Artificial Intelligence-based technology accurately detects genetic diseases in infants

Oct 21, 2021 | Shaoni Ghosh

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Ever since Artificial Intelligence-based technology has ventured into the technological space, the varied applications that it flowered in the process, have actually been able to transform the underlying strata of 'what-ifs'. 


The Healthcare realm has been turned upside-down for the better, with the advent of AI, extending the horizon beyond the unimaginable mindscape.


(Must Check: Role of Artificial Intelligence in Healthcare)


The Research


A technique based on artificial intelligence may quickly and accurately detect uncommon diseases in critically sick youngsters.


The University of Utah Health, Fabric Genomics, and Rady Children's Hospital collaborated on this research. The findings point to the next era of medicines in which technology can assist physicians in determining the aetiology of ailment.


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Mark Yandell, PhD, stated that this research is a big step forward in proving how AI-powered decision assistance tools may enhance patient care considerably.


Each year, around seven million infants are born with severe genetic abnormalities. NICUs throughout the US are now studying, or sequencing, the three billion DNA letters that characterize the human genome to search for hereditary reasons for illness. 


Yandell has designed a unique AI-based algorithm for detecting DNA abnormalities in infants that cause illness. Yandell claims that getting a diagnosis during the first 24 to 48 hours of delivery offers newborns the best opportunity of improving their health.


According to the research, GEM outperforms conventional solutions and pinpoints the source of an illness 92% of the time. The researchers analyzed whole genomes of 179 previously diagnosed infants. 


The collaboration has led Fabric to reach an unparalleled degree of precision, paving the way for the widespread adoption of AI-powered whole-genome sequencing in the NICU.


GEM connects patient genome sequencing and medical records to huge databases of genomic sequencing from a variety of populations, clinical illness data, and other medical datasets. GEM can work using natural language processing techniques to sift through medical records.


According to research, published in Genome Engineering and Biomarkers, GEM can detect structural variations that trigger 10-20% of genetic diseases.


(Also Check: What is Genetic Engineering? Types, Process & Applications)


The Breakthrough


As reported by HealthITAnalytics, Luca Brunelli, MD, a neonatologist and professor of pediatrics at U of U Health who leads a team that uses GEM and other genomic analysis tools to diagnose NICU patients, stated that being able to spot with more precision opens a new horizon. 


These AI technologies can now clarify why a kid is unwell, help clinicians better control sickness, and ultimately contribute to a cure.


Yandell stated that it is a big breakthrough made feasible by AI. Genome sequencing for NICU applications becomes more cost-effective and scalable with GEM. This was accomplished through the collaboration of an international group of clinicians, scientists, and software developers.

Tags #Artificial intelligence