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The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare diseases. The following ICORD Global Call to Action, developed in collaboration with the International Rare Diseases Research Consortium, synthesizes the outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health.

Background: The Canadian government has committed to developing a national strategy for high-cost drugs for rare diseases starting in 2022. Considering this announcement, we conducted a comparative analysis to examine patient access to therapies for rare disease in each of Canada’s 10 provinces relative to Europe and the U.S., to understand how Canada measures up relative to other countries. Methods: We analyzed all of the therapies with an orphan drug designation approved by the European Medicine Agency (EMA) from 1 January 2015 to 31 March 2020 as the reference for the comparative analysis. We then contrasted access to these drugs in Canada (Health Canada) and the U.S. (Food and Drug Administration, FDA). Our analysis focused on: 1) the number of therapies for rare diseases entering the Canadian market; 2) the percentage of these therapies that are publicly available to Canadians; and 3) the timeliness for patient access to these therapies in Canada. Results: Our analysis identified 63 approved therapies with an orphan drug designation from the EMA. The FDA has approved 53/63 (84%) of these drugs, while Health Canada has approved 41/63 (65%). In Europe, Germany, Denmark, and the U.K. had the highest percentage of publicly reimbursed orphan drugs (84%, 70%, 68%, respectively). In comparison, Ontario (20/63, 32%), Quebec (16/63, 25%), and Alberta (16/63, 25%) had the highest percentage of drugs reimbursed among the Canadian provinces. The shortest median duration (in months) from EMA approval to jurisdictional decision on reimbursement was in Austria (3.2), followed by Germany (4.1), and Finland (6.0). In Canada, the shortest median duration (in months) from regulatory approval to reimbursement was in British Columbia (17.3), Quebec (19.6) and Manitoba (19.6), while the longest duration was in P.E.I (38.5), followed by Nova Scotia (25.9), and Newfoundland (25.1).Conclusions: Our comparative analysis found that Canadians had less frequent and timely access to therapies for rare disease than their global counterparts, highlighting the need for a strategy for rare disease in Canada that optimizes the number of patients with access to rare disease therapies, as quickly as possible.

Introduction/Objectives: Health authorities are facing increasing challenges to the sustainability of their healthcare systems because of the growing expenditures on medicines, including new, high-priced oncology medicines, and changes in disease prevalence in their ageing populations. Medicine prices in European countries are greatly affected by the ability to negotiate reasonable prices. Concerns have been expressed that prices of patented medicines do not fall sufficiently after the introduction of lower-cost generic oncology medicines. The objective of this study was to examine the associations over time in selected European countries between the prices of oral oncology medicines, population size, and gross domestic product (GDP) before and after the introduction of generic versions. Evidence of periodic reassessments of the price, value, and place in treatment of these medicines was also looked for. The goal of this review was to stimulate debate about possible improvements in approaches to reimbursement negotiations. Methodology: Analysis was performed of reimbursed prices of three oral oncology medicines (imatinib, erlotinib and fludarabine) between 2013 and 2017 across Europe. Correlations were explored between GDP, population size, and prices. Findings were compared with previous research regarding prices of generic oral oncology medicines. Results: The prices of imatinib, erlotinib and fludarabine varied among European countries, and there was limited price erosion over time in the absence of generics. There appeared to be no correlation between population size and price, but higher prices of on-patent oral cancer medicines were seen among countries with higher GDP per capita. Conclusion: Limited price erosion for patented medicines contributed to increases in oncology medicine budgets across the region. There was also a concerning lack of evidence re-assessments of the price, value, and place in treatment of patented oncology medicines following the loss of patent protection of standard medicines. The use of such proactive re-assessments in negotiating tactics might positively impact global expenditures for oncology medicines.

