The power of genome sequencing was illustrated in the findings of a study published in The New England Journal of Medicine in November. Which investigated the UK 100,000 Genomes Project.
How Genome Sequencing Is Revolutionizing Healthcare
According to the authors of the study, approximately 6% of western populations are affected by approximately 10,000 rare diseases. More than 80% of which have a genetic component.
The power of genome sequencing was illustrated in the findings of a study published in The New England Journal of Medicine in November. Which investigated the UK 100,000 Genomes Project.
According to the study authors, approximately 6% of Western populations are affected by approximately 10,000 rare diseases. More than 80% of which have a genetic component.
One third of children with a rare disease die before their first birthday
These diseases are notoriously difficult to manage, often debilitating for the patient, and costly to treat. One third of children with a rare disease die before their 1st birthday. The project has been compiling a genome database with the intention of studying rare diseases, cancers and infections since 2013.
To assess the efficacy of whole genome sequencing in diagnosis, the researchers used a cohort of 4,660 participants with 161 rare disorders. They found that 25% of the diagnoses they made had “immediate ramifications for clinical decision making.”
Overall, the researchers concluded that whole genome sequencing resulted in “a substantial increase in the throughput of genomic diagnostics.”
Here are two other areas where whole genome sequencing is revolutionizing diagnosis and treatment.
COVID-19
SARS-CoV-2 and many similar viruses change over time. That’s why headlines everywhere are littered with news about emerging variants of concern, like Delta and Omicron.
But how do scientists control these changes? Increasingly, they are using WGS to perform genomic surveillance. A tool used to monitor changes in organisms over time. And understand how those changes could affect the characteristics of the diseases they cause.
During the pandemic, scientists have been using WGS and genomic surveillance to:
Monitor the development of new variants
Understand how changes in SARS-CoV-2 affect the severity of COVID-19, its transmissibility, its response to treatments such as vaccines, and virus detection.
Identify possible outbreaks
As CDC and its public health partners sequence more SARS-CoV-2 genomes, “we will improve our understanding of which variants are circulating in the US, how quickly the variants emerge, and which variants are the most important. to characterize and track in terms of health, “wrote the CDC.
Critically ill babies
In 2019, a group of researchers decided to apply WGS to the clinical management of a population of 354 acutely ill babies. Half of the cohort received their WGS clinical results after 15 days (the early group) and half received their results after 60 days (the late group). Their findings, which were published in JAMA Pediatrics in September, demonstrated that the WGS diagnosis was associated with “a significant increase in focused clinical management compared to usual care.”
Upon receipt of the WGS clinical results, twice as many infants in the early group received a treatment change compared to the delayed group.
Patients with a pathogenic finding of WGS were three times more likely to receive a treatment change. The most common management changes involved: subspecialty referrals (11%), surgery or other invasive procedures (4%), medications for specific conditions (2%), or other supportive alterations in medication (3%).
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