High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

Orphanet Journal of Rare Diseases

Tarekegn Geberhiwot³  Timothy Barrett⁴  Kay Parkinson¹  Qiaoying Wang²  Zexin Huang²  Oliver Holtkemper⁵  Fabian Davison²  Luca Giacovazzi²  Stephanie Van Groenendael² 

[1] Alstrom UK, London, UK;London School of Economics, London, UK;Department of Endocrinology, University Hospital of Birmingham, London, UK;Institute of Cancer and Genomic Sciences, University of Birmingham, London, UK;Oliver Holtkemper, London, UK

关键词: National service;    Multidisciplinary clinics;    Rare disease;    Alstrom syndrome;   

Others  :  1234882
DOI  :  10.1186/s13023-015-0366-y

 received in 2015-09-24, accepted in 2015-11-15,  发布年份 2015

【 摘 要 】

Background

Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragmented care. We analysed the national service for an ultra-rare disease, Alstrom syndrome, and compared the outcome and cost of the service to the standard care.

Methods

Between the 9th and 26th of March 2014 we undertook a cross-sectional study of the UK Alstrom syndrome patients and their carers. We developed a semi-structured questionnaire to assess our rare patient need, quality of care and costs incurred to patients and their careers. In the UK all Alstrom syndrome patients are seen in two centres, based in Birmingham, and we systematically evaluated the national service and compared the quality and cost of care with patients’ previous standard of care.

Results

One quarter of genetically confirmed Alstrom syndrome UK patients were enrolled in this study. Patients that have access to a highly specialised clinical service reported that their care is well organised, personalised, holistic, and that they have a say in their care. All patients reported high level of satisfaction in their care. Patient treatment compliance and clinic attendance was better in multidisciplinary clinic than the usual standard of NHS care. Following a variable costing approach based on personnel and consumables’ cost, our valuation of the clinics was just under £700/patient/annum compared to the standard care of £960/patient/annum. Real savings, however, came in terms of patients’ quality of life. Furthermore there was found to have been a significant reduction in frequency of clinic visits and ordering of investigations since the establishment of the national service.

Conclusions

Our study has shown that organised, multidisciplinary “one stop” clinics are patient centred and individually tailored to the patient need with a better outcome and comparable cost compared with the current standard of care for rare disease. Our proposed care model can be adapted to several other rare and ultra-rare diseases.

【 授权许可】

   
2015 Van Groenendael et al.

【 图 表 】

Fig. 1.

Fig. 2.

【 参考文献 】

• [1]Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB et al.. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005; 165:675-83.
• [2]Znidar I, Collin-Histed T, Niemeyer P, Parkkinen J, Lauridsen AJ, Zarina S et al.. The European Gaucher Alliance: a survey of member patient organisations’ activities, healthcare environments and concerns. Orphanet J Rare Dis. 2014; 9:134. BioMed Central Full Text
• [3]Patient.co.uk. Alström Syndrome. Accessed 03 28, 2014 from:. http://www. alstrom.org.uk/ webcite
• [4]Irvine A, Drew P, Sainsbury R. Mode effects in qualitative interviews: a comparison of semi-structured face-to-face and telephone interviews using conversation analysis. Research Works, 2010–03, University of York, Heslington, York, YO10 5DD, UK 2010.
• [5]Kendall L. The conduct of qualitative interivew: Research questions, methodological issues, and researching online. In: Handbook of research on new literacies. Coiro J, Knobel M, Lankshear C, Leu D, editors. Lawrence Erlbaum Associates, New York; 2008: p.133-149.
• [6]Lee D. Survey Research: Reliability and Validity. Libr Adm Manag. 1996; 18(4):211.
• [7]Fowler FJ. Improving Survey Questions - Design and Evaluation. Applied Social Res Methods Series. 2009; 38:7-24.
• [8]National Health Service. 2014/15 National Tariff Payment System:. https://www. gov.uk/government/uploads/system/uploads/attachment_data/file/300547/2014-15_National_Tariff_Payment_System_-Revised_26_Feb_14.pdf webcite
• [9]Grosse SD, Schechter MS, Kulkarni R. Models of comprehensive multidisciplinary care for individuals in the United States with genetic disorders. Am Acad Pediatrics. 2009; 123(1):407-12.
• [10]Wen J, Schulman KA. Can team-based care improve patient satisfaction? A systematic review of randomized controlled trials. PLoS ONE. 2014; 9(7):e100603.
• [11]Veras RP, Caldas CP, Motta LB, Lima KC, Siqueira RC, Rodrigues RT et al.. Integration and continuity of Care in health care network models for frail older adults. Rev Saude Publica. 2014; 48(2):357-65.
• [12]Marple BF, Fornadley JA, Patel AA, Fineman SM, Fromer L, Krouse JH et al.. Keys to successful management of patients with allergic rhinitis: focus on patient confidence, compliance, and satisfaction. Otolaryngol Head Neck Surg. 2007; 136(6 Suppl):S107-24.
• [13]Lovell MR, Luckett T, Boyle FM, Phillips J, Agar M, Davidson PM. Patient education, coaching, and self-management for cancer pain. J Clin Oncol. 2014; 32(16):1712-20.
• [14]McGowan CE, Monis A, Bacon BR, Mallolas J, Goncales FL et al.. A Global View of Hepatitis C: Physician Knowledge, Opinions,and Perceived Barriers to Care. Hepatology. 2013; 57(4):1325-1332.
• [15]Nancarrow S, Bradbury J, Avila C. Factors associated with non-attendance in a general practice super clinic population in regional Australia: A retrospective cohort study. Australas Med J. 2014; 7(8):323-33.
• [16]Edwards NC, Moody WE, Yuan M, Warfield AT, Cramb R, Paisey RB et al.. Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. Orphanet J Rare Dis. 2015; 10:83. BioMed Central Full Text
• [17]Paisey RB, Smith J, Carey C, Barrett T, Campbell F, Maffei P et al.. Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome. J Clin Endocrinol Metab. 2015; 100(8):1116-24.
• [18]Paisey RB, Geberhiwot T, Waterson M, Cramb R, Steeds R, Williams K et al.. Modification of severe insulin resistant diabetes in response to lifestyle changes in Alström syndrome. Eur J Med Genet. 2014; 57(2–3):71-5.
• [19]Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W et al.. EURO-WABB: an EU rare diseases registry for Wolfram syndrome. Alström syndrome and Bardet-Biedl syndrome. BMC Pediatr. 2013; 13:130. BioMed Central Full Text