Introduction: There are growing concerns among European health authorities regarding increasing prices for new cancer medicines, prices not necessarily linked to health gain and the implications for the sustainability of their healthcare systems. Areas covered: Narrative discussion principally among payers and their advisers regarding potential approaches to the pricing of new cancer medicines. Expert opinion: A number of potential pricing approaches are discussed including minimum effectiveness levels for new cancer medicines, managed entry agreements, multicriteria decision analyses (MCDAs), differential/tiered pricing, fair pricing models, amortization models as well as de-linkage models. We are likely to see a growth in alternative pricing deliberations in view of ongoing challenges. These include the considerable number of new oncology medicines in development including new gene therapies, new oncology medicines being launched with uncertainty regarding their value, and continued high prices coupled with the extent of confidential discounts for reimbursement. However, balanced against the need for new cancer medicines. This will lead to greater scrutiny over the prices of patent oncology medicines as more standard medicines lose their patent, calls for greater transparency as well as new models including amortization models. We will be monitoring these developments., peer-reviewed

Rare diseases collectively exert a global public health burden in the severity of their manifestations and the total number of people they afflict. For many patients, considerable barriers exist in terms of access to appropriate care, delayed diagnosis and limited or non-existing treatment options. Motivated by these challenges, the rare disease patient community has played a critical role, elevating the patient voice and mobilizing legislation to support the development of programs that address the needs of patients with rare diseases. The US Orphan Drug Act of 1983 served as a key milestone in this journey, providing a roadmap for other countries to introduce and implement similar orphan drug legislation; more recently, the European Union (EU) has gone further to encourage the widespread adoption and implementation of rare disease plans or strategies designed to more adequately address the comprehensive needs of patients with rare diseases. Despite these legislative efforts and the growing contributions of patient advocacy groups in moving forward implementation and adoption of rare disease programs, gaps still exist across the policy landscape for several countries. To gain deeper insights into the challenges and opportunities to address key needs of rare disease patients, it is critical to define the current status of rare disease legislation and policy across a geographically and economically diverse selection of countries. We analyzed the rare disease policy landscape across 11 countries: Germany, France, the United Kingdom, Canada, Bulgaria, Turkey, Argentina, Mexico, Brazil, China, and Taiwan. The status and implementation of policy was evaluated for each country in the context of key patient needs across 5 dimensions: improving coordination of care, diagnostic resources, access to treatments, patient awareness and support, and promoting innovative research. Our findings highlight the continuing role of the patient community in driving the establishment and adoption of legislation and programs to improve rare disease care. Further, we found that while national rare disease plans provide important guidance for improving care, implementation of plans is uneven across countries. More research is needed to demonstrate the effect of specific elements of rare disease plans on patient outcomes.

Real-life experiences of grassroots patient organizations across a variety of diseases, countries and contexts have been used to develop a four-mode framework of the transition from patient advocacy to partnership, defined by one axis as individual versus collective action and the other axis as activities 'outside' or 'inside' the system. The four quadrants are labeled as advocacy, activism, reform and broker, and engagement is further refined by whether the participation is 'pushed' by the group or 'pulled' by the system. There are many examples of patient advocacy groups transitioning through the four quadrants; however, depending on other factors of culture, opportunity and their own preferences, groups may work primarily through one or two quadrants.

MCC Report of the Model Consent Clauses Task Force Meeting (Paris, September 6â 7, 2018). (DOCX 138 kb)

Familial hypercholesterolaemia (FH) is an autosomal-dominant disorder associated with high low-density lipoprotein cholesterol (LDL-C). Left untreated, 50% of men with FH will develop coronary heart disease by the age of 50 and 30% of women by the age 60 [1,2]. It is estimated that the prevalence may be as high as one in 250 people, with most undiagnosed. This article explores the development of advocacy in FH patient organisations, citing examples from Canada, the Netherlands, Spain, the US and the UK as well as the pan-European patient organisation, FH Europe. The article demonstrates that for patient advocacy, the link with medical and scientific expertise is essential to ensure that advocacy for familial hypercholesterolaemia is well-founded and credible and that patient associations are prepared to take a long-term view on achieving improvements in identification and treatment.

