“Facilitating genetic and genomic literacy in the context of familial hypercholesterolemia for the non-expert health care professional”.

Activity: Talk or presentationOral presentation


To demonstrate how a post qualifying genomic counselling module supported healthcare professionals to acquire genetic and genomic knowledge, skills and attitudes within the clinical field of familial hypercholesterolemia.
Learning outcomes:
1. Outline the development and implementation of a genomic counselling course to upskill practitioners working or preparing to work within the field of familial hypercholesterolemia
2. Describe how the challenges of integrating genetic and genomic principles into primary and secondary care settings for patients with familial hypercholesterolemia can be overcome through utilising Blooms taxonomy as a pedagogical framework
3. Identify the module evaluation strategy and present student feedback from the pilot module

Familial hypercholesterolemia (FH) is an inherited condition that increases the risk of cardio-vascular disease and premature death. FH is under-diagnosed despite NICE recommending genetic testing to confirm this diagnosis in individuals with relevant signs and symptoms. The NHS Long Term Plan aim is to improve identification of FH to 25% within 5 years by expanding access to genetic testing.
Healthcare professionals perceive they lack knowledge, skills and confidence to offer genomic counselling and testing as part of their clinical role. To overcome this deficit and prepare a group of professionals from primary and secondary care to incorporate genomics into their practice a short genomic counselling module was developed focussing on the needs of patients with FH.
A module entitled “Principles of genomic counselling and testing in familial hypercholesterolemia” was developed in partnership between Northumbria University and the Academic Health Science Network. Underpinned by Blooms taxonomy the course content and competency framework assessment were designed to mirror the patient pathway specific to FH. Expert clinicians including lipidologists, genetic counsellors, specialist pharmacists and FH nurse specialist were invited to deliver sessions related to their expertise. Delivery of the content was live via the virtual classroom. Tutor guided learning activities supplemented the live sessions to encourage deep learning. A key strategy in the design of the module was to support student experiential learning by providing supervised clinical experience to gain confidence achieve clinical competencies in genomic counselling skills.
Evaluation of the pilot module by survey and reflective accounts captured the initial impact and participants positive experiences of attending the module. Further evaluation of subsequent module delivery is planned by focus group interviews and written reflective diaries. It is envisaged that the impact of completing the module on meeting the NHS aims will be captured.
Period26 Apr 2022
Event titleRCN education forum virtual conference and exhibition
Event typeConference
Degree of RecognitionInternational