Predictive genomic tools in disease stratification and targeted prevention: a recent update in personalized therapy advancements
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Date
2022-11
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Abstract
In the current era of medical revolution, genomic testing has guided the healthcare fraternity to develop predictive, preventive,
and personalized medicine. Predictive screening involves sequencing a whole genome to comprehensively deliver patient care
via enhanced diagnostic sensitivity and specific therapeutic targeting. The best example is the application of whole-exome
sequencing when identifying aberrant fetuses with healthy karyotypes and chromosomal microarray analysis in complicated
pregnancies. To fit into today’s clinical practice needs, experimental system biology like genomic technologies, and system
biology viz., the use of artificial intelligence and machine learning is required to be attuned to the development of preven
tive and personalized medicine. As diagnostic techniques are advancing, the selection of medical intervention can gradually
be influenced by a person’s genetic composition or the cellular profiling of the affected tissue. Clinical genetic practitioners
can learn a lot about several conditions from their distinct facial traits. Current research indicates that in terms of diagnosing
syndromes, facial analysis techniques are on par with those of qualified therapists. Employing deep learning and computer
vision techniques, the face image assessment software DeepGestalt measures resemblances to numerous of disorders. Bio
markers are essential for diagnostic, prognostic, and selection systems for developing personalized medicine viz. DNA from
chromosome 21 is counted in prenatal blood as part of the Down’s syndrome biomarker screening. This review is based on
a detailed analysis of the scientific literature via a vigilant approach to highlight the applicability of predictive diagnostics
for the development of preventive, targeted, personalized medicine for clinical application in the framework of predictive,
preventive, and personalized medicine (PPPM/3 PM). Additionally, targeted prevention has also been elaborated in terms of
gene-environment interactions and next-generation DNA sequencing. The application of 3 PM has been highlighted by an
in-depth analysis of cancer and cardiovascular diseases. The real-time challenges of genome sequencing and personalized
medicine have also been discussed.