Introduction: Individuals with visible differences due to medical conditions, such as systemic sclerosis (SSc; scleroderma), have reported difficulty navigating social situations because of issues such as staring, invasive questions, and rude comments. Fears or anxiety linked to situations in which a person interacts with others is known as social interaction anxiety. However, there exists no validated measurement tool to examine social interaction anxiety in rheumatologic conditions. Methods: The present study examines the reliability (internal consistency) and validity (structural and convergent) of the Social Interaction Anxiety Scale-6 (SIAS-6) in a sample of 802 individuals with SSc, and compares these psychometric properties across limited and diffuse subtypes of the disease. Multi-group confirmatory factor analysis was used to examine the factor structure of the SIAS-6 in patients with both limited and diffuse SSc. Results: A one-factor structure was found to fit well for individuals with SSc with both limited and diffuse disease. The measure demonstrated strong internal consistency reliability and convergent validity with relevant measures in expected magnitudes and directions. Conclusions: The SIAS-6 is a psychometrically robust measure that can confidently be used in SSc populations to examine social interaction anxiety. Moreover, scores can meaningfully be compared between patients with limited and diffuse disease., MD Anderson Cancer Center - University of Texas MD Anderson Cancer Center(undefined), Financial support: The Scleroderma Patient-centered Intervention Network (SPIN) is funded by a Canadian Institutes of Health Research (CIHR) Emerging Team Grant for Rare Diseases (PI, Thombs; TR3-119192). In addition to CIHR funding, SPIN has received institutional contributions from the Lady Davis Institute for Medical Research of the Jewish General Hospital, Montréal, Canada and from McGill University, Montréal, Canada. SPIN has also received support from the Scleroderma Society of Ontario, Scleroderma Canada, and Sclérodermie Québec. Ms. Gholizadeh’s work on this project was supported by a Rheumatology Research Foundation: Health Professional Research Preceptorship. Dr. Kwakkenbos was supported by a CIHR Banting Postdoctoral Fellowship. Ms. Jewett was supported by a CIHR Doctoral Research Award. Dr. Thombs was supported by an Investigator Salary Award from the Arthritis Society

Rare disease organizations representing small patient populations have had great impact in helping to secure orphan drug and rare disease legislation by joining forces, in the USA as a national alliance (National Organization for Rare Disorders) and in Europe as a regional alliance (European Organization for Rare Disorders), with a focus on affecting policy [1–3]. In the rest of the world, rare disease alliances have been slower to form and, for the most part, have had less visible impact on national policy. Notable exceptions are patient associations in Taiwan and Japan in the Asia-Pacific region and very recently the alliance in Colombia in Latin America. Through regional and international rare disease conferences and forums, rare disease associations have had opportunities to meet, to discuss common concerns, and to acknowledge their limited individual resources but potentially ‘significant’ collective capabilities. This paper reports on an initiative to establish an alliance of Asia-Pacific organizations, building on the efforts of national alliances and disease-specific groups in each country, with the collective goal of influencing rare disease policy and practice throughout the region.

Only a few years ago, it was unlikely we would find enough evidence of patient involvement in HTA to fill a chapter, let alone a whole book. Clearly, progress has been made, and undoubtedly there will be much more to come; nevertheless, it may be timely to ask: How much real change has taken place in HTA bodies and, as importantly, what has been the impact? This chapter explores this question by considering the evidence from the various countries and/or regions presented in Part III. My own experience, working with patient organizations in Canada and internationally via IAPO, allows me to critically review processes from the perspective of patient advocates who are keen to be involved in HTA processes. First, there are systematic similarities and differences in the ways in which patients are participating in HTA reflecting ideological, developmental, and cultural factors. Second, the goals of stakeholders for patient participation vary both within a healthcare system and across systems, with some goals naturally more conducive to patient involvement than others. Third, there are conditions that support or detract from patient participation in HTA, and examination suggests some best practices that we can build upon.

Purpose To explore parental perceptions and experiences regarding the return of genomic incidental research findings in children with rare diseases. Methods Parents of children affected by various rare diseases were invited to participate in focus groups or individual telephone interviews in Montreal and Ottawa. Fifteen participants were interviewed and transcriptions were analysed using thematic analysis. Results Four emergent themes underscored parental enthusiasm for receiving incidental findings concerning their child’s health: (1) right to information; (2) perceived benefits and risks; (3) communication practicalities: who, when, and how; and (4) service needs to promote the communication of incidental findings. Parents believed they should be made aware of all results pertaining to their child’s health status, and that they are responsible for transmitting this information to their child, irrespective of disease severity. Despite potential negative consequences, respondents generally perceived a favourable risk-benefit ratio in receiving all incidental findings. Conclusions Understanding how parents assess the risks and benefits of returning incidental findings is essential to genomic research applications in paediatric medicine. The authors believe the study findings will contribute to establishing future best practices, although further research is needed to evaluate the impact of parental decisions on themselves and their child.

