Risk factors

FH Summit: How health policy and advocacy can help foster best-practice implementation

Tuesday, 23 Nov 2021

A recent FH Australia Network virtual summit was held to initiate processes for the implementation of FH clinical recommendations that the network had recently published;1 the recommendations were developed with the input of contributors from diverse disciplines, and were endorsed by major national and international organisations.

Moderator Professor Watts (Winthrop Professor of Cardiometabolic Medicine in the University of Western Australia and current chair of the Familial Hypercholesterolaemia Australasian Network) defined implementation science as “the modality for employing and utilising evidence to actually change practice in a healthcare setting”, a practice which, as he noted “is a team sport.”  This team extends to specialists in health policy and advocacy, and experts in these fields provided their perspectives on what they can do to help foster practice change.

A health policy perspective: spotlight on screening

Dr Kristen Nowak, outlined a number of her areas of focus in her role as Director of Office of Population Health Genomics, Public and Aboriginal Health Division of the Western Australian Department of Health. These areas included screening, health genomics and precision health – all highly relevant for FH.

Dr Nowak described the Sustainable Health Review for Western Australia, which she explained addressed “major public health issues and using precision medicine and public health, particularly the technology of genomics”. The review resulted in the development of The Precision Health Council tasked with prioritising projects, such as universal screening of children followed by child-parent cascade testing for FH.

“We are really fortunate in terms of FH in that there is an abundance of strong evidence for the benefits of being able to detect individuals and family members with the condition and to be able to intervene early,” said Dr Nowak.

When it comes to guiding the next steps, Dr Nowak explained, “It can be really useful to look overseas…to see whether there are programmes or policies that can be translated to the Australian context”. Dr Nowak gave a brief overview of some potential screening methodologies for FH, such as the research project funded by the Medical Research Future Funds which aims to screen 10,000 healthy young adults for tier 1 genetic conditions – including FH – and the 2021 Genomics Health Futures Mission, which put out a call for research into the use of genomics in newborn bloodspot screening.

FH can be an ‘invisible disease’

Ms Magdalena Daccord, Chief Executive of FH Europe, the European FH patient network, discussed why there needs to be improvements in the detection, prevention and management in FH.

FH Europe is a network of 26 patient organisations across 25 countries. The guiding purpose is to “Improve Europe-wide awareness, understanding and access to diagnosis and treatment of inherited lipid conditions so that all those impacted receive optimal treatment and support, resulting in longer, healthier lives”.

Ms Daccord described the vision of FH Europe: “To achieve early recognition of life threatening dyslipidaemia for all impacted people in the future with:

  • Increased focus on prevention and early detection
  • More personalised care
  • Common use of digital healthcare and online communication
  • Patients are relied on to provide expertise, support and consultation to drive innovation

The overarching goal is to prevent consequences such as heart attacks and death from inherited dyslipidaemias, she explained.

Ms Daccord described two groups of people with FH: ‘patients,’ who are those who have been diagnosed (around 10% of the total FH population), and ‘citizens,’ who are those not aware of the condition, have not been tested and have not been diagnosed (90% of the total FH population). Ms Daccord, outlined the needs of these two groups (below).

The challenges when trying to improve diagnosis include “the fact that it is an invisible disease, general unawareness leading to lack of engagement from key stakeholders, which contributes to insufficient funding, a lack of systematic solutions and a lack of leadership,” she said.

Needs according to FH diagnosis: ‘patients’ versus ‘citizens’

Patients (diagnosed with FH) Citizens (with FH but not diagnosed)
Correct diagnosis

Health literacy

Access to care

Personalised/optimal treatment

Family support

Awareness of FH

Health literacy

Change of narrative around cholesterol, CVD and health

System offered solutions

Ms Daccord shared examples of work done by FH Europe that illustrated how advocacy can change the narrative around cholesterol, improve knowledge and foster systematic solutions (see below).

Examples of advocacy from FH Europe

FH Awareness Day

25 short movies in collaboration with FH ambassadors, clinicians and patients explaining general topics around FH through the stories of patients.

FH webinar

Very high-level webinar promoting the topic of FH as an evidence-based model of innovation – presented by esteemed speakers in the FH clinical world.

Social media frame

To allow patients to update their profile picture to increase awareness of FH.

Developing Expert Patient Advocates – Ambassador program

People who can talk about living with FH but who can also advocate for FH services with their governments and health ministers

#ManyFacesOneHeart campaign

A campaign that can be used along with international awareness days such as Rare Disease Day and International Women’s Day.

Health literacy projects

Leveraging the fact that technology allows more people to be reached than ever before with information in multiple languages.

Find My Lipid Clinic portal

To allow anyone to seek help from a specialist near them as well as local support groups.

Expansion of international advocacy collaboration

To spread the word about FH but also to join efforts in any related projects/campaigns on a European level.


Living with FH: a consumer perspective

Two speakers with FH provided a consumer perspective: Mr Luke Elias, Director of Operations and Engagement for Northern NSW who is living with FH, and Mr Sam Craig, a survivor of heart damage due to untreated high cholesterol who helped develop a database tracing heart disease in families in New Zealand.

Mr Elias explained that he, his wife, and their two children are all living with  FH. He brings his perspective “as a consumer, a patient and a clinician,” thanks to his experience as a physiotherapist. He highlighted three key components of care every time a patient or family sees a clinician:

  1. Meet patient expectations: which can be hard to know unless you ask
  2. Pass on benefits of expertise and experience: no matter what that experience is, patient’s benefit from you sharing it
  3. Ensure patients and their families feel validated: make sure they feel heard and that they are not alone

Mr Craig presented his family tree, which was scattered with cases of inherited heart disease, familial spherocytosis and disabilities. While the full gamut of conditions was overwhelming, Mr Craig felt the issue of untreated FH was “a problem I could understand.” He said that the need for genetic population screening was an “absolute no-brainer”.

“With common understanding of a shared problem, a stated objective and a managed project plan, good communication and strong teams, implementation can be a great experience,” said Mr Craig. He ended by saying he is an “advocate for population screening [which is] possible if we use electronic interfaces and new software for pathology, and for population screening that may well be appropriate.”


CVD=cardiovascular disease; ERIC=Expert Recommendations for Implementing Change; LDL-C=low density lipoprotein cholesterol.


  1. Watts GF et al. Heart Lung Circ 2021;30:324-349.


This article was written by the limbic in collaboration with the FH Australia Network.

Thank you to Amgen Australia Pty Ltd  for providing the non-restrictive educational sponsorship that made it possible.


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