From understanding the genetic basis of epilepsy to identifying the underlying causes of infections, researchers are discovering new applications of genome sequencing that promise to speed up diagnosis and help healthcare providers determine the right treatments for their patients sooner. The sector also continues to focus efforts on increasing COVID-19 testing capacity and improving cancer screening.
Genome sequencing
In late October, PacBio announced that they teamed with Invitae to develop whole genome sequencing-based assays for pediatric epilepsy diagnostics. For children presenting with seizures, this is fantastic news because genetic testing can help their healthcare providers understand whether their symptoms can be traced to a genetic cause. Since more than half of epilepsies can be traced to an underlying genetic condition, this is expected to greatly improve the speed of diagnosis, critical in cases that are potentially neurodegenerative—when every day counts.
Two recent studies indicate that parents and physicians see genome sequencing for seriously ill infants as a valuable part of their care. According to 360DX, 97% of parents found genetic testing to be useful, even though less than a quarter of the corresponding infants were diagnosed with a genetic disease. As David Dimmock from Rady Children’s Institute for Genomic Medicine said, “These results underscore the importance of rapid test results in changing care.”
A metagenomic next generation sequencing-based approach to identifying the cause of infections in patients has been developed by researchers led by the University of California, San Francisco’s Charlies Chiu. Clinicians need to understand the cause of infections to determine the best treatment approach and antibiotics for their patients. This new method, which involves identifying pathogens from cell-free DNA in body fluid samples, has been found to have high sensitivity and specificity. Even better, the researchers suggest results could be delivered within six hours or less, meaning that patients could receive more targeted treatments and recover from infections much more quickly.
UK Biobank has released exome-sequence data for the first 49,960 of 500,000 study participants. Their goal is to give access to the data to researchers around the world to accelerate genomic discovery and enable advances in population genetic analyses. The results are already promising, with the discovery that 2% of study participants so far have a medically actionable loss-of-function (LOF) genetic variant. The researchers suggest that “integration of large-scale genomic and precision medicine initiatives offer the potential to revolutionize medicine and healthcare.”
Jackson Laboratory (JAX) won a $3.4 million grant from the National Human Genome Research Institute (NHGRI) to study the ethical, legal, and social implications of workplace genomic testing in the U.S. JAX aims to analyze the prevalence of workplace genetic testing and workers’ views on the testing by interviewing executives and employees. Researcher Charles Lee said that this type of testing “raises substantial legal and policy concerns,” which is why it’s so important to understand its benefits and risks.
Other news
In COVID-19 news this month, Helix received an expanded Emergency Use Authorization (EUA) for the HelixⓇ COVID-19 Test. The test can now be used by people who are asymptomatic and performed without the supervision of a healthcare professional. That reduces the logistical challenge of getting testing sites and collection centers up and running, and should help to address clinical staffing shortages across the country. Considering the rapid increase in positive cases occurring across the U.S. right now, this is welcome news.
Following last month’s news of Illumina’s plan to re-acquire GRAIL, a second early cancer detection startup has potentially been snapped up. Exact Sciences announced plans to acquire Thrive Earlier Detection to help it accelerate the approval, availability, and adoption of multi-cancer screening. As Jason Mast, associate editor for Endpoints News, said, these acquisitions reflect “a deep faith in corners of the diagnostic and sequencing worlds in the power of a technology now years in the making.”
Finally, shifting focus somewhat, we’d like to highlight an article penned by Sara Goudarzi for Lab Manager in which she discusses why labs should be part of the social media community on platforms such as Twitter, LinkedIn, Facebook, Instagram, and even TikTok. Goudarzi suggests that labs leverage social media to:
- Stay abreast of sector research.
- Share their own research.
- Make connections with others in the field.
- Post job vacancies and connect with potential talent.
She recommends that having an online presence “helps not just laboratories and organizations but also the researchers and technicians themselves—this is especially pertinent as the world struggles with a pandemic that affects all sectors, including labs, many of which are engaged in relevant research and testing.”
Here at Semaphore Solutions, we agree that sharing not just research on social media, but also personal experiences, is a key way to build a community. It broadens your network, deepens your knowledge and expertise, and is sure to spark new ideas that could lead to innovative solutions to complex problems. If you’d like to connect with us on social media, you can find us on LinkedIn, Twitter, and Facebook where we share interesting sector news, company updates, and current job openings.
If you would like to discuss how software can better support and accelerate the innovative work you do, contact us today.
