Fiona M Walter

Lay Understanding of Familial Risk of Common Chronic Diseases: A Systematic Review and Synthesis of Qualitative Research

PURPOSE Although the family history is increasingly used for genetic risk assessment of common chronic diseases in primary care, evidence suggests that lay understanding about inheritance may conflict with medical models. This study systematically reviewed and synthesized the qualitative literature exploring understanding about familial risk held by persons with a family history of cancer, coronary artery disease, and diabetes mellitus. METHODS Twenty-two qualitative articles were found after a comprehensive literature search and were critically appraised; 11 were included. A meta-ethnographic approach was used to translate the studies across each other, synthesize the translation, and express the synthesis. RESULTS A dynamic process emerged by which a personal sense of vulnerability included some features that mirror the medical factors used to assess risk, such as the number of affected relatives. Other features are more personal, such as experience of a relative’s disease, sudden or premature death, perceived patterns of illness relating to gender or age at death, and comparisons between a person and an affected relative. The developing vulnerability is interpreted using personal mental models, including models of disease causation, inheritance, and fatalism. A person’s sense of vulnerability affects how that person copes with, and attempts to control, any perceived familial risk. CONCLUSIONS Persons with a family history of a common chronic disease develop a personal sense of vulnerability that is informed by the salience of their family history and interpreted within their personal models of disease causation and inheritance. Features that give meaning to familial risk may be perceived differently by patients and professionals. This review identifies key areas for health professionals to explore with patients that may improve the effectiveness of communication about disease risk and management.

The Aarhus statement: improving design and reporting of studies on early cancer diagnosis

Early diagnosis is a key factor in improving the outcomes of cancer patients. A greater understanding of the pre-diagnostic patient pathways is vital yet, at present, research in this field lacks consistent definitions and methods. As a consequence much early diagnosis research is difficult to interpret. A consensus group was formed with the aim of producing guidance and a checklist for early cancer-diagnosis researchers. A consensus conference approach combined with nominal group techniques was used. The work was supported by a systematic review of early diagnosis literature, focussing on existing instruments used to measure time points and intervals in early cancer-diagnosis research. A series of recommendations for definitions and methodological approaches is presented. This is complemented by a checklist that early diagnosis researchers can use when designing and conducting studies in this field. The Aarhus checklist is a resource for early cancer-diagnosis research that should promote greater precision and transparency in both definitions and methods. Further work will examine whether the checklist can be readily adopted by researchers, and feedback on the guidance will be used in future updates.

Acceptability and accuracy of a non-endoscopic screening test for Barrett's oesophagus in primary care: cohort study

Objectives To determine the accuracy and acceptability to patients of non-endoscopic screening for Barrett’s oesophagus, using an ingestible oesophageal sampling device (Cytosponge) coupled with immunocytochemisty for trefoil factor 3. Design Prospective cohort study. Setting 12 UK general practices, with gastroscopies carried out in one hospital endoscopy unit. Participants 504 of 2696 eligible patients (18.7%) aged 50 to 70 years with a previous prescription for an acid suppressant (H2 receptor antagonist or proton pump inhibitor) for more than three months in the past five years. Main outcome measures Sensitivity and specificity estimates for detecting Barrett’s oesophagus compared with gastroscopy as the ideal method, and patient anxiety (short form Spielberger state trait anxiety inventory, impact of events scale) and acceptability (visual analogue scale) of the test. Results 501 of 504 (99%) participants (median age 62, male to female ratio 1:1.2) successfully swallowed the Cytosponge. No serious adverse events occurred. In total, 3.0% (15/501) had an endoscopic diagnosis of Barrett’s oesophagus (≥1 cm circumferential length, median circumferential and maximal length of 2 cm and 5 cm, respectively) with intestinal metaplasia. Compared with gastroscopy the sensitivity and specificity of the test was 73.3% (95% confidence interval 44.9% to 92.2%) and 93.8% (91.3% to 95.8%) for 1 cm or more circumferential length and 90.0% (55.5% to 99.7%) and 93.5% (90.9% to 95.5%) for clinically relevant segments of 2 cm or more. Most participants (355/496, 82%, 95% confidence interval 78.9% to 85.1%) reported low levels of anxiety before the test, and scores remained within normal limits at follow-up. Less than 4.5% (2.8% to 6.1%) of participants reported psychological distress a week after the procedure. Conclusions The performance of the Cytosponge test was promising and the procedure was well tolerated. These data bring screening for Barrett’s oesophagus into the realm of possibility. Further evaluation is recommended.

