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Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

  • Karen Paik (a1), Matthew A. Lines (a2), Pranesh Chakraborty (a2) (a3), Sara D. Khangura (a4), Maureen Latocki (a5), Walla Al-Hertani (a6), Catherine Brunel-Guitton (a7), Aneal Khan (a8) (a9), Blaine Penny (a5), Cheryl Rockman-Greenberg (a10) (a11) (a12), C. Anthony Rupar (a13) (a14), Neal Sondheimer (a15), Mark Tarnopolsky (a16), Kylie Tingley (a4), Doug Coyle (a4), Sarah Dyack (a17) (a18), Annette Feigenbaum (a15), Michael T. Geraghty (a2) (a3), Jane Gillis (a19), Clara D. M. van Karnebeek (a20) (a19), Jonathan B. Kronick (a15), Julian Little (a4), Murray Potter (a21), Komudi Siriwardena (a22), Rebecca Sparkes (a8) (a9), Lesley A. Turner (a23), Kumanan Wilson (a4) (a24), Daniela Buhas (a25), Beth K. Potter (a4) and in collaboration with the Canadian Inherited Metabolic Diseases Research Network (a1) (a2) (a3) (a4) (a5) (a6) (a7) (a8) (a9) (a10) (a11) (a12) (a13) (a14) (a15) (a16) (a17) (a18) (a20) (a19) (a21) (a22) (a23) (a24) (a25)...

Abstract:

Background:

An improved understanding of diagnostic and treatment practices for patients with rare primary mitochondrial disorders can support benchmarking against guidelines and establish priorities for evaluative research. We aimed to describe physician care for patients with mitochondrial diseases in Canada, including variation in care.

Methods:

We conducted a cross-sectional survey of Canadian physicians involved in the diagnosis and/or ongoing care of patients with mitochondrial diseases. We used snowball sampling to identify potentially eligible participants, who were contacted by mail up to five times and invited to complete a questionnaire by mail or internet. The questionnaire addressed: personal experience in providing care for mitochondrial disorders; diagnostic and treatment practices; challenges in accessing tests or treatments; and views regarding research priorities.

Results:

We received 58 survey responses (52% response rate). Most respondents (83%) reported spending 20% or less of their clinical practice time caring for patients with mitochondrial disorders. We identified important variation in diagnostic care, although assessments frequently reported as diagnostically helpful (e.g., brain magnetic resonance imaging, MRI/MR spectroscopy) were also recommended in published guidelines. Approximately half (49%) of participants would recommend “mitochondrial cocktails” for all or most patients, but we identified variation in responses regarding specific vitamins and cofactors. A majority of physicians recommended studies on the development of effective therapies as the top research priority.

Conclusions:

While Canadian physicians’ views about diagnostic care and disease management are aligned with published recommendations, important variations in care reflect persistent areas of uncertainty and a need for empirical evidence to support and update standard protocols.

