Within the six pillars of support for those with rare diseases is a need for disease expert centres (aka- centres of excellence/expertise). The alliance has featured several articles about such centres for aHUS. It even visited four European centres in 2018 (reports of those visits can be seen starting with the visit to Paris
During the visits the alliance made a record of examples of how each Centre addressed EURORDIS’ list of attributes for determining expert centres (plus other attributes offered from research by Rare Disease UK and the aHUS alliance). Using those attributes, the alliance was able to compare and contrast those centres to understand better the roles of aHUS Expert Centres.
The result of that assessment is not an evaluation of the competence of the Centres, but an observation of the strength of focus exhibited by them on each of the attributes in the mix.
The table below gives the alliance’s opinion of the strength of focus derived from those observations. There is no priority in the order in which attributes are listed.
Using a scale of SF ,F ,f ,where SF is a stronger focus, F is expected focus and f where there is little or no focus evidence, the activities of each Centre are “scored” for comparison.
The overall results show aHUS expert centres vary in focus. The scope of each centre in terms of its geographic remit ( local/regional, national, international) and its specific role in the healthcare for that location varies. Such scope inevitably impacts on the number of direct patient beneficiaries.
Centres may have a hands on or shared/indirect responsiblity for patient treatment ; including different powers for prescription of drugs like eculizumab. They were found , however, to be influential in the drafting of national aHUS diagnostic and treatment protocols
Even though the level of direct patient contact varies it does not diminish an overall sense that their ultimate focus is on patients ,however remote the contact. This is seen particularly in their delivery of diagnostic services to speed up diagnosis and quicken patients’ advancement to treatment.
Centres also provide information to empower patients in their personal decision making about their treatment and to improve the quality of their lives.
However little evidence was found of expert centres focussing on the transition of young patients to adult care. Care transition of children to adult services is a universal problem in health care. Whilst the centres recognised it is an issue it was disappointing to find no pro-active solutions designed specifically for aHUS patients.
Generally the centres displayed a strong focus on genetic counselling to help clinicians and patients fully understand the implications of their genetic diagnosis, prognosis and susceptibilities. There was a reticence observed about the important topic that matters to many aHUS patients i.e. that of counselling on aHUS family planning decisions.
The centres also have different relationships with patient organisations from being fully embedded in the operation of the centre through to an increasing arms length and more distant approach.
It is the carrying out of aHUS Research, sometimes for decades, to increase an understanding of aHUS ,and complement , that has made these centres expert and stand out. That expertise is then built on through a strong focus on further research. Frequently by working in collaboration with other expert centres ,and, also by running a global patient registry or contributing to international patient registries run by others.
There is also an evident willingness to share this understanding among their peers and others in healthcare through networking, e.g. within ERKNet or their work being published in professional journals as well as them being invited to give authoritative and insightful talks at professional conferences. Some centres explicitly display these achievements as a kind of “ references letter” to give evidence of their expertise , which adds to further acknowledgement of their expert status.
Some attention is given to economic issues not only for patients but in the value added by their centres. Each has to not only to find funds for their work , but also to control the centre’s finance and budgets to remain sustainable.
The leader of each of the centres visited is a well recognised and eminent individual in the field of aHUS , but it is also important to them ,again for sustainability , that successive generations of researchers are developed within strong teams.
Better patient outcomes are achieved because of the work of these centres.
|Attribute||Centre A||Centre B||Centre C||Centre D|
|Patient orientated approach||SF||F||SF||F|
|Help & encouragement of patient knowledge and empowerment in care||SF||F||SF||f|
|Information resources provided to patients/families||F||SF||SF||f|
|Engages with patients and families||SF||F||SF||F|
|Cooperates with patient organisations||SF||F||F||f|
|Improves care atmosphere/collective morale of patient cohort||SF||F||F||f|
|Develops harmonisation of diagnosis and treatment protocols||SF||SF||SF||F|
|Better times to diagnosis||SF||SF||SF||F|
|Provides coordinated care through multi-disciplinary approach- areas integrated||SF||F||F||f|
|Ensures child to adult arrangements||F||f||f||f|
|Establishes care guidelines and recommendations||F||SF||SF||F|
|Undertakes Research and supports international aHUS Registries||SF||SF||SF||SF|
|Undertakes international and national networking||SF||SF||SF||SF|
|Presents at conferences||SF||SF||SF||SF|
|Displays record of published work/talks||f||f||SF||SF|
|Shares knowledge with other aHUS Expert Centres||F||F||SF||F|
|Awareness and knowledge dissemination to clinicians||F||F||F||F|
|Educates and trains health care professionals||F||F||SF||f|
|Interfaces with sufficient number of patients||F||SF||SF||SF|
|Provides Genetic Consultancy||SF||SF||SF||SF|
|Family planning /lifestyle with aHUS counselling||F||f||f||f|
|Improves quality of life||SF||F||SF||F|
|Patient /Family socio-economic cost/benefits||f||f||F||f|
|Teamworking not dependent on sole individual||SF||SF||SF||SF|
|Does economic assessment of centre activities||F||F||F||F|
|Improves patient outcomes||F||F||F||F|
The aHUS alliance appreciates the welcome and time given by the Centres and their willingness to share information to the aHUS patient community.