This study aimed to demonstrate the validity, reliability and responsiveness of a new disease-specific quality of life (QoL) questionnaire for children and adults with thalassaemia major, the Transfusion-dependent QoL questionnaire (TranQol). 106 participants (51 adults and 55 children) were recruited from six North American thalassaemia treatment centres with a mean age of 20·7 years (standard deviation [SD] 9, range 7-51 years). The mean total TranQol score was 71 (SD 17, 32-97) on a scale of 0-100. Patients with co-morbidities had significantly lower scores (63 vs. 75, P = 0·001). TranQol scores showed substantial agreement (P < 0·001) with the Health Utilities Index Mark 3 (all patients, r = 0·65), the Pediatric QoL (children, r = 0·77) and the Short Form (36) physical (adults, r = 0·69) and mental summary scores (r = 0·76). In the subgroup who rated their QoL as better, there was a 4·0 point (SD 9·0) improvement in TranQol scores, from baseline of 67·1-71·1 one week later (P = 0·008). Test-retest reliability was excellent (intra-class correlation coefficient, 0·93). The TranQol was valid, with acceptable correlation for all administered measures and was reliable and responsive to change. The TranQol can be incorporated into future studies of thalassaemia major.

Objectives: A patient reported outcome (PRO) is “any report of the status of a patient's health condition that comes directly from the patient without interpretation of the patient's response by a clinician or anyone else” (USFDA 2009). PROs are discussed widely, and many regard the patients’ perspective on treatment benefit as very valuable. Although many PROs have shown satisfactory measurement properties including reliability, validity, and responsiveness, there is great concern about risk of bias, that is, in clinical trials.Methods: Differences in perspectives of PRO measurement in rare diseases are given arising from methodology, clinical, HTA, and patient advocacy views.Results: PROs are playing an important role in dealing with treatment benefit especially in small sample size as occurring often in rare diseases. Challenges remain especially regarding lack of responsiveness of generic measures, limited capture of all patient relevant aspects, study design and high risk of bias.Conclusions: PROs seem a valuable instrument to detect patient relevant aspects in rare diseases. They should be seen in addition to other approved assessment methods as randomized controlled trials but not as their substitute.

Item does not contain fulltext Body concealment is an important component of appearance distress for individuals with disfiguring conditions, including scleroderma. The objective was to replicate the validation study of the Body Concealment Scale for Scleroderma (BCSS) among 897 scleroderma patients. The factor structure of the BCSS was evaluated using confirmatory factor analysis and the Multiple-Indicator Multiple-Cause model examined differential item functioning of SWAP items for sex and age. Internal consistency reliability was assessed via Cronbach's alpha. Construct validity was assessed by comparing the BCSS with a measure of body image distress and measures of mental health and pain intensity. Results replicated the original validation study, where a bifactor model provided the best fit. The BCSS demonstrated strong internal consistency reliability and construct validity. Findings further support the BCSS as a valid measure of body concealment in scleroderma and provide new evidence that scores can be compared and combined across sexes and ages. 8 p.

Policy makers, healthcare managers, and HTA producers are increasingly interested in exploring strategies for involving the public and patients in HTA activities [1, 7]. While public involvement in HTA can be a response to the need for more transparency and accountability in decisions regarding funding of drugs, devices, and healthcare procedures [1, 20], patient involvement in HTA can be seen as a way to enhance the relevance of the technologies and services that are provided by considering end users’ needs and values [8, 23]. Experiential knowledge regarding a particular health condition or the use of a given technology can be gained through patient consultation, including direct patient input [12, 30]. Furthermore, involving patients in health decision-making promotes their empowerment and can improve adherence to therapy and/or reporting of adverse effects, which could ultimately improve their health and well-being [30, 33].

