What does a Clinical Scientist do?

Clinical Scientists collect, analyse and interpret scientific data to make expert decisions, helping patients to receive the best possible care for them. In this blog, Nicola Marchbank explains her role as a genomics clinical scientist.

My role as a clinical scientist

I am a genomics clinical scientist at the North West Genomic Laboratory Hub.

This hub is part of a network that provides genetic and genomic testing for NHS patients across England.

The team I work in is responsible for testing for genetic conditions that affect metabolism and the immune system. The main aspects of my role include triaging patient referrals, scheduling genetic tests, analysing and interpreting results, and writing reports to clinicians.

In addition to this, I also work with Genomics England on the Generation Study, analysing and interpreting genomic data. In this study, newborns are screened for over 500 genes associated with around 200 rare, treatable, childhood genetic conditions. It is looking to identify babies who may be at risk of these conditions before symptoms appear, creating opportunities for earlier intervention and better outcomes for families.

What does my day look like ?

A big part of both my NHS and Generation Study roles is assessing whether the genetic changes a person has are causing their condition. This is important, because most genetic changes don’t actually impact our health, and so careful interpretation is needed.

I use lots of resources to do this, for example, searching databases of genomic variants (genetic changes), identifying experimental evidence from published research, and using computational tools to predict the consequences of changes in DNA.

Additionally, I also chair metabolic genomics meetings attended by scientists, clinicians and genetic counsellors. Here we evaluate patient clinical data alongside genetic and non-genetic test results to reach a reporting decision.

I am also jointly responsible for targeted testing in family members of patients who have been diagnosed with a genetic condition. This is to determine their risk of developing the same condition, or their risk of having a child who inherits it.

Becoming a registered clinical scientist

I graduated from the University of York with a Bachelor of Science in Biochemistry. Keen to pursue my interest in the molecular genetics of human disease, I joined a research group at St. James’ University Hospital, Leeds.

Our work focussed on identifying genes responsible for inherited visual disorders, which meant I developed close links with ophthalmologists during my PhD. It became clear to me that strong partnerships between clinicians and scientists were leading to improved diagnostic outcomes for patients with inherited diseases.

It was this that inspired me to become a healthcare scientist, and I accepted a service development post at the National Genetics Reference Laboratory in Manchester.

Over the next few years, I designed and evaluated a new genetic testing service for families with very rare inherited conditions that were not provided for by NHS genetics laboratories. I was very pleased this service was adopted into routine practice.

I went on to achieve my clinical scientist HCPC registration, and have worked in several genomic specialties, metabolic being the most interesting to me. Then early in 2026, I was assigned to Genomics England to work on the Generation Study.

Being a genomic clinical scientist is an incredibly varied and rewarding role; for information on how to become a clinical scientist in the NHS, take a look at the Scientist Training Programme.

The impact of my work on patients

A patient’s genetic results can lead to a clinical diagnosis being made sooner, and may influence the treatment a patient receives. Some results may even help to guide reproductive choices for couples.

By ensuring the genetic test reports I write are accurate, follow best practice, and reach the patient’s clinical team within the turnaround time, I help to provide these diagnoses to patients.

This is especially true in the Generation Study, where my work directly contributes to identifying newborn participants at risk of a rare childhood-onset genetic condition, before they even develop symptoms.

What keeps me passionate?

 I love that my day-to-day work is so varied with many opportunities to learn new things. I am passionate about achieving a high quality of service delivery for our patients and service users.

For each patient tested in our laboratory, the pathway from receiving the sample to issuing a report involves multiple staff, processes, and data records. I am proud to be part of an organisation that continually evaluates how we do things to see if any improvements or efficiencies can be made.

As a member of the laboratory quality team for over 12 years, I gained valuable skills and experience in auditing and managing errors and incidents. Being part of this team has shown me just how much work goes into maintaining quality standards. I feel very satisfied when we receive positive feedback from patients, clinicians and other service users.

What’s coming up next for me?

Genomics is a rapidly evolving field. I have witnessed enormous progression within the NHS genetic testing network during my career as a clinical scientist.  I am committed to furthering my knowledge of the genes and conditions we test for, and keeping abreast of new decision support tools for variant analysis.

As a team we strive to reduce our reporting times and provide the best experience we can for our service users. I will continue to contribute to service improvements and evaluate new ways of doing things where opportunities arise.