Medicina de precisão do Hospital Israelita Albert Einstein

The 100000 genomes project

Understand what the 100,000 genomes project is, its main pillars and its importance for the health system
Projeto 100.000 genomas
Projeto 100.000 genomas

In clinical medicine, many disorders found have a genomic basis, such as cystic fibrosis, polygenic diseases and inherited cancer, for example. The new sequencing technologies have transformed the capacity, the speed and the cost of genome sequencing, providing advances and opportunities for application in clinical medicine in the health system, however, this expansion requires new infrastructure.

In December 2012, the UK Prime Minister, David Cameron, announced a whole genome sequencing program (WGS) as part of the government’s Life Sciences Strategy. The main objective of the 100,000 Genomes Project is to sequence 100,000 genomes of patients with cancer, rare diseases and infectious diseases, and to link the sequence data to a standardized and extensible report of diagnosis, treatment and results.

The result of this project will be made available for academic and industrial research purposes, including clinical organizations contributing to the UK health system. The Genomics England, responsible for the 100,000 genomes project, works with several organizations in England and Northern Ireland, also with research groups and funding organizations, to ensure that the new research capacity is fit for purpose and that data is acquired and managed according to the appropriate standards.

To provide a scalable sequencing platform, bioinformatics is essential, as it allows this service to be widely available in the health system. Genomics England has developed platforms and automated pipelines for processing, quality checking and storage. By providing access to data resources, it is possible to develop new knowledge, methods of analysis, medicines, diagnostics and devices.

This project could provide clinical diagnosis and, in time, new and more effective treatments for several patients with genetic alterations that cause diseases. With the consent of the patients, there is a database of genomic sequences continuously updated over time with information for analysis by researchers.

The project has three main pillars:

  1. Rare diseases: who recruited people with rare diseases and their families to identify the genetic variants that cause the disease;
  2. Cancer: recruiting patients with lung, breast, colon, prostate and ovarian cancer to identify cancer-causing mutations and understand the evolutionary genetics of the disease;
  3. Infectious diseases: sequencing performed on pathogens (viruses and bacteria) to provide information on species, virulence, transmission and antimicrobial resistance, which can also be used for infection control.

In April 2018, more than 70,000 participants were recruited for the project and more than 55,000 genomes were sequenced, with more than 10,000 reports with complete genome analysis returned to the health system. This project accelerated the evolution of IT infrastructure, development of data pipeline and development of technology and specialists. At the end of the project, the service will provide the whole sequencing of the centralized and accredited genome in the health system with results captured allowing a continuous evolution of this initiative.

The project was finished in late 2018, with 100,000 sequences achieved. Discoveries were made in 1 patient for every 5 participants with rare diseases, and in approximately 50% of cancer cases they had potential therapy. Many stories of patients relevant to the study, such as those diagnosed and who had potential therapy, were published in articles or on the project’s website, showing the importance of the project in the patient’s lives who participated. In addition, the project was the basis for the application of the whole genome sequencing technique in the health system, providing more and more accurate diagnoses and targeted therapies, improving the quality of life of many patients.


[1] DHEENSA, Sandi; LUCASSEN, Anneke; FENWICK, Angela. Fostering trust in healthcare: Participants’ experiences, views, and concerns about the 100,000 genomes project. European journal of medical genetics, v. 62, n. 5, p. 335-341, 2019.

[2] FEERO, W. Gregory. Introducing “genomics and precision health”. Jama, v. 317, n. 18, p. 1842-1843, 2017.

[3] MOSS, Celia; WERNHAM, Aaron. The 100 000 Genomes Project: feeding back to patients. bmj, v. 361, 2018.

[4] PEPLOW, Mark. The 100 000 genomes project. Bmj, v. 353, 2016.

[5] SIVA, Nayanah. UK gears up to decode 100 000 genomes from NHS patients. The Lancet, v. 385, n. 9963, p. 103-104, 2015.

[6] TURNBULL, Clare et al. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. Bmj, v. 361, 2018.

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