Broadening access to inherited lipid risk-testing: why this matters now

Innovations in genomics offer significant opportunities to better detect genetic risk factors for cardiovascular disease – and our region is well placed to lead the agenda, argues Theun van Veen, Project Manager in our cardiovascular disease team.

Improving cardiovascular disease prevention increasingly depends on how well we identify and understand inherited risk. The growing focus on familial hypercholesterolaemia (FH) and lipoprotein(a) [Lp(a)] reflects this, but it also highlights a bigger challenge: how the NHS moves from specialist-led identification to more accessible, joined-up approaches across the system.

Having worked in this space for several years, I’ve seen how important early identification can be. When people at higher risk are identified sooner, there is a real opportunity to reduce that risk through appropriate treatment and support.

One example brings this to life. Following the sudden death of his brother, Simon Clarke and several of his relatives were found to have an inherited condition causing very high cholesterol. Their diagnosis was made possible through the FH service in Cheshire and Merseyside, which takes a proactive, family-centred approach. This is exactly what prevention looks like in practice.

Encouragingly, improvement work is happening across the system as is evident from Simon’s story. In some areas, progress is being driven by individuals and teams with a strong personal or clinical interest in inherited lipid disorders, working to enhance identification and care within existing pathways. In others, more coordinated, system-led approaches are beginning to take shape, bringing together primary care, specialist services and genomics to better understand current pathways and improve access.

While pathways for FH are relatively well established, they can still be limited by capacity, awareness and variation in access. Earlier and more consistent identification could make a significant difference. Not just for individuals, but in supporting a more preventative, population-level approach.

A formal diagnosis plays an important role. It enables more tailored treatment and, crucially, allows for cascade testing of relatives. This creates a powerful opportunity to find and support people who might otherwise remain undiagnosed, helping to reduce the risk of heart attacks and strokes, even at a younger age.

At the same time, the testing landscape is evolving. Commercial tests for FH and Lp(a) are becoming more widely available, giving people new ways to understand their cardiovascular risk. But this also brings new challenges. Primary care is often the first point of contact when patients present with results, raising questions about interpretation, follow-up and consistency of care within pathways that are already under pressure.

There are also important considerations around equity. Private testing can offer faster access for some, while others remain reliant on NHS services, where testing is not always routinely available. Without a more coordinated approach, there is a risk that access to testing becomes more unequal over time.

Even without a confirmed genetic diagnosis, people with raised lipid levels still benefit from treatment optimisation and ongoing care. The challenge is ensuring systems can deliver this effectively, without adding unnecessary complexity for clinicians or patients.

To support this conversation, a paper has been developed exploring how approaches to inherited lipid risk could evolve, and what a more joined-up, pathway-driven model might look like. Strengthening these approaches will be important in improving access, supporting clinicians and ultimately preventing cardiovascular events.

Read Theun van Veen's paper Genetic hypercholesterolaemia and lipoprotein(a) – a call to better assess cardiovascular risk