Whole Genome Sequencing (WGS) is the analysis of an individual’s entire DNA and is offered to patients who may have inherited diseases or cancer. Understanding what changes – or mutations – have occurred in someone’s DNA enables doctors to develop a personalised treatment plan for their condition going forwards.
As WGS Coordinator in the Cambridge Genomics Laboratory, Hannah’s job is unique. She is responsible for ensuring all the different elements in the WGS service run efficiently, from receiving a patient sample, to providing a written lab report: ‘I trouble shoot any issues that we have, from working with colleagues in other laboratories to checking data and dealing with email enquiries. To the best of our knowledge, I’m the only person in the country with this job,’ she explained.
A background in science coupled with project management skills are key requirements. Hannah graduated with a BSc in Biochemistry followed by a part-time Science MSc that included modules on medicinal chemistry and project management. She had also gained practical laboratory experience before starting the job.
Project management skills are vital for the efficient running of the service: ‘Project management is also about people and team building and considering how organisations operate. Understanding how these things influence my work is essential. I consider organisational, as well as scientific, problems.’
Perseverance and problem solving are also essential.
My job is also about identifying where the system could be improved and directing the right issue to the right person. New things crop up all the time; if I can’t solve a problem, I need to know who can fix it.Hannah Beasley-Suffolk
Hannah started her working life in the chemical industry but always wanted to pivot towards something more aligned with her education: ‘Lockdown gave me time to focus on finding a job that I really wanted to do – something involving biochemistry and medicinal chemistry.’
As luck would have it, Hannah’s sister forwarded the job ad for WGS Coordinator to her. She liked the look of doing something that was scientific but not in a lab. She recalled: ‘I didn’t have experience in genetics, but it sounded interesting and like something that I could do, so I applied.’
Her day-to-day work may involve anything from dealing with general lab enquiries and helping process a particularly complicated referral to supporting clinicians who have not requested a WGS test before. Because of the way that the WGS service is set up, Hannah needs to understand complex processes outside, as well as inside, the laboratory.
WGS is a new service and Hannah’s job is constantly developing. She explained: ‘It’s a very busy service. For example, this morning I have been trouble-shooting a sequencing failure on a sample. I needed to check a data failure, then liaise with the lab to see if the DNA was correct. Finally, I established that the sex of the patient’s sample had been reported incorrectly to start with.’
In the two years since she joined the lab Hannah has seen lots of change, the most dramatic being the increase in demand for WGS testing. The lab recently processed its 5,000th sample and some 40-50 new samples are currently being referred every day.
‘WGS is becoming more mainstream and can now be requested by most specialisms, not just clinical geneticists.Hannah Beasley-Suffolk
‘Although the actual information we collect won’t change there will always be changes to the way that we implement it. I have to look at what we are doing and try and find ways to improve it,’ she added. For example, the newborn genomes programme – to speed up the diagnosis of rare genetic diseases – was announced at the beginning of 2023 and will offer parents WGS for their babies at birth.
For Hannah, one of the most rewarding aspects of her work is finding an answer for families who have not yet had a diagnosis. She explained: ‘By the time a family gets to WGS, they have usually had other genetic testing but no answer. When we receive samples from complete families, often with very young children, you can feel the stress they are going through.
WGS is a complex system to arrange; to get patients through the pipeline and a report out of the other end is very satisfying. Those families that don’t get a diagnosis from WGS can choose to opt into a research project that may find answers for them in the future.Hannah Beasley-Suffolk
Hannah has also had unimagined opportunities. For example, when NHS England Chief Executive Officer Amanda Pritchard and NHS Genomics Programme Senior Responsible Officer Sue Hill visited the lab she was asked to talk to them with only 20 minutes’ warning. Hannah admits that her younger self would not have had the confidence to do this.
It’s a very exciting time to be working within the Genomic Medicine Service; the expansion and shape of the future service may seem mind boggling. And, being in a new role, Hannah can carve out what she wants from her career. ‘I am open to what I come across. We now have possibilities for roles that we didn’t even know we needed a short time ago. I could opt for organic progression, progress to a scientific or operational role or go somewhere else in the Trust. As the demands on the lab increase, there’s even more need for us.’
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