INTRODUCTION:Some countries have distinct pathways for drugs for rare diseases (DRDs) (1). In May 2014, the Canadian Agency for Technologies in Health (CADTH) rejected the option of a separate review pathway for DRDs, reiterating that “pharmacoeconomic analyses are critical for all types of drugs”. While the gap between positive recommendations for common and rare drugs may have narrowed, the rejection for DRDs is still proportionally much higher (2). The default has been to provincially negotiate drug access, for patient populations, subgroups or individuals. Still not wishing to create a separate pathway, in March 2016, CADTH produced a revised evaluation framework for “uncertain clinical and pharmacoeconomic evidence” and other considerations representing “significant unmet need” including rarity and difficulty to study because of small patient population”(3). This study analyzes recommendations for DRDs following the two CADTH revisions.METHODS:Methods used were: synthesis of previously conducted analyses of CADTH recommendations for rare and non-rare drugs, primary comparative analysis of CADTH recommendations for DRDs from 2004 to 2016, and qualitative analysis of two drugs submitted for both rare and non-rare conditions: everolimus (breast cancer, pancreatic neuroendocrine tumours, and tuberous sclerosis complex) and ibrutinib (chronic lymphocytic leukemia, small lymphocytic lymphoma, and Waldenström's Macroglobulinemia).RESULTS:Previous analyses found that DRDs received more negative recommendations than did non-rare drugs; both clinical and economic evidence were differentiating factors. The primary analysis provided an additional understanding of reasons for negative recommendations. There is low consistency across assessments and across the two CADTH review committees. The case studies illustrated the challenges for DRDs to overcome barriers of cost-effectiveness and certainty of clinical evidence, even with the revised framework.CONCLUSIONS:This research challenges the premise that Health Technology Assessment for all drugs can result in fair and equitable recommendations for DRDs. Moreover, assessments based on “significant unmet need” do not appear to provide consistent or equitable guidelines for addressing the issues specific to rare diseases.

Quality indicators are increasingly used as a tool to achieve safe and quality clinical care, cost-effective therapy, for professional learning, remuneration, accreditation and financial incentives. A substantial number focus on drug therapy but few address the introduction of new medicines even though this is a burning issue. The objective was to describe the issues and challenges in designing and implementing a transparent indicator framework and evaluation protocol for the introduction of new medicines and to provide guidance on how to apply quality indicators in the managed entry of new medicines. Quality indicators need to be developed early to assess whether new medicines are introduced appropriately. A number of key factors need to be addressed when developing, applying and evaluating indicators including dimensions of quality, suggested testing protocols, potential data sources, key implementation factors such as intended and unintended consequences, budget impact and cost- effectiveness, assuring the involvement of the medical professions, patients and the public, and reliable and easy-to-use computerized tools for data collection and management. Transparent approaches include the need for any quality indicators developed to handle conflict of interests to enhance their validity and acceptance. The suggested framework and indicator testing protocol may be useful in assessing the applicability of indicators for new medicines and may be adapted to healthcare settings worldwide. The suggestions build on existing literature to create a field testing methodology that can be used to produce country- specific quality indicators for new medicines as well as a cross international approach to facilitate access to new medicines.

This paper draws upon published literature, focus groups, workshops, and individual patient views to identify general use of Internet for health information and, specifically, use of cross-border Internet pharmacy Web sites to locate and purchase prescription drugs. The paper applies the theoretical frameworks of risk perception theory and social cognition theory to attempt to explain why American patients continue to shop for prescription medications through cross-border Internet pharmacies (CBIP) despite its questionable legal status and potential for serious harm.

