The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases

Rare diseases bring on a heavy health, social and economic burden that impacts patients’ lives and puts pressure on the healthcare system. Furthermore, they are often associated with limited published studies to inform multidisciplinary clinical practice thus limiting evidence-based practice. Moreover, the development of knowledge translation products including clinical care guidelines are often very challenging based on the current available methodological frameworks relying mostly on critical appraisal of the published research evidence where randomized clinical trial design is considered as the gold standard. To overcome this barrier, we proposed the Rare Knowledge Mining Methological Framework (RKMMF). The RKMMF is one possible answer to improve the development of knowledge translation products for rare diseases. This framework includes other sources of evidence including registry information and qualitative studies and the involvement of expert patients. This article documents the RKMMF structure and its application is exemplified through knowledge translation products developed for a neuromuscular population.

Experiences of the Medication Use Process by People with Intellectual Disabilities. What a Pharmacist Should Know!

There is a scarcity of information about the experience of people with intellectual disabilities in the medication use process. Six people with intellectual disabilities consented to be interviewed by a pharmacist to determine their knowledge and views of medication use. Data from semi-structured interviews were analysed using a grounded theory approach. Self-determination and risk to the quality of the medication use process were identified as theories. Literature review provided two explanations—vulnerabilities of people with intellectual disabilities in healthcare and pharmacists have a role to play in ensuring a quality medication use process for people with intellectual disabilities. People with intellectual disabilities may be ‘expert patients’ and can provide valuable insights into their experience of medication use. They may be ‘high risk’ patients but may not be recognized as such by pharmacists.

Carer reported experiences: supporting someone with a rare disease

Background The uniqueness and complexity of rare diseases, together with a perceived lack of understanding from health professionals, can make caring for someone with a rare disease extremely challenging. Carers are often forced to become expert patients alongside people they care for. Due to the demands placed upon carers it is essential that appropriate support is available for them to ensure they can continue to carry out this vital role. This exploratory study researched challenges carers face when looking after someone with a rare disease and identify how they could be better supported in this role. Methods To be eligible to participate, respondents had to be adults caring for someone with a rare disease. Mixed methods were used including an online survey (n=57 respondents) where carers highlighted a need for better support specific to their mental health needs, liaising with health and social care professionals, financial, communication, training and respite options. During a facilitated workshop (n=32 attendees) discussions focused on challenges carers face as well as priorities to better support carer needs in the future. Results While carers reported several positive aspects of their caring role, the majority of comments highlighted challenges such as sub-optimal interactions with healthcare professionals, insufficient (or absent) emotional, psychological and social support, lack of financial support, and lack of awareness of existing support services. Conclusion It is important that strategies are put in place to ensure that carers take the time they need to care for themselves and raise awareness of available support options for carers of people with a rare disease(s) from health and social care providers, charities, or support groups.

Patients’ perspectives on how to improve diabetes care and self-management: qualitative study

ObjectivePeople living with diabetes need and deserve high-quality, individualised care. However, providing such care remains a challenge in many countries, including Canada. Patients’ expertise, if acknowledged and adequately translated, could help foster patient-centred care. This study aimed to describe Expert Patients’ knowledge, wisdom and advice to others with diabetes and to health professionals to improve diabetes self-management and care.Design and methodsWe recruited a convenience sample of 21 men and women. Participants were people of diverse backgrounds who are Patient Partners in a national research network (hereafter Expert Patients). We interviewed and video-recorded their knowledge, wisdom and advice for health professionals and for others with diabetes. Three researchers independently analysed videos using inductive framework analysis, identifying themes through discussion and consensus. Expert Patients were involved in all aspects of study design, conduct, analysis and knowledge translation.ResultsAcknowledging and accepting the reality of diabetes, receiving support from family and care teams and not letting diabetes control one’s life are essential to live well with diabetes. To improve diabetes care, health professionals should understand and acknowledge the impact of diabetes on patients and their families, and communicate with patients openly, respectfully, with empathy and cultural competency.ConclusionExpert Patients pointed to a number of areas of improvement in diabetes care that may be actionable individually by patients or health professionals, and also collectively through intergroup collaboration. Improving the quality of care in diabetes is crucial for improving health outcomes for people with diabetes.

Views and Experiences of Overweight and Obese Adults on the Barriers and Facilitators to Weight Loss in Southeast Brazil: A Qualitative Study

Background Brazil has seen a large increase in obesity with 54% of the Brazilian population being overweight, of which 20% is obese. Obesity is a major risk factor for non-communicable diseases such as cardiovascular disease: the leading cause of mortality in Brazil. Weight loss can reduce the health and economic burden of obesity-related diseases. Despite many weight loss strategies, the obesity rate in Brazil remains high. This study aims to identify the barriers and facilitators to weight loss as perceived by patients with a view to reducing the burden of obesity-related diseases on patients and healthcare services.Methods Fifteen qualitative, semi-structured, in-depth interviews were conducted with the primary researcher in the preventive medicine department in a private health clinic in Bauru, Sao Paulo State, Southeast Brazil. Inductive thematic analysis was conducted.Results Barriers and facilitators were classified into three key themes: lifestyle, motivation and education. Barriers included the expensive cost of a healthy lifestyle, junk food advertising, risks of outdoor exercise, time restrictions, poor mental health, sleep deprivation, medication side-effects, misinformation and lack of accessibility to weight loss treatment through the public healthcare system. Facilitators to weight loss included a change in eating habits, packed meals, documenting eating habits, motivation from consequences of obesity, acceptance of a lifelong commitment, support from social capital, psychologists in the multidisciplinary team, financial support and good quality education, particularly the use of expert patients as educators.Conclusion The study contributes to the existing literature on obesity in Brazil. Barriers to a healthy lifestyle such as financial difficulties, accessibility to treatment and junk food advertising need to be addressed. Education is vital to promote the facilitators and target these barriers and dispelling myths on weight loss. Expert patients should be utilised as an education method, as they increase motivation and provide realistic expectations of the weight loss process.

Patient-centred medicine: The use of expert patients in medical education (Preprint)

UNSTRUCTURED Abstract Patient-centred medicine (PCM) involves looking at more than just a disease and how to treat it. It has evolved from the realisation that all patients are different physiologically, psychologically, emotionally, and socially, and it therefore encompasses all of these domains in its application. The mainstay of this approach is the promotion of a mutual relationship between patient and doctor that involves creating a secure environment to allow for open dialogue. By learning to listen to patients, and exploring other causes of disease other than physiological ones, doctors are able to provide a holistic approach to treatment. Patients are also actively encouraged to participate in the decision making process by adding their ideas, concerns and expectations. This negotiation allows for flexibility and individualisation of each treatment plan that is tailored to suit each individual patient. In essence, PCM encourages concordance: the agreement between doctor and patient on how to proceed towards a common goal. It is therefore important to teach medical students about PCM as early on in their medical education as possible. This will give them time to hone skills in communication so that they can better understand and explore their patient’s circumstances as well be aware of other domains that may require support. But how can medical schools effectively teach their students PCM? Here we suggest the use of expert patients as a beneficial method for promoting PCM in medical school curriculums as students have the opportunity to gain first hand knowledge of what a patient with a specific disease actually feels, what impact it has on their lives and those around them, and what support they find lacking or useful. Encourage medical curriculums to incorporate expert patients as a resource of information to teach future doctors abotu patient-centred medicine and its holistic objectives.