Summary
A preliminary report from the 100,000 Genomes Project was published this month.
Whole-genome sequencing proved to be of high value in rare disorders. For example, 25% of participants who could not receive a diagnosis with usual care, were diagnosed for the first time with the technology. Of these new diagnoses, 14 percent were found in regions of the genome that other genetic tests would not have revealed.
Recently, a genomic initiative was started to decode factors that play a crucial role in severe Covid versus mild and asymptomatic cases.
Countries like Mexico are starting their own 100,000 Genomes Project for health research.
A report (in hyperlink) to evaluate the utility of whole-genome sequencing to diagnose rare diseases was recently published in the New England Journal of Medicine. Speaking to the media on the findings, Rich Scott, Chief Physician of Genomics England, said that genome sequencing helped to diagnose 25% of the participants for the first time.
Of these new diagnoses, 14% were found in regions of the genome that other genetic tests would not have revealed. This was good news for families who were previously in the dark on why their children suffered abnormalities.
The project included 4660 participants who have a rare disease and have not been diagnosed with the usual care in the UK healthcare system.
The report was part of the UK's 100,000 Genomes Project, which was started in 2013, to sequence 100,000 genomes from around 85,000 NHS patients affected by a rare disease or cancer. This was achieved in 2018. The hope is that such genomic data would shed light on diagnoses and lead to tailored treatments for these individuals.
As part of the UK 100,000 Genomes Project, a research collaboration called the Genomics England Clinical Interpretation Partnership (GeCIP) was created to translate the 100,000 Genomes Project results into tangible benefits for the participants.
Around 2600 researchers from around the globe have joined the initiative. They are organized by focused groups, namely, in 38 disease domains such as rare cardiovascular disease and colorectal cancer. It is also possible to further nominate disease or tumor type for research
In addition, Genomics England is working in partnership with the GenOMICC consortium, led by the University of Edinburgh, to analyze the whole genome sequences of approximately 20,000 people who have been severely affected by COVID-19. By comparing these genomes to those of 15,000 people mildly affected by Covid not requiring hospitalization, researchers could potentially identify factors playing a part in how sick people become.
Hoping to make new headway into genomics, Mexico is also currently recruiting participants for its national 100 000 Genome Project: the OriGen Project.
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