Everything You Need to Know about the 100,000 Genomes Project

Everything You Need to Know about the 100,000 Genomes Project

The 100,000 Genomes Project is a British initiative led by the National Health Service (NHS). In this article we explore the project’s main aims and how data gathered could increase our scientific understanding of a wide range of diseases, from rare genetic disorders to cancer.

What is the aim of the 100,000 Genomes Project?

Genomics England

The principal objective of the project is to sequence 100,000 whole genomes. This will help researchers create a centralized inventory of genetic markers associated with serious and life-threatening diseases.

Since the Human Genome Project was completed at the beginning of the 21st century, scientific understanding of genetics and its impact on health and disease has increased significantly. As a result, medicine is transitioning from a one-size-fits-all approach to personalized care plans. This approach takes into account not only of the genetic characteristics of disease, but also the unique genetic makeup of the patient.

The NHS service is undergoing rapid transformation in the way it provides patient care. The organization intends to implement whole genome sequencing as an integral part of mainstream medicine to diagnose and treat British patients.

Genomic sequencing is a groundbreaking resource. It gives medical practitioners unparalleled insight into a person’s genetic makeup. It has long been established that our genes can make us more susceptible to disease, but they can also have a huge impact upon the way we respond to treatment.

On December 5, 2018, British Health Secretary Matt Hancock announced that the 100,000 Genome Project had reached its objective of sequencing 100,000 whole genomes. Scientists will utilize data gathered from the initiative to improve the diagnosis and treatment of cancer as well as a range of rare inherited diseases.

What is the history of the 100,000 Genomes Project?

In 2012, former British Prime Minister, David Cameron implemented this pioneering research program. The project is a collaboration between the NHS and Genomics England.

It entailed the creation of 13 state-of-the-art NHS Genomic Medicine Centers. Over 3,000 researchers, 1,500 NHS staff, and 85,000 participants have taken part in the 100,000 Genomes Project to date.

Experts project the overall cost to be around £300 million. By contrast, The Human Genome Project, a US-led initiative in which scientists sequenced the human genome for the first time, cost an estimated $3 billion. This reflects a dramatic decrease in the cost of sequencing technologies in recent years.

What impact will genome sequencing technologies have on modern medicine?

The Human Genome Project successfully concluded in 2003. At the time, it was mankind’s greatest advancement in terms of understanding the role genes play in human health and disease.

Data gathered during the Human Genome Project is still relevant today. Indeed, it is extremely important. It helps scientists identify genetic markers associated with rare, hereditary diseases and enables medical practitioners to diagnose and treat a variety of illnesses.

In the wake of the Human Genome Project’s groundbreaking achievements, investment in gene sequencing technologies increased significantly. Sequencing a whole human genome once took a decade and $3 billion to achieve. Specialists can now accomplish the same task in less than a day for a cost of only $1,000.

The falling cost of gene sequencing has facilitated its gradual integration into mainstream medicine. This relatively new scientific field has already contributed to major breakthroughs in the way clinicians diagnose and treat disease, including identification of the BRCA1 cancer-causing gene mutation.

What diseases could whole genome sequencing help diagnose and treat?

Genetic testing is already implemented in many countries worldwide as part of prenatal and newborn screening. Many couples opt for pre-conception genetic carrier screening as part of the family planning process. Prenatal tests screen for a variety of gene mutations, as well as infectious diseases and chromosomal abnormalities.

Newborns undergo “heel prick” tests to screen for a variety of genetic diseases. These include cystic fibrosis, sickle cell disease, congenital hypothyroidism, and inherited metabolic disorders.

Genomic medicine is not only implemented in diagnosing disease, but it can also play a pivotal role in prescribing the right treatment. Nowhere is this more apparent than in the treatment of HIV/AIDS. The development of antiretroviral drugs revolutionized the treatment of this previously fatal disease. Nevertheless, many patients experienced serious adverse reactions which could in themselves be life-threatening.

Scientists identified certain common genetic markers predisposing patients to adverse antiretroviral reactions. Towards the end of the 1990s, clinicians implemented genetic screening when treating HIV/AIDS patients. Today, clinicians regard genetic screening as an integral part of HIV/AIDS diagnosis and treatment. 

When the disease was first identified, the life expectancy of a person diagnosed with HIV/AIDS was between five and six months. Thanks to the development of antiretrovirals and the integration of genomic medicine, a person diagnosed with the disease today can expect to live to around 73 years of age.

In no other medical field has genomic medicine been used to greater effect than in the treatment of HIV/AIDS. It has transformed a once-fatal disorder into a manageable condition. Scientists hope data collected from the 100,000 Genomes Project will pave the way for similar breakthroughs in the treatment of cancer and a host of rare genetic disorders.

Dr. Harry Stylli is a healthcare investor and entrepreneur. In his role as chair at OncoCellMDx, Dr. Harry Stylli strives to help physicians not only identify signatures of disease, but also gather crucial information about a cancer’s aggressiveness and staging. Dr. Harry Stylli has provided executive leadership to numerous innovative companies. Dr. Harry Stylli also serves as founder and executive chairman of Progenity, a genetic testing company catering to women and expectant parents as well as to individuals with potential familial cancer risks. You can connect with Dr. Harry Stylli at LinkedIn

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