Barbara Potrata

Understanding distress and distressing experiences in patients living with multiple myeloma: an exploratory study.

Purpose: The aim of this study was to gain greater insight into the symptoms and distressing experiences of patients living with myeloma.

Incentivised case finding for depression in patients with chronic heart disease and diabetes in primary care: an ethnographic study

Objective To examine the process of case finding for depression in people with diabetes and coronary heart disease within the context of a pay-for-performance scheme. Design Ethnographic study drawing on observations of practice routines and consultations, debriefing interviews with staff and patients and review of patient records. Setting General practices in Leeds, UK. Participants 12 purposively sampled practices with a total of 119 staff; 63 consultation observations and 57 patient interviews. Main outcome measure Audio recorded consultations and interviews with patients and healthcare professionals along with observation field notes were thematically analysed. We assessed outcomes of case finding from patient records. Results Case finding exacerbated the discordance between patient and professional agendas, the latter already dominated by the tightly structured and time-limited nature of chronic illness reviews. Professional beliefs and abilities affected how case finding was undertaken; there was uncertainty about how to ask the questions, particularly among nursing staff. Professionals were often wary of opening an emotional ‘can of worms’. Subsequently, patient responses potentially suggesting emotional problems could be prematurely shut down by professionals. Patients did not understand why they were asked questions about depression. This sometimes led to defensive or even defiant answers to case finding. Follow-up of patients highlighted inconsistent systems and lines of communication for dealing with positive results on case finding. Conclusions Case finding does not fit naturally within consultations; both professional and patient reactions somewhat subverted the process recommended by national guidance. Quality improvement strategies will need to take account of our results in two ways. First, despite their apparent simplicity, the case finding questions are not consultation-friendly and acceptable alternative ways to raise the issue of depression need to be supported. Second, case finding needs to operate within structured pathways which can be accommodated within available systems and resources.

Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.

Background/aims The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. Methods Telephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations. Results Questionnaires were completed with 200 participants. Responses indicated that participants’ perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences). Conclusions Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.

Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease

Advances in sequencing technology and the movement of genetic testing into all areas of medicine will increase opportunities for molecular confirmation of a clinical diagnosis. For health-care professionals without formal genetics training, there is a need to know what patients understand about genetics and genetic testing and their information needs and preferences for the disclosure of genetic testing results. These topics were explored during face-to-face interviews with 50 adults with inherited retinal disease, selected in order to provide a diversity of opinions. Participants had variable understanding of genetics and genetic testing, including basic concepts such as inheritance patterns and the risk to dependents, and many did not understand the term ‘genetic counselling’. Most were keen for extra information on the risk to others, the process for genetic testing and how to share the information with other family members. Participants were divided as to whether genetic testing should be offered at the time of the initial diagnosis or later. Many would prefer the results to be given by face-to-face consultation, supplemented by further information in a format accessible to those with visual impairment. Health-care professionals and either leaflets or websites of trusted agencies were the preferred sources of information. Permission should be sought for disclosure of genetic information to other family members. The information needs of many patients with inherited retinal disease appear to be unmet. An understanding of their information needs and preferences is required to help health-care professionals provide optimal services that meet patient expectations.

Willingness to pay for genetic testing for inherited retinal disease.

This paper investigates the willingness of adults with inherited retinal disease to undergo and pay for diagnostic genetic testing in three hypothetical scenarios and to explore the factors that influence decision making. Fifty patients were presented with three scenarios whereby genetic testing provided increasing information: confirming the diagnosis and inheritance pattern alone, providing additional information on future visual function, and identifying in addition a new treatment which could stabilise their condition. Willingness to pay (WTP) was elicited using an iterative bidding game. Regression analysis was used to investigate the probability of agreeing to and paying for testing. Qualitative data were also reviewed to provide a comprehensive understanding of WTP and decision making. The majority of participants agreed to undergo genetic testing in each of the three scenarios. Scenario 2 was the least acceptable with 78% of participants agreeing to genetic testing. The probability of agreeing to genetic testing decreased with age. Between 72 and 96% of participants reported a WTP for genetic testing. Average WTP was £539, £1516, and £6895 for scenarios 1, 2, and 3 respectively. Older participants and participants with higher incomes were willing to pay more for testing. Qualitative data provided additional detail about the rationale behind participants’ decisions. The study suggests that patients with inherited retinal disease were willing to undergo and to pay for diagnostic genetic testing, suggesting that they valued the information it may provide. However, several patients preferred not to receive prognostic information and were less willing to pay for genetic testing that yielded such detail.

Barriers to early presentation of self-discovered breast cancer in Singapore and Malaysia: a qualitative multicentre study.

