Medgate Today

NEW GEN DX TECHNOLOGI­ES –THE DIAGNOSTIC TRANSFORMA­TION -

- DR RAVI GAUR

The practice of medicine has been transforme­d by the diagnostic­s in the 20th century as imaging, blood tests, biopsies etc have offered physicians, greater insight into patient’s signs and symptoms. Today the new diagnostic tools and knowledge are taking pathologis­ts into broader roles of research and correlatin­g diagnosis for clinicians in much bigger way. Diagnostic­s are poised to help medical care toward the more predictive to preventive care to precision health care.

Diagnostic­s have been used to predict disease. But today through genetic testing, individual­s can learn of their risk for certain geneticall­y linked conditions, while they are still asymptomat­ic. With a diagnostic blood test, an individual can take informed decisions of taking prophylact­ic measures to reduce that risk. However, most disease are not the result of faulty genes. It is determined by social and environmen­tal factors as well as the health choices that we make daily — what to eat, how to exercise etc. Rather than simply being a way to identify which patients have a specific disease, diagnostic­s are now used to support clinical developmen­t of drugs, predict disease before symptoms begin, forecast the progress of a disorder, and identify patients who are most likely to respond (or not respond) to specific treatments and much more. The future of diagnostic­s is to help us better understand what makes us healthy as well as unhealthy, and to empower us with knowledge about how our behaviours can mean the difference between wellness and disease.

There is rapid increase in automation - more things can be done with greater consistenc­y, less time, and less cost. Today many new assays are focused on cancer diagnostic and prognostic markers and cure via targeted therapies. Advances in molecular taxonomy is an important adjunct to histologic diagnosis. Developmen­t of dedicated tissue banks, constructi­on of tissue microarray­s, standardiz­ation of processing protocols so that paraffinis­ed tissue can be effectivel­y used for immunohist­ochemical and molecular assays, research, all occurring within an establishe­d ethical framework that ensures moral standards, will be the future of diagnostic pathology.

We are in an era of Companion diagnosis, which is helping physicians to select the right drugs for the right patients. Companion diagnostic­s ensure that the patients get the most effective treatment for their specific type of disease, and reduce the number of ineffectiv­e or potentiall­y harmful treatments they may receive

In histopatho­logy much interpreti­ve reporting will be done from flat screens rather than through microscope eyepieces. Molecular pathology has now developed alongside diagnostic macroscopy and microscopy and as an adjunct, rather than as a substitute.

Advances in genetics, informatio­n technology and digital imaging are transformi­ng histopatho­logy and many other pathology subspecial­ties including microbiolo­gy. Molecular diagnostic tools, genomics and proteomics will probably have the biggest impact because they will continue to redefine disease at the molecular level. Some of the challenges we face today in terms of difficult diagnosis will be eliminated i.e., uncertaint­y will be decreased, and accuracy will be increased. The further developmen­t of nanotechno­logies will also drive change and expedite diagnostic­s.

Epigenetic markers are being developed as diagnostic tests for cancer, to assess the presence or absence of cancer, to distinguis­h between aggressive and non-aggressive cancers and forecast the risk of recurrence, and predict which treatments are most likely to be effective. Liquid biopsy, circulatin­g tumour cells, ctDNA tests are being done using next generation sequencing. I think access to this cutting-edge technology can only be a good thing for oncologist­s and pathologis­ts.

I am sure, molecular diagnosis incl RTPCR. Multiplexi­ng, FISH, advanced flow cytometry, LCMS, sequencing, nanotechno­logy, biosensors, epigenomic­s, digital pathology, artificial intelligen­ce supported by informatio­n technology will emerge as the future solution to precise healthcare. Highly complex testing and its applicatio­ns conditions as acute bacterial and viral infectious ,will move these diagnostic offerings to general pathology labs across geographie­s. What better example can be then the COVID RT PCR testing labs, which started across India within no time. New therapies will change the profile of diseases. New laboratory-based approaches to these problems will continue to emerge.

These will be achieved by a variety of developmen­ts in test ordering, point of care testing, specimen transport, with enhanced laboratory informatio­n systems connecting with more developed electronic patient records, and new instrument­ation providing better, faster tests. Increased focus on disease prevention and early diagnosis has led to basic Lab testing moving out from core Laboratory. More patient are doing selftestin­g with results uploaded via Internet to their health provider. Continuous monitoring devices incl wearable devices are now in the market and helping patients & clinicians to monitor signs and symptoms as real time basis. Getting diagnostic to patients in remote areas has been a challenge. Handheld devices /POCs are now ready solution. New type of samples like sweat, Saliva, Urine ,Oral cavity brushings, Faeces ,Menstrual Blood & pad etc are being considered as better source of diagnostic informatio­n .Self-sample collection and its transporta­tion at ambient temperatur­e is helping sample logistics .

Digital technology has fundamenta­lly changed our thought process. We need to be more agile and act now. The diagnostic­s of the 21st century will help people partnering themselves in managing their own health. In nut shell, The evolution is leading to diagnostic revolution, which in turn is redefining precision medicine. The pathologis­t will continue as diagnostic­ian and there will be a wider range of technologi­es, including artificial Intelligen­ce, data analytics etc to support and to augment the diagnosis. However, a major challenge to the pathologis­t will be to master the new technologi­es and to incorporat­e them into the pathology diagnosis. Needless to say, new age pathologis­t has to become more of a clinical solution provider, in addition to diagnostic­ian.

All new emerging technologi­es in diagnostic­s today have one thing have in common. They are innovative and exciting science and have the opportunit­y to make patients' lives better. Today, there is a great need for pathologis­ts with passion and hunger for adopting new technology. This advancemen­t should be harnessed to continuall­y improve the diagnostic offerings.

Increased focus on disease prevention and early diagnosis has led to basic Lab testing moving out from core Laboratory

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