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The Human Genome Project: Two Decades On

Over thirty years ago, a group of international researchers set a bold goal: to create a map of the DNA code that makes up the human genome.

Photo: Shutterstock
Photo: Shutterstock

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Medicine has seen rapid advances in the years since the Human Genome Project reached completion, with preventative and personalised medicine now on the cards. Yet this rate of change would not have been possible without developments in computational techniques, with the likes of BGI Group able to sequence human genomes in a matter of hours. 

Over thirty years ago, a group of international researchers set a bold goal: to create a map of the DNA code that makes up the human genome. Ten years later, at a total cost of $2.2 billion, it was finally achieved.  

‘We are standing at an extraordinary moment in scientific history,’ said Eric Lander, the director of the Whitehead Institute Centre for Research, when the Human Genome Project was completed. ‘It’s as though we have climbed to the top of the Himalayas.’ 

Mapping the genetic blueprint for human beings, the completed Human Genome Project unleashed a scientific revolution by providing a base map for all future genetic research. It was described, at the time, as biology’s answer to the Apollo space programme. 

Two decades on and medicine has seen dramatic advances, with developments in genomics enabling scientists to address critical challenges for humanity. From tackling infectious disease, to providing personalised and preventative medicine, the possibilities that stem from the Human Genome Project are truly ground-breaking. 

These developments would not have been possible without vast improvements in computational techniques in the years since, which enable us to sequence genomes in just a matter of hours. Indeed, BGI Group, one of a small number of companies offering whole genome sequencing, can sequence human genomes at record speed for less than $100, using the next generation DNBSEQ™ NGS technology platform. 

The consequences of this are momentous. 

With the aid of rapid and inexpensive genetic sequencing, scientists can track biology and disease at a molecular level, which opens new avenues for developing targeted therapies and understanding patient response to treatment. 

For instance, studies in the wake of the Human Genome Project have led to breakthroughs in how we understand and treat Crohn’s disease.  In the past two years, genome-wide studies have identified around 30 genes that have variants involved in Crohn’s disease. This information reveals the pathways that lead to Crohn’s, which enables pharmaceutical companies to test their different drugs in an attempt to find one that could block that pathway. 

Meanwhile, BGI Group uses its next-generation sequencing assays to offer targeted panels that can analyse genes directly linked to specific cancers. BGI Group’s Cancer+ Discovery Panel is designed to identify all classes of actionable genomic alterations, including SNP, CNV, InDels, and Fusions, across a total of 688 cancer-related genes. Results are supported by in-depth mutation analysis to inform which pharmaceutical drugs will be most effective for the patient. 

A deeper understanding of human DNA has also led to other breakthroughs in cancer care, namely in treatment of chronic myeloid leukaemia. By examining a key section of the human genome, scientific researchers identified that a mutation there produces a specific protein (called ‘bcr-abl’) that triggers a series of chemical reactions in a patient that causes chronic myeloid leukaemia.  

Understanding the protein’s role was pivotal to developing a drug that could block its activity and stop the proliferation of white blood cells. As David Adams, a Sanger Institute geneticist explains, ‘The drug that has changed everything is called Gleevec, and it was derived from our new, computer-driven understanding of the genome.’ 

Our ability to sequence DNA has also proved critical to tackling the Covid-19 pandemic, with rapid and affordable genetic sequencing providing near real-time data on viral evolution, transmission dynamics, and vaccine efficacy. At the forefront of this work was BGI Group, which offered RT-PCR and sequencing-based detection packages from the beginning of the outbreak. 

Developments in the wake of the Human Genome Project have not only led to medical breakthroughs but have also deepened our understanding of the natural world. Indeed, the Earth BioGenome Project (EBP), an international effort to catalogue all eukaryotic life on the planet, has enabled us to better understand the biological diversity of the planet, which in turn helps us to preserve and protect the earth’s natural riches. 

It is clear the Human Genome Project has opened a new world of possibilities. But the rate of change will not stop here. 

Some scientists believe that in future, we will be able to sequence bacteria from an infection in portable sequencers, map it against a library of genomes, and prescribe highly precise, targeted antibiotics. This will avoid patients being exposed to a broad antibiotic that kills everything, including beneficial bacteria, and will likely mean a course of antibiotics will be shorter, with a decreased chance of producing resistant organisms. 

Others predict that soon, genomic sequencing could unlock the causes of arthritis, type 2 diabetes, atherosclerosis and Alzheimer’s, or be used to instantly assess babies born with genetic problems so they could receive vital therapy straight away. 

It is clear we have already made huge progress since we first mapped the human genome two decades ago, with genetic sequencing opening the doors for preventative and personalised treatments. However, the pace of change will not stop there. As Professor Serena Nik-Zainal, an advanced clinician scientist for Cancer Research UK, predicts, ‘In the next 12 months we are going to see a lot more studies being published. I think we’re going to see a lot more good news.’

Saqib Malik
Written By

Saqib Malik is Director & Head Of Business Development of Prestige Perfections, a world-class service provider in the fields of well-known artist management and music production.

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