Upon reading the paper published in this issue of The Patient: Patient-Centered Outcomes Research [1] on public reports for vulnerable populations living with diabetes mellitus, I reacted with surprise to the observation that ‘‘patients have not been systematically engaged in the development, design, and dissemination of publicly available reports on healthcare quality and health information.’’ In reality, the disenfranchisement goes far beyond the vulnerable or marginalized populations, although the repercussions are heightened with vulnerable groups. Paradoxically, there is growing evidence and agreement that patients who are engaged and participate in managing their own healthcare achieve better outcomes [2]. Moreover, patients everywhere are increasingly expected to take an active role in making informed decisions about their healthcare and to take shared responsibility for managing their health condition, especially chronic conditions such as diabetes, arthritis, and cardiovascular conditions. However, we have less confidence and scant evidence that ‘‘a broad spectrum’’ of patients is actually informed, engaged, and empowered to participate as partners. ‘‘Despite this encouraging evidence, self-management is the least implemented and most challenging area of chronic disease management’’ [3]. Why is there such a gap between the seemingly consensual common sense of the value of patient engagement and patient participation in the real world? According to some critics, ‘‘if patients are not engaged, it’s because we as the healthcare system have not been effective in engaging them’’ [4]. More importantly, to make good choices, it is essential that patients have access to quality information not only about ‘‘best practices’’ on how to manage their condition but also practical information about the options available to them and how to find the resources and support needed. So, while governments are increasingly mandating healthcare providers to monitor, measure, and make publicly available indicators of healthcare quality, performance, and outcomes [5, 6], there is a paucity of research as to (a) how (if) patients are using this information and (b) whether it is even relevant to them. Indeed, the research emerging is that ‘‘quality indicators’’ collected by hospitals and other healthcare systems are not useful in guiding patients to the right healthcare provider, the right treatment options, and the right facility [7, 8]. What are the barriers to patients having access to the information and resources that would foster patient engagement? And what are health systems doing about it? One solution is to make information more accessible to patients. The Leapfrog Group, for example, is challenging the status quo whereby ‘‘detailed information about products such as TV’s, cars, and computers is far easier to find than information about hospitals or your doctor’’ [9]. However, it is not clear that the ‘‘self-reported’’ survey data (including items such as computerized ordering of medicines or length of stay) provide most patients with the information to make an informed decision. Nor do websites posting patient ratings of doctors appear to have much influence [10]. Another option is to invite patients to serve on hospital and other health system advisory boards. The Health Care Advisory Board offers strategies, solutions, and a toolkit & Durhane Wong-Rieger durhane@sympatico.ca

This article is a call for action to the relevant stakeholders to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region by looking into three main areas: (a) developing legislative definitions to confer enforceable protection, (b) creating or strengthening policies by objectively measuring the impact brought about by rare diseases and establishing platforms to reach out to the rare disease community, and (c) fostering collaboration across sectors and countries. It is hoped that these suggested actions can catalyze discussions and progress in the region.

Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.Methods: Discussion with an expert panel was augmented with references and case studies to explore robust approaches for HTA evidence generation for rare disease treatments.Results: Traditional RCTs can be modified using sequential, three-stage or adaptive designs to gain more power from a small patient population or to focus trial design. However, such designs need to maintain important design aspects such as randomization and blinding and be analyzed to take account of the multiple analyses performed. N-of-1 trials use within-patient randomization to test repeat periods of treatment and control until a response is clear. Such trials could be particularly valuable for rare diseases and when prospectively planned across several patients and analyzed using Bayesian techniques, a population effect can be estimated that might be of value to HTA. When the optimal outcome is unclear in a rare disease, disease specific patient reported outcomes can elucidate impacts on patients’ functioning and wellbeing. Likewise, qualitative research can be used to elicit patients’ perspectives, with just a small number of patients.Conclusions: International consensus is needed on ways to improve evidence collection and assessment of technologies for rare diseases, which recognize the value of novel study designs and analyses in a setting where the outcomes and effects of importance are yet to be agreed.

Access to drugs for rare diseases varies considerably, not only in terms of which drugs are reimbursed but also which patients get access. Five-year-old Luc has been diagnosed with MPS II (Hunter’s Syndrome), a genetic disorder with progressive debilitating symptoms affecting the joints and major organs and, in some children, cognitive functioning. The good news is that there is an approved drug treatment that is effective in “slowing the progression of symptoms”; however, the pivotal clinical trials were only conducted with children over the age of five who had no cognitive impairment. While disease severity is hard to diagnose at an early age, his physician believes Luc has some cognitive impairment. Luc’s ability to get access to treatment depends on where he lives.

Considerable variety in how patients respond to treatments, driven by differences in their geno- and/ or phenotypes, calls for a more tailored approach. This is already happening, and will accelerate with developments in personalized medicine. However, its promise has not always translated into improvements in patient care due to the complexities involved. There are also concerns that advice for tests has been reversed, current tests can be costly, there is fragmentation of funding of care, and companies may seek high prices for new targeted drugs. There is a need to integrate current knowledge from a payer’s perspective to provide future guidance. Multiple findings including general considerations ; influence of pharmacogenomics on response and toxicity of drug therapies ; value of biomarker tests ; limitations and costs of tests ; and potentially high acquisition costs of new targeted therapies help to give guidance on potential ways forward for all stakeholder groups. Overall, personalized medicine has the potential to revolutionize care. However, current challenges and concerns need to be addressed to enhance its uptake and funding to benefit patients

