The concept was an easy one…. yet the journey to operationalize this was challenging, especially in pediatrics. There were numerous logistical and ethical challenges to overcome. This was very early days of genomic sequencing – and there were real concerns about the ethics of sequencing pediatric patients, who could not consent for themselves. Is it ok to sequence a child’s germline genes and risk discovering adult onset conditions, incidental findings and variants of uncertain significance? Is it ethical to get a biopsy on a child and put them through an invasive procedure given that there may not be a clinical need for that biopsy. Surgeons, interventional radiologists, pathologists and the pathology technicians needed to change their ways of handling the specimens so that DNA and RNA could be extracted. Geneticists and ethicists formed a germline review committee with clinicians. This took hours of meetings and discussions to enable change. The success of this project came down to literally dozens of individuals from across various disciplines (oncologists, pathologists, ethicists, geneticists, informaticians, genetic counsellors) who spent hours of their time in order to create the protocol and operating procedure to finally launch our project in October 2013.
