New medical technologies and innovations have greatly enhanced the how scientists are able to work with genetics. Gene therapy treatments, analysis of fully sequenced genomes, and simplified genetic tests are just a few examples of how researchers are leveraging new capabilities to improve genetic healthcare. Below, DocWire News has compiled the most recent and significant headlines regarding medical innovations in genetic technologies.
Using Gold Particles to Treat Genetic Diseases
By using gold nanoparticles to deliver gene therapy agents to stem cells, researchers from the Fred Hutchinson Cancer Research Center have made a breakthrough in gene-editing capabilities and potential disease treatment. Typical gene therapies via CRISPR systems use electric shock or viral vectors to deliver the editing tools to targeted DNA, but this work published in Nature Materials suggests that gold nanoparticles may serve as a more scalable delivery vehicle.
Genomic Study Finds New Genetic Variants in Diabetic Patients
A group of researchers have recently identified several DNA alterations that are linked to type 2 diabetes. Analyzing coding genes from almost 46,000 individuals, the study was one of the largest sequencing studies of its kind conducted to date, and included data from European, African American, East and South Asian, and Hispanic/Latino people. The work was published this week in the journal Nature.
Exome sequencing in #T2D #diabetes of more than 44K cases and controls: new insights, new protective variants, drug targets, small impact of rare variants, but we need perhaps ~185K to learn more https://t.co/JAUOMJm4qB #openaccess @Nature pic.twitter.com/rXnA8f1IZ7
— Eric Topol (@EricTopol) May 22, 2019
First U.S. Cancer Patients Treated with CRISPR Gene-Editing Therapy
Patients have been treated in the U.S. using CRISPR gene-editing for the first time, with a University of Pennsylvania study utilizing the technique in treating cancer. Scientists have been hopeful that CRISPR could be used to treat many diseases, and these Penn researchers are optimistic about the trial.
Two patients were treated, one with sarcoma and one with multiple myeloma. Both of these patients had undergone standard treatment but were unable to eradicate their disease, and are instead partaking in the first case of CRISPR use in humans in the U.S. With recent news of a Chinese scientist using CRISPR to make genetically modified babies there is much controversy around the technology, however the science community is eager to see how the technique can help those with disease.
How Genomics Can Save Newborn Infants
Rapid whole genome sequencing may provide hope for critically ill children, particularly infants, according to a study published in Science Translation Medicine. Overall, the findings suggest that automated whole genome sequencing may enhance diagnosis and treatment of various genetic diseases. In the present study, researchers analyzed whole-genome sequencing and electronic health record (EHR) data from dried blood spots of 101 children with 105 genetic diseases. Bead-based library preparation was conducted from blood samples, and sequencing was done by pairing 100 nucleotide reads in 15.5 hours. Phenotypic information was extracted from the EHR with the use of clinical natural language processing (CNLP), with 80% precision and 93% recall.
Implications of Direct-to-Consumer Genetic Tests for Patients and Providers
With direct-to-consumer (DTC) genetic tests like 23andMe becoming increasingly prevalent, physicians must prepare themselves to discuss such tests with patients. Though these tests are growing in popularity, their efficacy is still in question and there are several confounding variables that can skew results. When patient’s come to their physician with results from these DTC tests, it is imperative these providers are well informed of the test’s implications.
“The genetic testing offered by companies like 23andMe and most direct-to-consumer testing is not medically useful, and patients should not think they are getting genetic testing that will help with their medical management,” Dr. Wendy K. Chung from Columbia University, New York, NY, told Reuters.
If you’re looking for a solid, balanced review of direct-to-consumer #genomics—and how these tests can be used clinicians—here it is: https://t.co/3uVJda4oO2 by @kirylukk and colleagues @ColumbiaMed @23andMe pic.twitter.com/tS9g6XoEGn
— Eric Topol (@EricTopol) April 30, 2019
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