Next Generation Sequencing for the Practicing Radiologist (RSNA 2019, Sun Dec 01 – 06)

TEACHING POINTS

Next Generation Sequencing (NGS) is a technique of reading the entire genome or screening few relevant genes for aberrations. NGS sequences DNA parallelly thus resulting in reduced price and high speed of genome sequencing.

For Onco-Radiologists: NGS, can detect inherited or sporadic germline mutations or acquired changes i.e. somatic mutations on tumour tissues. Identification of germline mutations helps in confirming the diagnosis better management of diseases, prognosis and suggest preventive and surveillance measures for at risk unaffected relatives. Few radiological outcomes are spot diagnosis for a few cancer genetics syndrome. Somatic analysis of tumour biopsy helps in predicting the response of targeted therapy, prognostication and pharmacogenomics. For Ultrasonologists – For prenatal cases with abnormal USG findings, Non – Invasive Prenatal Techniques (NIPT), is a test that detects small amounts of cell free fetal DNA in the maternal bloodstream, allowing prenatal genetic diagnosis through maternal blood.

TABLE OF CONTENTS/OUTLINE

What is next generation sequencing?

Germline vs somatic mutation detection

Germline – applications in clinical care

Somatic mutations – large gene panels – what is their use?

NIPT – how can radiologists use it Imaging + genomics – the future?