Lindsay: “The mainstreaming of genomics is massive. We’re on a journey and everyone needs to build on their genomics knowledge.”
Our Lead Genetic Counsellor on how our understanding of genomics and technology is revolutionising patient care.
Lindsay, Lead Genetic Counsellor for the GMSA, is GCRB registered and has been working in genetics for over 20 years. Her substantive position is based in the Northern Genetics Service (at Newcastle), where she is one of the Lead Genetic Counsellors and Deputy Clinical Lead.
People seem familiar with the term genetics. What do we mean when we talk about genomics?
Traditionally, clinical genetics was a diagnostic service for rare and inherited disease involving clinical assessment and where possible, genetic testing of one or two genes at a time to identify mutations and inform diagnosis to assist reproductive choices and appropriate surveillance. But, with advances in knowledge and technology, we’re now able to study all of a person’s genes (the genome) and look at their combined influence on a person’s health.
With these developments, work within clinical genetics and the wider NHS has changed a lot and continues to evolve. Genomics is being used increasingly as an all-encompassing term.
You mentioned that genetics has already changed a lot. Can you tell us more?
I started my career at The Christie NHS Foundation Trust as a Genetic Counsellor working in a cancer family history service. It was an evolving and relatively new profession and involved home visits to take a family history followed by assessment in clinic. Based on this I could coordinate cancer screening. Most genetic testing at this time was limited and mainly involved using linked markers to estimate the likelihood that someone was a carrier of a particular genetic variant. We used the risk calculations as a basis for conversations with patients about their care.
The identification of BRCA1 (for BReast CAncer gene) in 1994 had a huge impact in cancer genetics. After a long search, researchers identified BRCA1 and later BRCA2, as genes that impact an individual’s likelihood of developing breast and ovarian cancer. This was the start of being able to use genetics tests to offer a more accurate assessment. We were able to remove some of the ambiguity for patients and focus screening and risk reducing options on those with a genetic pre-disposition for the disease.
That sounds like an exciting time to work in genetics. What’s happened since?
A huge amount has happened since – starting with the Human Genome project sequencing the whole genome and followed by 100,000 genome project, which sequenced the genomes of patients affected by rare disorders and cancers.
The knowledge gained through these projects helped in revolutionising the way we use genetics in the NHS to improve outcomes for patients. Advancements in technology also mean that we can now sequence hundreds of thousands of fragments of DNA in parallel in an NHS environment.
This group of technologies, known as Next Generation Sequencing, include the whole genome sequencing (WGS) used in the 100,000 genome project and other technologies, such as panel testing, which allows the testing of multiple genes at the same time. Many more genes have been identified and knowledge of their impact and associated risks has increased.
“For patients with a genetic condition, this means that we are more likely to be able to diagnose them and provide the most appropriate support and care. We continue to work with the wider family to offer testing, screening and preventative measures.”
Why should people care about genomics?
Everyone in a clinical role is the NHS should be thinking about genomics. Genetic tests are already available to professionals (National Genomic Testing Directory) and form an important part of diagnosis in many different conditions.
Clinical teams are working closely together, with support from the North East and Yorkshire Genomic Medicine Service (GMS) to embed genomics into everyday healthcare. One way that I’ve been able to support this work is by helping on the project to pilot Familial hypercholesterolemia (FH) testing in pharmacies.
“The mainstreaming of genomics is massive. We’re on a journey. It will take time to embed genomics into every aspect of the NHS and we need to be agile to adapt as our knowledge continues to evolve. Genomics is already improving outcomes for patients and in time we will realise greater efficiencies and benefits at a system level.”
What do people need to do to help make genomics part of mainstream care?
Colleagues across the NHS are already becoming increasingly proficient in using a family history to identify when a condition may be genetic, ordering genomic tests, and discussing the outcomes of tests with patients and their families. It is important to recognise that this is a big change and a time commitment.
We are also seeing new roles come on track, including Genomic Practitioners, who work as part of the clinical team with a focus on the consent and information gathering relating to genomic tests.
In the future, I think that clinical genetics will continue to provide specialist support to colleagues across the clinical services and manage complex cases.