Race for the Genomes!
Today, competition among countries has taken different forms. On the one end it is taking them into outer space while on the other extreme it is taking them deep inside the living cell! Mysteries around the human DNA, the basic fabric of inheritance that codes for human life itself, had been unraveling for over four decades. The potential of DNA in personalised, precision and preventive health care is immense, one that can revolutionise medical science and public health interventions. Genomics is a proposition that is finally coming of age.
At the start of the COVID-19 pandemic, Genomics, the study of the genome, was a field confined to the pristine high-tech laboratories, often seemingly distant and considered too academic to be a part of our day-to-day activities. With the pandemic now raging for almost two years, genomic terminologies have become part of everyday parlance while discussing COVID-19!
At the turn of the century, the first draft of the human genome was published, a breakthrough that took over a decade to accomplish! This was probably the first time when the DNA sequence was looked at from the viewpoint of public health rather than being in the confines of research laboratories studying microbes, insects, plants and small animals.
Various population genome sequence projects later, we are now in a space where most of the gene variants occurring in different world populations are known. It is also known what these gene variants mean in terms of health, such as susceptibility to infections, manifestation of genetic disorders, cognitive abilities, allergies and response to drugs.
A 0.1 per cent difference in our genomes makes us widely unique, not just as personalities but at the genetic level too! It is this difference that has intrigued scientists in the last few decades as they continue to decipher how we, as individuals and as a population, interact with our internal and external environments, and how all this influences our health, from prebirth to health conditions that develop later in life. The primary focus is on using this knowledge for better health care.
A person may have gene variants which puts him or her at risk for a particular disease as compared to someone with another variant of the same gene. Identification of such variants, especially those whose manifestation may lead to life-threatening outcomes, ahead of time could enable an efficient disease management, or even prevention. This approach has precipitated the concept of ‘personalised’ medicine as against the conventional ‘one size fits all’ approach, which treats the manifested symptoms based on general clinical guidelines.
Advent of genome sequencing technologies
It took us over a decade to sequence and assemble the first human genome. As of now, there is a theoretical capacity to sequence thousands of human genomes annually! With DNA testing technologies becoming affordable, the question now is ‘how fast’ rather than ‘if’ genomics will impact health care.
International genome sequencing initiatives
The awareness on precision medicine and the impact it can have on health care in general has been realised globally. This has led to the launch of multiple international genome sequencing initiatives. Within the past decade governments of at least 14 countries had invested over US$ 4 billion by 2019 in establishing national genomic-medicine initiatives to address implementation barriers and democratise genomics by performing transition genomic testing, ranging from centres of excellence to mainstream medical practice. The most ambitious one, however, is the China Precision Medicine Initiative, a 15-year, US$ 9.2 billion project, aiming to sequence 10,00,00,000 genomes by 2030!
During 2013–2018, UK’s Genomics England (GEL) received US$ 415M as government funding and completely sequenced 1,00,000 genomes from patients, with over 100 rare diseases and seven common cancers, including their family members. Further, GEL has established centralised infrastructure for the delivery of diagnostic wholegenome sequencing (WGS) services, including an NHS Genomic Sequencing Centre in partnership with Wellcome Trust and Illumina. There are further plans of sequencing 50,00,000 more genomes in the next few years in the clinical and research environments, thereby further strengthening UK’s leadership in genomics.
The French Plan for Genomic Medicine 2025 aims at integrating genomic medicine into health care and establishing a national genomic-medicine industry that promotes innovation and economic growth. Under this initiative the initial clinical pilot projects have been launched in the areas of rare disease, cancer, common disease (diabetes) and a population cohort to test technological, clinical and regulatory barriers facing implementation. With France’s capability of sequencing nearly 2,35,000 genomes per year in 2020, 20,000 patients with rare disease and 50,000 patients with metastatic or refractory cancer are expected to be sequenced.
The United States has been investing in genomic-medicine implementation since 2011 beginning with the launch of a new strategic plan of the National Human Genome Research Institute (NHGRI). These landmark projects are establishing evaluation frameworks and providing evidence on the diagnostic, clinical and economic value of genomic sequencing in specific patient groups (healthy and acutely unwell newborns; individuals with complex, undiagnosed rare genetic conditions; and those in specific health care settings, such as primary care and cardiology clinics). With a funding of US$ 500M in 2016–17, and a funding commitment of US$ 1.455B from All of Us Research Program, they are now engaging 10,00,000 volunteers of all life stages, health statuses, races and ethnicities, and geographic regions, thus reflecting the human diversity of US. These programmes are integrating research with lifestyle, environment and genetics with the hope of leading to the development of innovative prevention strategies and treatments.
[Next: Being Precise: Genomic Medicine]
The article is first of three parts of a larger article published in the September-October 2021 issue of Invention Intelligence, a magazine published by the National Research Development Corporation (NRDC), A DSIR Enterprise, Ministry of Science & Technology, Government of India.
Also read Part-2 (Being Precise: Genomic Medicine) and Part-3 (Genomics to the rescue!)
