CASE STUDY : A BREAKTHROUGH THAT CHANGED THE FACE OF CANCER TREATMENT
In 2018 , MedGenome became the first company in India to launch the liquid biopsy test . Offered at a comparatively affordable rate in India than in USA , the test quickly become a popular tool for clinicians across the country .
Depending on the type of cancer , stage and clinical situation , the sample used for genomic profiling may vary . Among the available options , liquid biopsies are relatively new in India but can be used as an adjunct to conventional tumour biopsy for genomic testing . They can serve as a beneficial alternative , adjunct , or reflex to tumour biopsy for a particular clinical situation and offer significant advantages in some situations .
One of the patients diagnosed with lung adenocarcinoma with ROS1 fusion , was treated with a ROS1 inhibitor but the cancer relapsed . Since a repeat biopsy was not possible , the doctor recommended MedGenome ’ s LungTrackAdvance , an NGS-based liquid biopsy test . The accurate information from the test – the presence of a resistance mutation in the ROS1 gene – was used to provide her with an improved treatment plan .
CASE STUDY : TIMELY GENETIC COUNSELING HELPS A COUPLE TO TAKE AN INFORMED DECISION
A 39-year-old pregnant woman and her 40-year-old husband , with a history of two miscarriages and a previous healthy child was pregnant for the fourth time . Despite normal ultrasound results , first-trimester screening indicated an increased risk for fetal chromosomal abnormalities . Non-invasive prenatal testing ( NIPT ) revealed a high risk for DiGeorge syndrome , prompting confirmatory diagnostic testing . Amniocentesis and subsequent genetic testing confirmed a 3.1 Mb deletion in chromosome 22 , leading to a diagnosis of monosomy for this region . The couple ultimately decided to terminate the pregnancy following genetic counseling . This case highlights the potential of NIPT to detect chromosomal microdeletions and the importance of confirmatory diagnostic testing and genetic counseling to guide decisionmaking in such cases .
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