“Science is the most powerful force in the world for improving human health and well-being. It consistently pays enormous returns on society’s investment, transforming the way we live and work,” wrote Eric Lander, president and founding director of the Broad Institute of MIT and Harvard.

He was also one of the principal leaders of the international Human Genome Project (HGP).

Genomics and revolution in medicine

In 1953, James Watson and Francis Crick revolutionised the world of medicine by describing the double helix structure of DNA – a ground-breaking finding that would help scientists around the world to better understand genetics.

The HGP was dubbed one of the greatest accomplishments of scientific voyage in history, with international researchers collaborating and combining efforts to map and sequence the genome of the human species – the Homo sapiens. The project’s aim was to provide scientists with tools to understand genetic factors in human diseases as a baseline to develop better strategies for diagnostics, treatment and prevention.

Completed in year 2003, the HGP has already successfully aided in the discovery of over 1,800 genes that cause inherited diseases. According to the National Institutes of Health (NIH), there are already 2,000 genetic tests made available that enable health professionals to understand genetic risks for diseases in their patients.

Quoting the NIH, “Having the complete sequence of the human genome is similar to having all the pages of a manual needed to make the human body.... 

“…The challenge now is to determine how to read the contents of these pages and understand how all of these many, complex parts work together in human health and disease,” it also said.

Lander: Is the promise of genomic medicine overhyped?

“It’s only natural that expectations run high,” said Lander, as he recounted a time when he expressed hopes for scientists to turn cancer into a treatable disease within the next 30 to 40 years, to which a reporter later queried him on his pessimism – on why he thought curing cancer would take so long.

“The time frame for the big therapeutic payoffs is often misunderstood,” he said.

Take for example when the headlines “Genetic Code of Human Life is Cracked by Scientists” emerged in 2000 following scientists’ announcement of a rough draft of human DNA sequence. Though it was a major milestone worth celebration, some scientists slipped from reasonable enthusiasm into overpromising about the timing of the potential outcomes and results.

No doubt, the works by researchers have evolved the world of medicine, with genomics beginning to shed light on various diseases – and in a remarkably short period of time. We now understand the causes of 4,000 single-gene disorders, and genetic analysis of tumours is slowly but surely becoming routine as a guide to cancer treatment approaches.

However, “we all need to get better at making the case for realistic optimism,” stressed Lander.

Amara’s law is key to keeping gene research in context

According to Amara’s law, “We tend to overestimate the effect of a technology in the long run and underestimate the effect in the long run.”

Thus, there is still much to learn and understand, and that the real payoff will be for the future generations, but many still have high expectations that treatment for many diseases are near– which is not quite the truth.

The challenge, said Lander, is to celebrate and share progress in research and treatment, while also emphasising the long-term horizon for transformative impact.

The advent of precision medicine which is founded on human genetics, for example, has reshaped research approaches in cancer prevention, diagnosis and treatment that will potentially save the lives of those with the disease.

“But the scientific path from biological insight to medical impact is often long and winding,” Lander explained, as he meticulously described the process, starting from the elementary discoveries from basic research, to deciphering physiological process of a disease, subsequently adopting a “therapeutic hypothesis”, developing and testing a drug’s efficacy and safety for use in humans, to finally securing approval by authorities – for each single drug or treatment option.

For more complex diseases like HIV and cancer, combinations of treatment are usually required.

Even so, scientific successes in laboratories may not adequately represent complex human diseases, and clinical trials can sometimes fail to prove efficacies. There is also a need for better understanding of the complex range of social, ethical and technical factors that can shape the motivations or act as barriers, holding scientists back in their genomic endeavours.

“On occasion, we’re lucky, and the work can be telescoped to less than a decade,” he said. “But luck is not a plan. More often, the pace is frustratingly slow.” MIMS

Read more:
Personalised medicine: Tailored to fit each person’s genes
3 reasons why translational research has seen little success
The ’Angelina Jolie effect’ and the downside of mammography