The Andersen Model of Total Patient Delay: A Systematic Review of Its Application in Cancer Diagnosis:

Objective Patient pathways to presentation to health care professionals and initial management in primary care are key determinants of outcomes in cancer. Reducing diagnostic delays may result in improved prognosis and increase the proportion of early stage cancers identified. Investigating diagnostic delay could be facilitated by use of a robust theoretical framework. We systematically reviewed the literature reporting the application of Andersens Model of Total Patient Delay (delay stages: appraisal, illness, behavioural, scheduling, treatment) in studies which assess cancer diagnosis. Methods We searched four electronic databases and conducted a narrative synthesis. Inclusion criteria were studies which: reported primary research, focused on cancer diagnosis and explicitly applied one or more stages of the Andersen Model in the collection or analysis of data. Results The vast majority of studies of diagnostic delay in cancer have not applied a theoretical model to inform data collection or reporting. Ten papers (reporting eight studies) met our inclusion criteria: three studied several cancers. The studies were heterogeneous in their methods and quality. The review confirmed that there are clearly identifiable stages between the recognition of a symptom, first presentation to a health care professional, subsequent diagnosis and initiation of treatment. There was strong evidence to support the existence and importance of appraisal and treatment delay as defined in the Andersen Model, although treatment delay requires expansion. There was some evidence to support scheduling delay which may be contributed to by both patient and the health service. Illness delay was often difficult to distinguish from appraisal delay. It was less clear whether behavioural delay exists as a separate significant stage. Conclusions Greater consistency is required in the conduct and reporting of studies of diagnostic delay in cancer. We propose refinements to the Andersen Model which could be used to increase its validity and improve the consistency of reporting in future studies.

Factors associated with the presence of diabetic ketoacidosis at diagnosis of diabetes in children and young adults: a systematic review

Objective To identify the factors associated with diabetic ketoacidosis at diagnosis of type 1 diabetes in children and young adults. Design Systematic review. Data sources PubMed, EMBASE, Web of Science, Scopus, and Cinahl and article reference lists. Study selection Cohort studies including unselected groups of children and young adults presenting with new onset type 1 diabetes that distinguished between those who presented in diabetic ketoacidosis and those who did not and included a measurement of either pH or bicarbonate in the definition of diabetic ketoacidosis. There were no restrictions on language of publication. Results 46 studies involving more than 24 000 children in 31 countries were included. Together they compared 23 different factors. Factors associated with increased risk were younger age (for <2 years old v older, odds ratio 3.41 (95% confidence interval 2.54 to 4.59), for <5 years v older, odds ratio 1.59 (1.38 to 1.84)), diagnostic error (odds ratio 3.35 (2.35 to 4.79)), ethnic minority, lack of health insurance in the US (odds ratio 3.20 (2.03 to 5.04)), lower body mass index, preceding infection (odds ratio 3.14 (0.94 to 10.47)), and delayed treatment (odds ratio 1.74 (1.10 to 2.77)). Protective factors were having a first degree relative with type 1 diabetes at the time of diagnosis (odds ratio 0.33 (0.08 to 1.26)), higher parental education (odds ratios 0.4 (0.20 to 0.79) and 0.64 (0.43 to 0.94) in two studies), and higher background incidence of type 1 diabetes (correlation coefficient –0.715). The mean duration of symptoms was similar between children presenting with or without diabetic ketoacidosis (16.5 days (standard error 6.2) and 17.1 days (6.0) respectively), and up to 38.8% (285/735) of children who presented with diabetic ketoacidosis had been seen at least once by a doctor before diagnosis. Conclusions Multiple factors affect the risk of developing diabetic ketoacidosis at the onset of type 1 diabetes in children and young adults, and there is potential time, scope, and opportunity to intervene between symptom onset and development of diabetic ketoacidosis for both parents and clinicians.

The expanding role of primary care in cancer control

The nature of cancer control is changing, with an increasing emphasis, fuelled by public and political demand, on prevention, early diagnosis, and patient experience during and after treatment. At the same time, primary care is increasingly promoted, by governments and health funders worldwide, as the preferred setting for most health care for reasons of increasing need, to stabilise health-care costs, and to accommodate patient preference for care close to home. It is timely, then, to consider how this expanding role for primary care can work for cancer control, which has long been dominated by highly technical interventions centred on treatment, and in which the contribution of primary care has been largely perceived as marginal. In this Commission, expert opinion from primary care and public health professionals with academic and clinical cancer expertise—from epidemiologists, psychologists, policy makers, and cancer specialists—has contributed to a detailed consideration of the evidence for cancer control provided in primary care and community care settings. Ranging from primary prevention to end-of-life care, the scope for new models of care is explored, and the actions needed to effect change are outlined. The strengths of primary care—its continuous, coordinated, and comprehensive care for individuals and families—are particularly evident in prevention and diagnosis, in shared follow-up and survivorship care, and in end-of-life care. A strong theme of integration of care runs throughout, and its elements (clinical, vertical, and functional) and the tools needed for integrated working are described in detail. All of this change, as it evolves, will need to be underpinned by new research and by continuing and shared multiprofessional development.

