Nine years ago, at the annual conference of the American Association for Advancement of Science, Francis Collins and Craig Venter, leaders, respectively, of the public and private races for the first draft of the human genome, spoke about the promises of their findings.
Clutching copies of Nature and Science, journals which published that week the first drafts from the public and private projects, respectively, Collins and Venter narrated how the human genome sequence would lead to predictive genetic tests and interventions to reduce risks—in other words, how healthcare would become personalized. In Thursday’s issue of Nature, they revisit their 2001 predictions, admit that the sequencing data hasn’t translated into mass health benefits, offer some course correction, but reaffirm their belief that genomics holds the key to more effective medicine.
In the biomedical world, the past decade will be remembered for the saltatory pace at which DNA sequencing technology progressed, forcing the cost to drop 14,000-fold between 1999 and 2009. It is estimated that in three to five years, a human genome can be sequenced in a day for less than $1,000. Venter predicts that in 10 years, we will move beyond one genome to multiple genomes per person from sources as diverse as stem cells, sperm and egg cells, and pre-tumor and cancer cells.
By that time, hopefully, there will be richer repositories of data to dip into. Today, a number of DNA variations that play a part in a variety of common diseases have been identified, but science only has a tenuous grasp of the heritability of common diseases—“the dark matter of the genome”, as it were. That means the data quality isn’t good enough for diagnosis; and making meaningful predictions is still quite limited.
Though this will improve over time, it might turn out to be a slippery slope for India which, besides being the hottest seat of genetic diversity globally, has been a late starter in human genome sequencing. It has limited data on genetic mutations that cause diseases in specific population groups, though recent studies have thrown up interesting findings.
For instance, we know that due to deletion in a gene, around 45 million Indians are at a greater risk of cardiomyopathy (or heart muscle disease). We also know that a mutation that provides protection against HIV infection is either missing or present in low frequency in most Indians. Indian scientists have begun to study how genes influence risk of diseases such as diabetes, malaria or brain disorders.
But technology sometimes moves ahead of science. Genomics is a good example. Direct-to-consumer marketing of genetic risk prediction is reaching consumers, despite its clinical validity or utility being limited. A private lab in India has said it will soon launch a sports gene test that would tell parents if their child is suitable for sprinting or distance running or no such sport at all.
Predictive genetic tests such as these will abound and coexist with life-saving tests that tell if breast cancer patients need chemotherapy or not. To channelize the genetic data deluge and unbridled therapeutic opportunities new mechanisms of public-private partnerships are needed. Collins suggests that academic investigators play a more important role in the early stages, “effectively ‘de-risking’ projects for downstream commercial investment”, a welcome proposition in India, where the domestic life sciences industry so far has been risk-averse, preferring reverse engineering to innovation.
With the Indian Genome Variation Consortium data already showing communities as disease carriers, the task of policymakers is cut out: to ensure there are appropriate privacy protections in people’s medical records, and healthcare providers and the public are adequately educated. After all, who will decide when and how to communicate the results of the genetic tests so that it ameliorates health and not trigger neuroses? At what stage in a person’s life should genome be sequenced?
It’s a future for which India needs to prepare.
Seema Singh is a deputy chief of bureau at Mint. Comment at email@example.com