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TSS Exclusive: 100,000 Genome Project and the Future of Medicine

by Laurenzo Overee

Bespoke Medical Treatment

The burgeoning state-of-the-art advances in genetic studies has led to a plethora of scientific breakthroughs in recent years, such as the controversial birth of a pair of genetically modified HIV-immune twins and selective tomato breeding, the latter of which yield greater concentrations of lycopene (antioxidants responsible for heart and blood health, etc.) and aroma than naturally occurring variants. Thanks to genetic modifications, the world has seen bioluminescent fishmuscle-bound pigs and featherless chickens. And why stop there? Consider the viabilities of treating life-threatening diseases by targeting the responsible genes, which might hold promise for the treatment and prevention of more complex diseases.

At the heart of ongoing genetical research has been the 100,000 Genomes Project, a United Kingdom project sequencing whole genomes of National Health Service patients that may be used to customize effective healthcare treatments.  

100,000 Genomes Project and Benefits

Genomics is the study of genes in its relevance toward treating abnormal genetic disorders and rare diseases that are impossible to cure due to their varying pathogenic pathways. Through genomic medicine, scientists hope to reduce the chances of a misdiagnosis while expediting accurate medical treatment and procedures that complement the identified and stored genetical sequences of patients.

Since the time of Watson and Crick, two Cambridge University scientists who discovered DNA’s double-helix structure, the UK has remained a leading force in genomic research. In 2012, the milestone 100,000 Genomes Project – named after the number of whole genes that have been successfully sequenced to date – was launched by then-British Prime Minister, David Cameron, who dedicated the campaign to his son, Ivan. Ivan suffered from a rare neurological disorder known as Ohtahara syndrome (or Early Infantile Epileptic Encephalopathy), which causes serious muscle seizures and cerebral palsy, leading to his death at just six years old.

The project was a collaboration between Genomics England and NHS England, establishing 13 genomic centers that facilitated the collection of whole genetic sequences through an automated analytics platform. British Health Secretary Matt Hancock stated, ‘“understanding the human code on such a scale is part of the mission to provide truly personalised care to help patients live longer, healthier and happier lives.’’

Bone marrow recipients make up just one of the many groups that will receive life-changing options since they depend on the compatibility of donors during transplant. Instead of depending on the suitability of organs, CRISPR may offer an alternative for gene editing from the DNA substrate of the sufferer themselves, reducing avoidable risks.

85,000 patients with rare diseases and cancers were part of the study, compounding information pliable for the formation of new diagnoses methods and medical measures. The information acquired from the successful genomic campaign is being interpreted for the improvement of healthcare, analytics, and ethics among other facets of healthcare.

Issues and Concerns

Using the CRISPR system derived from natural bacteria immunity, genes may be edited through slicing and splicing methods. This portends a world where inherited diseases may be stamped out through medical intervention, which may also render some chronic diseases obsolete. 

However, there are some complications that arise in current genomic medicine, involving scientific, ethical, and social issues which should be addressed. Due to the innate complexities of genes, as evinced through the works of scientific experts Frederick Sanger and Walter Gilbert, most physical traits and diseases manifest as a result of DNA between strands rather than from individual codes. For example, in the controversial case of the HIV-immune twins born in China last year, it is difficult to clearly predict the possible side effects they may face during their adolescence or adult years. 

It is not as simple as destroying, removing or adding a single sequence. To complicate matters, the detection of a targeted sequence by CRISPR is not entirely safe or accurate. Large sections of DNA may be inadvertently removed, causing irreparable damage within the functionalities of organisms.

From a social perspective, based on a study published by the journal Cell, ongoing research on genetic markers that target diseases are tailored towards white European populations, with reports stating that 78% of the total participants belong to this demographic.  This carries concerns as ignoring genomic diversity could cause a shortage of information that benefits the larger population.

Evolutionary geneticist, Sarah Tishkoff, an author of the analysis, voices her concerns, “That is just unbelievable, it really limits our understanding.’’

Genomic expert from Stanford, Carlos Bustamanteconcurs. “Genomics is the new oil, it’s being used for everything from studying rare diseases to developing more effective drugs. Before its potential can be fully realized, however, genomics will have to address its diversity problem.’’

Then, there are the dangers of ethical and safety issues, which were brought up for discussion at the Second Initial Summit on Human Genome Editing in Hong Kong, where scientist He Jian Kui faced heavy scrutiny from scientific peers for allegedly using CRISPR to make two human infants that are resistant to HIV infection.

Robert Truog, director of the Center for Bioethics at Harvard Medical School (HMS) shares his thoughts: “To me, the conversation around Dr. He is not about the fundamental merits of germline gene editing, which in the long run will almost certainly be highly beneficial. Instead, it’s about the oversight of science. The concern is that with technologies that are relatively easy to use, like CRISPR, how does the scientific community regulate itself?’’

There will be greater responsibility that come with the newfound technology, and scientific communities must organize themselves through setting definitive guidelines and quality controls.


The developments from the 100,000 Genome Project have the potential to benefit large pools of people around the world who suffer from genetic disorders, through targeting specific cells. However, there remains some unresolved concerns to be tackled before genomics can truly become a global mainstream healthcare alternative.

According to scientists, it is believed that although the milestone project advances the diagnosis and treatment of rare diseases, it fails to provide swift and accurate treatment for more common ailments, which are better handled through generic treatment methods.

Additionally, there is the issue on genomic diversity that needs to be addressed by the global scientific community, to formulate a more inclusive genomic data to benefit people of all ethnic backgrounds. 

Perhaps in time, there might be a greater emphasis placed on the standards and ethics of effective genomic practices governed by an international panel of scientific authorities and legally supported by governments from around the world. As the UK’s Health and Social Secretary recently announced his desire to sequence 5 million genomes in the UK by 2024, this may soon be addressed.

Until then, the 100,000 Genome Project has been one gigantic step toward a world of tailored healthcare.