Objective To explore and compare barriers to early presentation of self-discovered breast cancer in Singapore and Malaysia. Design A qualitative interview study with thematic analysis of transcripts. Participants 67 patients with self-discovered breast symptoms were included in the analysis. Of these, 36% were of Malay ethnicity, 39% were Chinese and 25% Indian, with an average age of 58 years (range 24–82 years). The number of women diagnosed at early stages of cancer almost equalled those at advanced stages. Approximately three-quarters presented with a painless lump, one-quarter experienced a painful lump and 10% had atypical symptoms. Setting University hospital setting in Singapore and Malaysia. Results Patients revealed barriers to early presentation not previously reported: the poor quality of online website information about breast symptoms, financial issues and the negative influence of relatives in both countries, while perceived poor quality of care and services in state-run hospitals and misdiagnosis by healthcare professionals were reported in Malaysia. The pattern of presentation by ethnicity remained unchanged where more Malay delayed help-seeking and had more advanced cancer compared to Chinese and Indian patients. Conclusions There are few differences in the pattern of presentation and in the reported barriers to seek medical care after symptom discovery between Singapore and Malaysia despite their differing economic status. Strategies to reduce delayed presentation are: a need to improve knowledge of disease, symptoms and causes, quality of care and services, and quality of online information; and addressing fear of diagnosis, treatment and hospitalisation, with more effort focused on the Malay ethnic group. Training is needed to avoid missed diagnoses and other factors contributing to delay among health professionals.

Attitudes of patients and relatives/carers towards genetic testing for inherited retinal disease.

Attitudes of patients and relatives/carers towards genetic testing for inherited retinal disease

Asking the right questions to get the right answers: using cognitive interviews to review the acceptability, comprehension and clinical meaningfulness of patient self-report adverse event items in oncology patients.

Abstract Background: Standardized reporting of treatment-related adverse events (AE) is essential in clinical trials, usually achieved by using the National Cancer Institute (NCI) Common Terminology Criteria for Adverse Events (CTCAE) reported by clinicians. Patient-reported adverse events (PRAE) may add value to clinician assessments, providing patient perspective on subjective toxicity. We developed an online patient symptom report and self-management system for real-time reporting and managing AE during cancer treatment integrated with electronic patient records (eRAPID). As part of this program we developed a patient version of the CTCAE (version 4.0), rephrasing terminology into a self-report format. We explored patient understanding of these items via cognitive interviews. Material and method: Sixty patients (33 female, 27 male) undergoing treatment were purposively sampled by age, gender and tumor group (median age 61.5, range 35–84, 12 breast, 12 gynecological, 13 colorectal, 12 lung and 11 renal). Twenty-one PRAE items were completed on a touch-screen computer. Subsequent audio-recorded cognitive interviews and thematic analysis explored patients’ comprehension of items via verbal probing techniques during three interview rounds (n = 20 patients/round). Results: In total 33 item amendments were made; 29% related to question comprehension, 68% response option and 3% order effects. These amendments to phrasing and language improved patient understanding but maintained CTCAE grading and key medical information. Changes were endorsed by members of a patient advisory group (N = 11). Conclusion: Item adaptations resulted in a bank of consistently interpreted self-report AE items for use in future research program. In-depth analysis of items through cognitive interviews is an important step towards developing an internationally valid system for PRAE, thus improving patient safety and experiences during cancer treatment.

The STAR trial: can quality of life benefit offset any survival detriment?

The STAR trial is a UK randomized phase II/III study of first-line sunitinib in locally advanced/metastatic clear cell renal carcinoma (mRCC). It compares the utilization of a sunitinib conventional continuation strategy (CCS) with an experimental sunitinib drug-free interval strategy (DFIS). Sunitinib is approved for the first-line treatment of mRCC and convention dictates that it is continued until disease progression or unacceptable toxicity. Duration of chemotherapy is frequently determined by cumulative toxicity, but this is not necessarily the case for targeted therapies, and the default has previously been to continue these treatments for longer. A DFIS has the potential advantage of improved quality of life (QoL) and cost-effectiveness, due to longer time-periods off-treatment. The STAR trial is unique in determining whether QoL benefits from a DFIS can offset any potential detriment in overall survival (OS). Endpoints will assess both survival and QoL separately, but will also assess averaged QALY (quality of life year). Temporarily stopping a treatment, which is working, is recognized to be potentially challenging for patients, and a qualitative substudy will be performed alongside the phase II trial, to explore patient feelings regarding trial entry and stopping treatment. Results from this will inform recruitment strategies in phase III. The multi-stage design maximizes resource efficacy by facilitating a seamless transition between the phase II and III parts, assuming attainment of the phase II endpoints (recruitment rate and time to strategy failure). It also enables the QALY data from the initial phase II part of the trial to be used to inform and verify the powering of the overall phase III trial, as minimal data was available during initial trial design to power on a QALY outcome. Other novel outcome measures (time to strategy failure and summative progression free interval) have also been required, due to the intermittent nature of the DFIS reducing the utility of the standard progression free survival endpoint. With increasing use of targeted therapies and interest in DFIS due to potential QoL and cost effectiveness benefits, these novel endpoints will be increasing required in future clinical trial designs. The STAR trial will be an exemplar trial in the evaluation of optimal treatment strategies for targeted therapies in other diseases. We will discuss issues relating to the trial design and the methodology relating to the novel endpoints in this study, as well as comment on the implications for future trial design.

Patient attitudes towards prenatal diagnostic testing for inherited retinal disease

To explore factors that influence decision‐making in relation to prenatal diagnostic testing (PDT) for inherited retinal disease (IRD).