Les soins de santé prodigués au Canada à des individus atteints de troubles mitochondriaux : une enquête menée auprès de médecins. Contexte: Dans le cas de patients atteints de troubles mitochondriaux rares, il est permis de croire qu’une meilleure compréhension des pratiques en matière de diagnostic et de traitement peut contribuer, au moyen des lignes directrices, à l’étalonnage et à l’établissement de priorités en ce qui regarde la recherche évaluative. Notre intention a été de décrire les soins prodigués au Canada par des médecins, notamment leur variabilité, dans le cas de ces patients. Méthodes: Pour ce faire, nous avons effectué une enquête transversale auprès de médecins canadiens qui posent des diagnostics de troubles mitochondriaux et qui prodiguent des soins continus aux patients qui en sont atteints. À cet effet, nous avons fait appel à la méthode d’enquête dite « en boule de neige » (snowball sampling) afin d’identifier des participants possiblement admissibles. Ces derniers ont été ensuite contactés par la poste, et ce, à cinq reprises au maximum. Ils ont été invités à remplir un questionnaire et à le retourner par la poste ou en ligne. Ce questionnaire abordait les aspects suivants : leur expérience personnelle à titre de prestataire de soins ; leurs pratiques en matière de diagnostic et de traitement ; les défis se présentant à eux au moment d’avoir accès à des tests ou à des traitements ; et finalement leurs points de vue en ce qui regarde les priorités de la recherche. Résultats: Dans le cadre de cette enquête, nous avons reçu 58 réponses, ce qui représente un taux de 52 %. Une majorité de répondants (83 %) ont indiqué allouer 20 % ou moins de leur temps de pratique clinique aux soins de patients atteints de ces troubles. Nous avons également noté d’importantes variations concernant les soins et les diagnostics, et ce, même si les outils d’évaluation fréquemment considérés utiles sur le plan diagnostic (p. ex. : des IRM du cerveau/la spectroscopie par RM) étaient également recommandés dans des lignes directrices déjà publiées. Environ la moitié de nos répondants (49 %) recommanderaient volontiers un « cocktail » de vitamines pour tous leurs patients ou la plupart d’entre eux. Quand il est question de vitamines spécifiques et de cofacteurs, nous avons cependant identifié une variation dans leurs réponses. Interrogés quant à la priorité numéro un en matière de recherche, une majorité de répondants a dit recommander la poursuite d’études portant sur la mise sur pied de traitements thérapeutiques efficaces. Conclusions: Bien que les points de vue de ces médecins canadiens en ce qui regarde les diagnostics et la prise en charge des troubles mitochondriaux soient en phase avec des recommandations publiées, d’importantes variations reflètent la persistance d’aspects incertains ainsi qu’un besoin de données empiriques afin de renforcer et de mettre à jour les protocoles de rééférence.

Copyright

Corresponding author

Correspondence to: Beth K. Potter, School of Epidemiology and Public Health, Faculty of Medicine, University of Ottawa, 600 Peter Morand Cr, Ottawa, ON K1G 5Z3, Canada. Email: bpotter@uottawa.ca

References

Hide All
1.Vafai, SB, Mootha, VK. Mitochondrial disorders as windows into an ancient organelle. Nature. 2012;491(7424):374–83.
2.Chinnery, PF. Mitochondrial disorders overview. GeneReviews; updated 2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1224/.
3.Koopman, WJH, Willems, PHGM, Smeitink, JAMM. Monogenic mitochondrial disorders. N Engl J Med. 2012;366(12):1132–41.
4.Alston, CL, Rocha, MC, Lax, NZ, Turnbull, DM, Taylor, RW. The genetics and pathology of mitochondrial disease. J Pathol. 2017;241(2):236–50.
5.Zeviani, M, Di Donato, S. Mitochondrial disorders. Brain. 2004;127(10):2153–72.
6.Pfeffer, G, Majamaa, K, Turnbull, DM, Thorburn, D, Chinnery, PF. Treatment for mitochondrial disorders. Cochrane Database of Systematic Reviews. 2012;18(4):CD004426.
7.Skladal, D, Halliday, J, Thorburn, DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain. 2003;126(8):1905–12.
8.Bernier, FP, Boneh, A, Dennett, X, Chow, CW, Cleary, MA, Thorburn, DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59(9):1406–11.
9.Gorman, GS, Schaefer, AM, Ng, Y, et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77(5):753–9.
10.Parikh, S, Goldstein, A, Koenig, MK, et al. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014;14(1):2633.
11.Parikh, S, Goldstein, A, Koenig, MK, et al. Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion. 2013;13(6):681–7.
12.Parikh, S, Goldstein, A, Koenig, MK, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17(9):689701.
13.Parikh, S, Goldstein, A, Karaa, A, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017;19(12):118.
14.Sadler, GR, Lee, HC, Lim, RSH, Fullerton, J. Recruitment of hard-to-reach population subgroups via adaptations of the snowball sampling strategy. Nurs Heal Sci. 2010;12(3):369–74.
15.VanGeest, JB, Johnson, TP, Welch, VL. Methodologies for improving response rates in surveys of physicians: a systematic review. Eval Heal Prof. 2007;30(4):303–21.
16.Hocking, JS, Lim, MSC, Read, T, Hellard, M. Postal surveys of physicians gave superior response rates over telephone interviews in a randomized trial. J Clin Epidemiol. 2006;59(5):521–4.
17.Dillman, DA, Smyth, JD, Christian, LM. Internet, mail, and mixed-mode surveys: the tailored design method. Hoboken, NJ: John Wiley & Sons Ltd; 2009.
18.Harris, PA, Taylor, R, Thielke, R, Payne, J, Gonzalez, N, Conde, JG. Research electronic data capture (REDCap) - a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377–81.
19.College of Family Physicians of Canada. Canadian Medical Association, Royal College of Physicians and Surgeons of Canada. National Physician Survey. 2017. Ottawa, Ontario, Canada.
20.Potter, BK, Little, J, Chakraborty, P, et al. Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. J Inherit Metab Dis. 2012;35(1):115–23.
21.Haas, RH, Parikh, S, Falk, MJ, et al. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab. 2008;94(1):1637.
22.Cohen, JF, Korevaar, DA, Altman, DG, et al. STARD 2015 guidelines for reporting diagnostic accuracy studies: explanation and elaboration. BMJ Open. 2016;6(11):117.
23.Whiting, PF, Rutjes, AWS, Westwood, ME, et al. QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann Intern Med. 2011;155:529–36.
24.ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015;17(6):505–7.
25.Grier, J, Hirano, M, Karaa, A, Shepard, E, Thompson, JLP. Diagnostic odyssey of patients with mitochondrial disease. Neurol Genet. 2018;4(2):e230.
26.Anderson, M, Elliott, EJ, Zurynski, YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. 2013;8(1):1.
27.Canadian Association of Pediatric Health Centres (CAPHC). Catalogue of Canadian Complex Car Programs and/or Organizations Providing Services to CYMC. CAPHC. Available at: https://ken.childrenshealthcarecanada.ca/xwiki/bin/view/Main/WebHome; accessed April 2019, last updated 2017.
28.Koene, S, Wortmann, SB, de Vries, MC, et al. Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents? Mitochondrion. 2013;13(1):1524.

Keywords

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

  • Karen Paik (a1), Matthew A. Lines (a2), Pranesh Chakraborty (a2) (a3), Sara D. Khangura (a4), Maureen Latocki (a5), Walla Al-Hertani (a6), Catherine Brunel-Guitton (a7), Aneal Khan (a8) (a9), Blaine Penny (a5), Cheryl Rockman-Greenberg (a10) (a11) (a12), C. Anthony Rupar (a13) (a14), Neal Sondheimer (a15), Mark Tarnopolsky (a16), Kylie Tingley (a4), Doug Coyle (a4), Sarah Dyack (a17) (a18), Annette Feigenbaum (a15), Michael T. Geraghty (a2) (a3), Jane Gillis (a19), Clara D. M. van Karnebeek (a20) (a19), Jonathan B. Kronick (a15), Julian Little (a4), Murray Potter (a21), Komudi Siriwardena (a22), Rebecca Sparkes (a8) (a9), Lesley A. Turner (a23), Kumanan Wilson (a4) (a24), Daniela Buhas (a25), Beth K. Potter (a4) and in collaboration with the Canadian Inherited Metabolic Diseases Research Network (a1) (a2) (a3) (a4) (a5) (a6) (a7) (a8) (a9) (a10) (a11) (a12) (a13) (a14) (a15) (a16) (a17) (a18) (a20) (a19) (a21) (a22) (a23) (a24) (a25)...

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