived and explained how to interpret the document. Bingo, I am now aware of my DNA inheritance.
Genomics is emerging and, as of now, not much understood. Of the many human genomes known to exist, apparently only one percent are thought to influence our inherited traits. The genome patri studies only the simplest of those (for the technically orientated, called SNP for single nucleotide polymorphism). Our health bears some influence of inheritance (Nature) and lots of influence of lifestyle (Nurture). Physicians and annual medical tests offer guidance on the latter. The genome patri offers clues about the former. Read together our physician could get better clues about our individual health risks and how to manage them.
Diseases arise from single genes or multiple genes. DNA reports are greatly helpful in simple gene cases like cystic fibrosis and sickle cell disease. But diseases like hypertension and cancer are related to multiple genes. Science still does not know enough to make a clear DNA report when it comes to multiple gene diseases, which are the majority of disease cases.
Soon after my genomic counsellor departed, I described my experience to a friend. Her forty year old husband had died of an unexpected heart attack although he was fit as a fiddle and very athletic. “If only his genome patri was available and we were guided to think about his inherited risk. This stuff sure can be useful,” she sighed. Maybe it was wishful thinking on her part, but if an annual medical check-up is useful, I wondered why a genome-patri should not be useful. It is obviously not a panacea for all health issues, but may offer directional hints and probabilities of disease and advise appropriate care.
Inherited risks to unborn foetus and early childhood could also be valuable to young parents. Some diseases are more inherited than others. Inherited DNA, as separate from lifestyle, accounts for maybe half of the causes of diabetes and heart ailments, but could be much higher for diseases like sickle cell.
The data so collected could also be useful to pharmaceutical companies to devise research solutions for broader national and community characteristics. For example, Indians are increasingly prone to hypertension, and India is the diabetes capital of the world. Could the data be analysed to devise lifestyle changes or specific medical treatments? Wow, this looks real smart, but for sure, it will bring along detractors and objectors!
Has anybody else done this around the world? Yes, there is a start-up called 23AndMe in Silicon Valley. The company has reached a valuation of over a billion dollars in about ten years after some jolts and surprises. However it took a long time to recruit a million customers, who bought into the idea after considering its value and cost.
A once-off ‘Genome Patri Lite’ can be purchased for Rs 15,000 as against the annual standard medical check-up fee of Rs 10,000—one cannot substitute the other. Since the annual medical check-up does not create paranoia among those tested, awareness of individual genetics also should not. Nor should DNA testing be used to type-cast or categorize people.
It may well be that Anu Acharya’s company is ahead of the curve in this technology ecosystem, but, for sure, India and Indians need this science in an applied form.