遺伝子工学の進歩
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概要

The Molecular Testing for Better Patient treatment Outcome

Upendra Kaul

Treating Cancer had always been big challenge to the Oncologist,Patient and care givers. For almost a decade treatmentoffered was based on approved chemotherapy regimens with orwithout radiation therapy. The chemo regimens would consistof two or three chemo drugs to achieve cumulative effect butoncologists would face daunting task in managing the drug relatedside effects. Perhaps the premises of “ One Size fits all”was working but side effects would take toll of psychologicaleffect and long time to recover from side effect even after gettingrid of disease. With the advent of sequencers ( Sanger &NGS) and RTPCR’S , the thought process of “ One size Fitsall” got changed to “ One size does not fits All” and started tostress on the individual treatment. Here the NGS played bigrole in sequencing Single Cell to Number of Genes (eg HotspotPanels) which bore the result in just 5-7% of Patient, but seeingthe positive impact on those patients resulted in researcherto think and individualise Diagnosis and treatment. So biggerpanels were planned having more number of genes to analysis;bore results. Researchers felt Job is half done; this sets the realisationthat deep Gene Investigations would help addressingthe root cause of disease, better response, faster recovery andminimal side effects. So today we have Gene/Sub-Gene Mutationinformation’s and treatment plans. Today with efforts ofthe researchers we have reached to stage wherein we are ableto address and obtain in one go; case in point is Lung Cancer,previously oncologists used to order single gene testing LikeEGFR-ALK- KRAS-ROS1-C-Met, but the information’s wouldcome in pieces. But NGS has helped doctors to analysis in onego. Not only all actionable genes are analysed in one go but youtoo get information on Fusion genes, like wise we have suchpanels for other cancers. All these efforts have led to betterpatient outcome and faster recovery and disease free. We havemoved from Platinum /Non Platinum based chemo to the oralchemotherapy to Targeted Therapies to Immunotherapy so on.NGS has opened doors for lot of research to address the cancerin better way, now looking at all the treatment options, Oncologistsare more and more using composite Panel Of 500 Genes+TMB+ PDL1+ MSI to weigh applicability treatment options.Now the researchers are focusing on Liquid Biopsy with twinintention, One to help those patients who don’t have tumourtissue and secondly to those who don’t want to undergo newbiopsy because of economic cost involved in the hospitalizations.CTC, cf DNA , ct DNA are becoming more and more inuse because it is proving its relevance. CTC is good progressivebio mark and help the oncologist to measure response to thetreatment It has been approved in Breast, Prostate and Coloncancers. Cf DNA, ctDNA has proved its relevance in breast,lung and other cancers and is not at all painful to the patientsUnfortunately not much