Julie Goodfellow, Lead Nurse for the NEY GMS (recently retired), has led a project within the region to review equity of access to genomic testing for patients with Inherited Cardiac Conditions (ICCs).

What are Inherited Cardiac Conditions

Inherited Cardiac Conditions (ICCs) are cardiovascular conditions for which a genetic cause is confirmed or suspected, and includes families affected by sudden cardiac deaths. ICCs are often considered in three categories: heart muscle disease (cardiomyopathies), arrhythmia (channelopathies) and vasculopathies (aortopathies).  Most ICCs follow an autosomal dominant inheritance pattern, which means children of those with ICCs are at 50% risk of inheritance, with an associated risk of developing the condition themselves.


Why is genomic testing important for patients with ICCs?

Since the introduction of the National Genomic Test Directory for Rare and Inherited Disease, there has been an increasing move towards more mainstreamed genomic testing. Genomic testing in patients affected by ICCs may assist in their clinical management and can facilitate the screening of family members to identify those at increased risk of developing the condition.

However, anecdotal evidence from clinical professionals that mainstream genomic testing for ICCs in the NEY, suggested that testing was not equitable.

Developments in the North East and Yorkshire

The NEY GMS set up a project in June 2023 as part of its Equity of Access Programme to:

  • investigate levels of access to genomic testing for patients affected by ICCs, and see if eligible patients had equitable access to testing across the region, and
  • propose workable solutions to address identified inequities if found.

The project lead, Julie Goodfellow (who has many years working clinically with ICC patients and their families) set up a group of other experts in ICC, recruited from across the region, and co-ordinated efforts to review and map current patient pathways and ICC services.

The review confirmed that access to genomic testing is not equitable for all patients. Those areas with less testing activity were examined in more depth and this enabled the project team to propose workable solutions to address identified inequities. A survey of patient experience in accessing genomic medicine services further strengthened the evidence that intervention could help to improve services.

Improvements in Action – including the ICC Community of Practice

Valuable lessons have been learnt during this work and an enduring legacy is the new Community of Practice for ICC – established to provide peer support to relevant ICC professionals. With regular meetings and a Teams channel, members can share expertise and discuss relevant topics. This interactive forum is already proving a useful tool in helping to improve services for patients and in supporting the future development of standardised documentation for use in ICC clinics.

Key to the success of the project was the strength of the project team, led by clinical experts in ICC. This not only ensured that the project aims and objectives were directed appropriately, but also that findings were clinically relevant.

It also highlighted the value of collaboration between clinical experts and data analysts in helping to uncover subtle indicators of possible inequities, with recognition that a wide variety of data sources are necessary to create a full picture of the drivers for change.

To find out more or join the ICC Community of Practice, please contact [email protected]

Read more about the Genomic Network of Excellence (for Inherited and Acquired CVD)

Listen to Jack’s Story – Our Patient Podcast about genetic testing for Cardiomyopathy