ALEX’s Story

Learning from our genes

Alex Masterson was five years old when he was diagnosed with Noonan syndrome – a genetic disorder that can cause heart defects and distinctive facial features. But he did not have a mutation in the genes usually known to cause the condition so his family never knew exactly what he had. His mum Kirsty, 46 from Rochester in Kent, says: “It was very difficult in the early years because we wanted to know what it was so that we could prepare ourselves and deal with it.” Through the years Alex, who is now 20, has had 28 operations, including the removal of multiple benign tumours, several bouts of heart surgery, stomach surgery, dental work and operations on his feet.

When his family found out about the 100,000 Genomes Project in 2014 at Guy’s and St Thomas’, they enrolled him straight away. This national project involves sequencing 100,000 genomes from people who have a rare disease or cancer. The genome is your body’s instruction manual. It is made up of DNA and there is a copy in almost every cell. Sequencing of his
genome revealed that Alex has a related rare genetic disorder called Leopard syndrome, also known as Noonan syndrome with multiple lentigines (NSML). Kirsty, a mother-of-two, says: “I cried when we got the diagnosis because it was such a relief to have an answer. “Although it won’t change his life expectancy or treatment options, it has given us closure after spending so many years wondering and might help other people in the future. “If Alex had been able to have the test as a baby we could have been prepared for what was to come and avoided years of diagnostic tests and uncertainty.” Alex says: “The diagnosis has helped my parents a lot because it’s been very hard for them to watch me going in and out of hospital not knowing the cause behind it. For me, it’s all just a part of my life.” 


Dr Melita Irving, consultant clinical geneticist at Guy’s and St Thomas’, introduced Alex and his family to the 100,000 Genomes Project. Dr Irving says: “The project is transforming genetic testing in the NHS, not just for families with a rare disease like Alex, but also for people with cancer and other medical conditions, helping to inform decisions about the most effective treatment for them.”

I cried when we got the diagnosis because it was such a relief to have an answer

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.