‘Coming Down the Line’— Patients’ Understanding of Their Family History of Common Chronic Disease

PURPOSE The family history is becoming an increasingly important feature of health promotion and early detection of common chronic diseases in primary care. Previous studies of patients from genetics clinics suggest a divergence between how persons with a family history perceive and understand their risk and the risk information provided by health professionals. This interview study aimed to explore how patients in primary care understand and come to terms with their family history of cancer, heart disease, or diabetes and how family history might affect consultations about disease risk and management. METHODS Thirty semistructured interviews were conducted with general practice patients who had a family history of cancer, heart disease, or diabetes. The transcript data underwent a qualitative constant comparative analysis. RESULTS What exactly constitutes having a family history of an illness varied among participants. The development of a personal sense of vulnerability to the illness in the family depended not only on the biomedical approach of counting affected relatives but also on a sophisticated interplay of other factors. The emotional impact of witnessing the illness in the family, particularly if the illness was sudden, premature, or fatal, and the nature of personal relationships within a family that determine a sense of emotional closeness and personal likeness with the affected relative, all contributed to the perception of disease risk. Different beliefs about the contributions of nature and nurture to disease can affect patients’ views on the degree of control they can exert over their risk. CONCLUSION This study highlights potential differences between the way patients and medical professionals assess and understand familial risk of cancer, heart disease, and diabetes. Our previous systematic review findings are enhanced by showing that personal experience of disease and the emotional impact can also influence familial risk perceptions. Eliciting the patient’s perspective when discussing risk of chronic disease, particularly in the context of a family history, could inform a more patient-centered approach to risk assessment and communication and support patients to make informed decisions about the management of their disease risk.

The model of pathways to treatment: conceptualization and integration with existing theory.

BACKGROUND Studying and understanding pathways to diagnosis and treatment is vital for the development of successful interventions to encourage early detection, presentation, and diagnosis. An existing framework posited to describe the decisional and behavioural processes that occur prior to treatment (Andersen et al.s General Model of Total Patient Delay) does not appear to match the complex and dynamic nature of the pathways into and through the health care system or provide a clear framework for research. Therefore a revised descriptive framework, the Model of Pathways to Treatment, has been proposed. PURPOSE This paper presents the concepts and definitions of the Model of Pathways to Treatment and specifies how the model can encompass existing psychological theory, with particular focus on the Appraisal and Help-seeking intervals. The potential and direction for future work is also discussed. STATEMENT OF CONTRIBUTION WHAT IS ALREADY KNOWN ON THIS SUBJECT?: • The use of theory is often lacking in existing research into delays in presentation, diagnosis and treatment of illness. WHAT DOES THIS STUDY ADD?: • A detailed account of the concepts and definitions of a revised framework: the Model of Pathways to Treatment. • Specification of how the Model of Pathways to Treatment can encompass existing psychological theory such as the Common Sense Model of Illness Self-regulation and Social Cognitive Theory.

Variation between countries in the frequency of diabetic ketoacidosis at first presentation of type 1 diabetes in children: a systematic review

Aims/hypothesisType 1 diabetes is the most frequent endocrine disease in children, with 65,000 children diagnosed worldwide every year. Up to 80% of these children present with diabetic ketoacidosis (DKA), which is associated with both short-term risks and long-term consequences. This study aimed to characterise the worldwide variation in presentation of type 1 diabetes to inform future interventions to reduce this excess morbidity and mortality.MethodsThis was a systematic review of studies indexed on PubMed, EMBASE, Web of Science, Scopus or CINAHL before March 2011 that included unselected groups of children presenting with new-onset type 1 diabetes, reported the proportion presenting with DKA and used a definition of DKA based on measurement of pH or bicarbonate.ResultsSixty-five studies of cohorts comprising over 29,000 children in 31 countries were included. The frequency of DKA at diagnosis ranged from 12.8% to 80%, with highest frequencies in the United Arab Emirates, Saudi Arabia and Romania, and the lowest in Sweden, the Slovak Republic and Canada. Multivariable modelling showed the frequency of DKA was inversely associated with gross domestic product, latitude and background incidence of type 1 diabetes.Conclusions/interpretationThis is the first description of the variation in frequency of DKA at presentation of type 1 diabetes in children across countries. It demonstrates large variations that may, at least in part, be explained by different levels of disease awareness and healthcare provision and suggests ways to decrease the excess morbidity and mortality associated with DKA at diagnosis.

Member Checking A Tool to Enhance Trustworthiness or Merely a Nod to Validation

The trustworthiness of results is the bedrock of high quality qualitative research. Member checking, also known as participant or respondent validation, is a technique for exploring the credibility of results. Data or results are returned to participants to check for accuracy and resonance with their experiences. Member checking is often mentioned as one in a list of validation techniques. This simplistic reporting might not acknowledge the value of using the method, nor its juxtaposition with the interpretative stance of qualitative research. In this commentary, we critique how member checking has been used in published research, before describing and evaluating an innovative in-depth member checking technique, Synthesized Member Checking. The method was used in a study with patients diagnosed with melanoma. Synthesized Member Checking addresses the co-constructed nature of knowledge by providing participants with the opportunity to engage with, and add to, interview and interpreted data, several months after their semi-structured interview.