By means of genetics, diagnostics has witnessed transcendental developments. However, despite developments and the many promises genetics has made, its developments are yet to percolate to the larger population. A promising research and an expounding clinically viable diagnostic area, ‘from bench to beside’, was the theme for the recent CMEs conducted by Metropolis Healthcare in Mumbai and Bangalore. The idea of the CME was to disseminate knowledge on genetic testing and avenues it promises to deliver. The CME was addressed by Dr Aparna Rajadhyaksha and Dr Anurita Pais on chromosomal microarray and FISH, respectively. Dr Rajadhyaksha currently works in Miami Children’s Hospital in the Genetics Department and is also the co-director of the molecular genetics, cytogenetics and biochemical genetics labs. Dr Pais is the chief geneticist at the Worli lab of Metropolis.
Shedding light on the chromosomal microarray, Dr Rajadhyaksha took note of the path genetics has traversed from the discovery of cell to the break-through of polymerase chain reaction (PCR) testing. Following which she discussed the applications of newer technologies like chromosomal SNP-array, exome sequencing, whole genome sequencing and oligonucleotide arrays profiling for gene expression. The role of each of these tests was then explored by giving case based examples and how the application of these technologies helped in arriving at diagnostics and augmenting treatment outcomes.
Rolling back from the future avenues to the existing technology at Metropolis lab, Dr Pais elaborated on fluorescence in situ hybridisation (FISH), a technology available with only a handful of laboratories in India, Metropolis – Worli lab being amongst the few. FISH helps understand the biology of the disease, which in turn enables precise disease management and targetted therapies. The power lies in its potential to identify specific genetic aberrations. This ability has propelled this technique to the forefront of diagnostic procedures for pre-natal, clinical genetics and cancers. Not only are the applications of FISH wide, but it also ensures a high sensitivity and specificity with a rapid turnaround of testing. FISH has found significant application in diagnosis and prognosis of haematological malignancies and solid tumours.
Summing up the role of cytogenetics and molecular testing in cancers, focus was drawn towards the testing algorithms that ensures a fast comprehensive diagnosis and prognosis; with the identification of molecular markers for minimal residual disease identification and precise disease management in cancers.
The Metropolis CME fetched a highly positive reaction from the attendees which included some prominent names from the medical fraternity. The highest response was reportedly from the specialities of gynaecology, paediatrics followed by oncologists.
Reacting to the event, Dr Kishori Kadam, a prominent gynaecologist practising in Mumbai said, “We are extremely glad that genetics in India is actually moving from bench to bedside, and Indian diagnostics is making headway. Although there are concerns like cost and ethical issues related to these genetic tests, nonetheless it has a wide application. In gynaecology such tests have a definitive role in diagnosing and managing preventive genetic disorders.”