Kelly O'Flanagan is a healthcare scientist within the neurogenetics team at Cambridge Genomic Laboratory. Here, she talks about her work within the laboratory and what inspires her.
Neurogenetics is a new field of scientific research that seeks to better understand the causes of brain and nerve disorders using advanced genetic testing – including genomic sequencing – in a laboratory to ‘read’ a patient’s genetic material. The Neurogenetics Team carries out diagnostic tests for patients with disorders ranging from Muscular Dystrophy to epilepsy.
The team of six scientists is close knit; Kelly is the newest team member. She explained: ‘We receive a referral with a patient’s details, symptoms and family history. We then arrange for the lab to extract the DNA from their sample and, depending on what disorder we are looking for, test for changes in the DNA that could be causing symptoms, or carry out whole genome sequencing to find genes that could be related.’
When the data come back from the lab, the team analyses the results and the variants – different forms of a gene – that may have been flagged up to work out if changes are disease-causing. A change of just one base – one letter in the DNA code – can have a dramatic impact.
When sufficient evidence has been gathered, the team reports back to the patient’s clinician. A diagnosis may mean a patient can get treatment that is tailored for their condition. ‘Once we know what changes are causing symptoms, we can also quickly test other family members,’ added Kelly. Predictive testing for late-onset disorders can be offered to family members over 18 years old. Referrals are not ‘just’ names and symptoms for Kelly.
By the time a patient reaches us, they clearly have been affected for a long time. Their notes may say that they have been tested for years and still have no idea what is happening to them or why they have these symptoms.
Although it’s sad to read about patient experiences, by picking through the possible variants, the team may be able to find a cause and a reason for an individual’s symptoms. ‘If we can find a name for what a patient is experiencing, they have a reason; it’s very rewarding,’ she said, and added: ‘And to be able to give a patient’s son or daughter a negative result is an amazing feeling. I know that I’ve had a huge impact on the life of someone that I will never meet.’
Some individuals, unfortunately, test positive for a disease: ‘These cases are heart-breaking. Some patients may only be 18 or 19 years old; they may be impacted by a disease that may not present for 30 years,’ she explained.
Kelly started work at Addenbrooke’s Hospital in the Haematopathology and oncology diagnostic service, having graduated in Neuroscience from Cardiff University. This was an entry level job and a way of getting her foot through the door in a hospital. She then worked her way up through the NHS pay bands. ‘I loved working in a diagnostic lab and doing something science-based that affected patients,’ she said.
After seeing an ad for a healthcare scientist job in the Neurogenetics Team, Kelly applied. By her own admission, she now works with a ‘lovely bunch’ of people: ‘They are all so clever and have great knowledge about the different disorders. They are also generous with their time, teaching me new things in a way that I understand.’
As a junior member of the team, Kelly produces the initial reports. The next rung on the career pathway is to gain clinical scientist registration. This is a three-year long qualification, based on a portfolio of work and proof of performance.
The Neurogenetics team sits within the Rare Disease section of the lab, along with teams dedicated to inherited cancer, endocrine disorders, paediatrics and cytogenetics. There is a wide range of job roles in the department, from receiving samples, genetic counselling for families undergoing tests to performing laboratory tests, running the lab and maintaining the equipment. For Kelly: ‘The lab is a whole ecosystem of people working to produce results. I am surrounded by so many people with niche interests.
I didn’t know any of these jobs existed when I was at school. I did A levels thinking I could only interact with patients as a doctor or nurse. This is a whole other world, especially working in a big Trust like CUH.
‘I am excited to come to work every day and I am often so distracted by an interesting case that I forget to go home. I have the healthcare career that I always wanted.’
And for Kelly, her work is deeply personal; her fiancée Kate’s mum was diagnosed with Huntington’s Disease (HD) by the team that Kelly now works in. ‘She was showing symptoms – muscle spasms, slurring words and changes in her behaviour and personality – for about 10 years before being diagnosed. HD is a progressive disease in which an abnormal protein builds up in the neurons so they can’t function and die. There is currently no cure,’ she said.
After genetic counselling, Kate and her two brothers were offered testing for HD. Although her older brother tested negative, Kate’s test came back positive. Her other brother chose not to be tested. Knowing the result doesn’t make the situation any better, but Kelly believes that knowledge is power.
Kelly and Kate are keen fundraisers for the Huntington’s Disease Association (HDA) and are currently in training for a ‘Tough Mudder’ event in Yorkshire along with three close friends. Kelly concluded: ‘I know that genomic testing will help families, but we won’t have an impact after their diagnosis. The HDA provides resources and support to help those families who are living with this disease.’