Background: Patients with thalassemia major require red cell transfusions for survival and have to deal with iron overload and chelation. Chelation is burdensome, traditionally involving nightly prolonged subcutaneous infusion therapy. We developed a disease-specific tool for these patients (TranQol) to measure their unique quality of life issues. Methods: Pediatric and adult thalassemia health care professionals and quality of life methodology experts generated 69 potential items. 74 further questions were generated through interviews with patients (pediatric and adult) and parents. Results: 120 participants contributed: 16 healthcare workers, 31 children and 30 adults with thalassemia and 43 parents. Duplicate and infrequent questions were discarded leaving 58 items. Three self-reported questionnaires (child, parent and adult) and one child proxy-report for parents were developed. Questionnaire length ranged from 29 (child’s) to 39 (parent’s). Questions were grouped into four domains: physical health, emotional health, family functioning, and school and career functioning. A fifth category on sexual activity included only one item. Cognitive debriefing was done by interviewing additional children, parents, and adults. As a result, three items were added, one was deleted and 16 were modified. Conclusion: The TranQol is a new disease-specific quality of life measure for thalassemia major patients developed using rigorous methodology.

To effectively manage diabetes mellitus, patients must adhere to treatment recommendations and healthy lifestyle behaviors, but research shows many patients do not do this. Education is effective when combined with self-management support but peer-support programs do not lead to lasting changes. Health coaching, or professional support, can be highly effective if it focuses on developing self-efficacy and skills such as goal-setting, problem-solving and managing cognitive and emotional barriers. This overview discusses the benefits of patient self-management for chronic conditions such as diabetes, core competencies for health coaching, theoretical bases and principles of health coaching interventions, delivery methods and the evidence that health coaching works for diabetes self-management.

With support from patient associations, political frameworks for rare diseases have been established throughout the world albeit with varying definitions for rare diseases. In the USA, the National Organization for Rare Disorders was instrumental in passing the 1983 Orphan Drug Act and the 2002 Rare Disease Act, which includes medical devices and dietary products as orphan products. In 2011, the House passed bills supporting research for undiagnosed diseases and preserving regulatory fee exceptions for orphan drugs. In 2012, the Canadian government awarded five-year rare disease research grants. With advocacy from the Canadian Organization for Rare Disorders, Health Canada concluded consultations on an orphan drug regulatory framework. Several provinces have implemented orphan drug access programs and expanded newborn screening. In Argentina, the Geiser Foundation led advocacy resulting in the 2011 Rare Disease Law, obliging health and social systems to provide assistance. A central committee, including patients, will coordinate activities like neonatal screening and patient registries. In 2010, Colombia passed the Orphan Disease Law and hosted the 2nd National Forum of Orphan Diseases. In 2011, Peru passed legislation promoting treatment and a national strategy including diagnosis, surveillance, prevention, care, and rehabilitation. Through the 1972 Medical Care Program for Specific Diseases, Japan provides medical cost subsidy to patients affected by “56 rare and intractable diseases.” The 1993 Orphan Drug Law supports research and development. In 2008, Supporting Organizations for Patients with Rare Diseases was formed. Since 1991, Singapore’s Orphan Drugs Policy allows patients with life-threatening and severely debilitating diseases with no other treatment options to access approved drugs prescribed by their practitioner. The Taiwan Foundation for Rare Disorders helped secure the Rare Disease and Orphan Drugs Act in 2000. Diseases affecting fewer than 1 in 10,000 that are officially recognized are eligible for medical coverage. In Korea, the Orphan Drug Centre supplies medicines for diseases affecting fewer than 1 in 20,000. The Genetics and Rare Disease Centre supports national reference centres and research. In China, in 2011, medical professionals called for legislation to support healthcare, research, orphan drug development, and epidemiological studies for diseases affecting fewer than 1 in 10,000. Australia’s 1987 Orphan Drugs Policy makes available rare disease drugs, based on US regulatory information. In 2010, consultation for a national strategy was posted online. In 2012, Rare Voices Australia was formed.