Sickle cell disease is the most common inherited blood disorder in the United Kingdom. Around 18,500 people live with the condition, and approximately 300 babies are born with sickle cell disease each year, making it the fastest growing inherited blood disorder in the UK. Less visible, but equally important, is the number of people who carry sickle cell trait, individuals who have the genetic change linked to the condition but do not have the condition itself. While the full range of lived experiences and potential symptoms in carriers is not completely understood, the reproductive implications are clear, and something that individuals and families should be aware of. Currently, 8,500 babies in England each year are born as carriers of the condition.

For many individuals, carrier status is identified shortly after birth through the newborn screening programme. However, what follows is often inconsistent. Results may be recorded but understanding is limited, follow up is rare, and the information is frequently lost as the individual moves through childhood and into adulthood. When carrier status later becomes clinically relevant, particularly during reproductive decision making, both patients and clinicians can find themselves without clear guidance.

The central question then was simple: How do we ensure that individuals identified as carriers of a sickle cell gene alteration are followed up, supported with accurate information and offered appropriate counselling at the points in life when it matters most? The Sickle Cell Disease Clinical Pathway Initiative (CPI) was developed to help clinicians address this gap, and provide a structured response to that question. The sickle cell CPI’s focus is not on the management of sickle cell disease itself, but on supporting healthcare professionals identify what skills they need to be able to offer consistent and sensitive care to people identified as carriers of a sickle cell gene alteration.

Why this matters

While there is little known regarding health implications of being a carrier of the sickle cell trait, there are implications that extend beyond the individual. It has significant relevance for reproductive counselling, family discussions, and understanding the chance of future children being born with sickle cell disease. Yet many people do not fully understand their carrier status or its relevance until they are already pregnant or seeking fertility advice.

At the same time, both healthcare professionals and patients report uncertainty: Where can testing be accessed outside of maternity services? Who should provide counselling, and when? How should results from abroad be interpreted? How should cultural and family dynamics be navigated sensitively?

This CPI responds to these challenges by offering a framework for professional development for clinicians. It supports them to develop the knowledge, skills and confidence they need to have confident conversations to improve continuity between services and to reduce variation in how carrier status is managed.

Cultural relevance and continuity

Genetic information is not always understood or acted upon in the same way across different communities. In many families, decisions around testing and reproduction involve wider family structures, beliefs, and shared decision making. There can be stigma associated with being a carrier or having the condition, meaning status may not be openly discussed. Research from the Sickle Cell Society has demonstrated the barriers individuals may face in accessing screening results and highlighted the importance of communication in delivering results.

Cultural sensitivity, alongside its practical considerations and guidance on how best to support individuals in these situations, is reflected throughout this work. It is embedded within the sickle cell disease CPI as a core principle. The framework prompts healthcare professionals to recognise these dynamics and to support individuals in a way that is respectful, inclusive and relevant.

The CPI also places strong emphasis on continuity. Carrier status identified at birth should not be forgotten. The CPI supports clinicians to develop the knowledge and skills to take a life course approach, ensuring that information remains accessible and meaningful as individuals transition into adulthood and begin making informed reproductive choices.

What the CPI is

The Clinical Pathway Initiative (CPI) was conceived by NHS England’s Genomics Education Programme. Broadly, a CPI pathway is a competency framework which is mapped to education and training needs within a clinical pathway that uses genetics or genomics to inform patient care. The development of the sickle cell disease pathway sits under NHS England’s Sickle Cell and Thalassaemia Improvement Programme within the National Healthcare Inequalities Improvement Programme.

The Sickle Cell Disease CPI identifies the essential competencies needed to deliver good support at different stages, including pre-conception care, antenatal screening, post-test counselling, and newborn screening follow up. It does not represent guidance and does not dictate how services should be delivered. Instead, it provides a consistent framework that helps healthcare professionals understand and develop the competencies relevant to their role in order to support carriers of sickle disease, recognise when further support is needed and know where to signpost.

CPIs are workforce agnostic. So, the Sickle Cell Disease CPI can be used by general practitioners, midwives, nurses, community teams and specialists. Wherever a patient presents, the aim is that they receive consistent information and support.

Looking ahead

The Sickle Cell Disease CPI focuses on three areas where gaps are most evident: pre-conception screening, antenatal screening, and newborn screening follow up. However, the model is transferable. The same approach can be, and has been, applied to other conditions facing similar challenges in education and counselling

As specialist services increasingly move closer to primary and community care, resources like the CPI become even more important. They provide a shared framework that supports consistent care across settings, without relying on specialist knowledge alone.

From identification to empowerment

The CPI is ultimately about turning understanding into confidence. For patients, it ensures that being labelled a carrier is not the end of a process but the beginning of informed support.

By providing healthcare professionals with a clear and flexible framework, this CPI helps ensure that individuals with sickle cell trait are supported in understanding their status and so make informed decisions throughout their lives. Importantly, the CPI is an educational resource and a practical framework that can also support the delivery of clear patient pathways for individuals identified as carriers.

This work represents a shift from fragmented conversations to structured continuity. It is a foundation supporting more equitable, informed and culturally sensitive conversations between healthcare professionals and service users.