3billion Inc, Rare Disease Diagnostics startup in Korea, has developed an automated system to reflect the latest findings on genetic variants and diagnosed many patients suffering from the diagnostic odyssey for several years.
In July of 2020, Dr. Alisdair McNeill, a Senior Clinical Lecturer in Neurogenetics at University of Sheffield, published an article on OXFORD Academic (SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect). He spent half of his time as a consultant in clinical genetics had been focusing on neurogenetics research. His academic focus was to identify novel causes of neurogenetic disorders, to define the clinical phenotypes and to understand family experiences of living with rare diseases.
In less than a year after he published his article, he received an email from 3billion. A representative of 3billion approached him to share the news that (4) six patients could get diagnosed because of his recent study. The first patient could not get diagnosed through the initial testing with 3billion. However, through the continuous reanalysis which reflected Dr.McNeill’s finding, this patient could get diagnosed on December 6th, 2020. This was just less than 5 months after Dr. McNeill published his article. “I was surprised that such a recent publication would be incorporated into clinical reporting so rapidly. It is a good practice that the latest evidence is incorporated,” Dr. McNeill said.
By releasing cases like Dr.McNeill’s, 3billion wants to convey its appreciation for all the effort and contribution that many researchers are bringing to society. And 3billion promises to take their academic effort to integrate into its solution on a daily basis so more and more patients can get benefits from it. “We hope that Dr.McNeill’s story will encourage and inspire many researchers and leaders in the industry to contribute to society, and we will be always there with them,” Keum, the CEO of 3billion said.
3billion provides reanalysis services at no additional charge for patients who initially could not be diagnosed with the company’s tests to resolve as many cases as possible over time. And those new findings, just like Dr.McNeill’s article, will be applied for all the new analysis and reanalysis to increase diagnostic rates for all patients. After integrating this automated system, 3billion’s reanalysis solved 10% of undiagnosed cases.
3billion conducted a written interview of Dr.McNeill. The original interview can be found at the link: