Beth K Potter


Affiliation: University of Ottawa
Country: Canada


  1. Karaceper M, Khangura S, Wilson K, Coyle D, Brownell M, Davies C, et al. Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. Orphanet J Rare Dis. 2019;14:70 pubmed publisher
    ..Rates of service use in this population gradually diminish after 24 months of age. ..
  2. Tingley K, Coyle D, Graham I, Sikora L, Chakraborty P, Wilson K, et al. Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases. Orphanet J Rare Dis. 2018;13:104 pubmed publisher
    ..Future directions for our work include developing a framework to expand current evidence synthesis practices to take into consideration many of the concepts discussed in this paper. ..
  3. Potter B, O Reilly N, Etchegary H, Howley H, Graham I, Walker M, et al. Exploring informed choice in the context of prenatal testing: findings from a qualitative study. Health Expect. 2008;11:355-65 pubmed publisher
    ..Further development of measures of informed choice may be necessary to fully evaluate decision support tools and to determine whether prenatal testing programmes are meeting their objectives. ..
  4. Potter B, Little J, Chakraborty P, Kronick J, Evans J, Frei J, 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;35:115-23 pubmed publisher
  5. Potter B, Etchegary H, Nicholls S, Wilson B, Craigie S, Araia M. Education and parental involvement in decision-making about newborn screening: understanding goals to clarify content. J Genet Couns. 2015;24:400-8 pubmed publisher
    ..Further research and discussion is important to determine the most appropriate strategies for delivering the tailored approach to education that emerged from our analysis. ..
  6. Khangura S, Tingley K, Chakraborty P, Coyle D, Kronick J, Laberge A, et al. Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups. J Inherit Metab Dis. 2016;39:139-47 pubmed publisher
  7. Potter B, Manuel D, Speechley K, Gutmanis I, Campbell M, Koval J. Is there value in using physician billing claims along with other administrative health care data to document the burden of adolescent injury? An exploratory investigation with comparison to self-reports in Ontario, Canada. BMC Health Serv Res. 2005;5:15 pubmed
    ..The limitations inherent in different datasets highlight the need to continue rely on multiple information sources for complete injury surveillance information. ..
  8. Karaceper M, Chakraborty P, Coyle D, Wilson K, Kronick J, Hawken S, et al. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. Orphanet J Rare Dis. 2016;11:12 pubmed publisher
    ..This is particularly important as additional disorders are added to expanded screening panels, yielding important clinical benefits for affected children but also a higher frequency of false positive findings. ..
  9. Potter B, Hutton B, Clifford T, Pallone N, Smith M, Stockler S, et al. Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys. Trials. 2017;18:603 pubmed publisher
    ..Such trials will contribute high-quality evidence to inform decision-making by patients and their family members, clinicians, and policy-makers. ..

More Information


  1. Siddiq S, Wilson B, Graham I, Lamoureux M, Khangura S, Tingley K, et al. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Orphanet J Rare Dis. 2016;11:168 pubmed
    ..Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD. ..