[Show abstract][Hide abstract] ABSTRACT: This study aimed to assess acceptability of prenatal testing (PNT) and termination of pregnancy (TOP) for a range of conditions in Pakistani parents with and without a child with a genetic condition. A structured questionnaire assessing acceptability of PNT and TOP for 30 conditions was completed by 400 Pakistani participants: 200 parents with a child with a genetic condition (100 fathers and 100 mothers) and 200 parents without an affected child (100 fathers and 100 mothers). There was a high level of interest in PNT, where over 80 % of parents in all four study groups would want PNT for the majority of the conditions. There was comparatively less interest in TOP for the same conditions (ranging from 5 to 70 % of parents, with mothers of an affected child being most interested). Parents were most likely to be interested in TOP for conditions at the serious end of the continuum. More than half of the participants in each group would consider TOP for anencephaly and quadriplegia. The interest in PNT and TOP for a range of conditions suggests that rapidly developing PNT technologies are likely to be acceptable in Pakistan, a low-middle income level and Muslim country. The comparatively lower level of interest in TOP for the same conditions highlights ethical dilemmas that such technologies are likely to raise.
[Show abstract][Hide abstract] ABSTRACT: 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.European Journal of Human Genetics advance online publication, 11 June 2014; doi:10.1038/ejhg.2014.111.
European journal of human genetics: EJHG 06/2014; · 3.56 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Qualitative research is undertaken with randomized controlled trials of health interventions. Our aim was to explore the perceptions of researchers with experience of this endeavour to understand the added value of qualitative research to the trial in practice.
[Show abstract][Hide abstract] ABSTRACT: There is growing recognition of the value of conducting qualitative research with trials in health research. It is timely to reflect on how this qualitative research is presented in grant proposals to identify lessons for researchers and research commissioners. As part of a larger study focusing on how to maximise the value of undertaking qualitative research with trials, we undertook a documentary analysis of proposals of funded studies.
Using the metaRegister of Controlled Trials (mRCT) database we identified trials funded in the United Kingdom, ongoing between 2001 and 2010, and reporting the use of qualitative research. We requested copies of proposals from lead researchers. We extracted data from the proposals using closed and open questions, analysed using descriptive statistics and content analysis respectively.
2% (89/3812) of trials in the mRCT database described the use of qualitative research undertaken with the trial. From these 89 trials, we received copies of 36 full proposals, of which 32 met our inclusion criteria. 25% used less than a single paragraph to describe the qualitative research. The aims of the qualitative research described in these proposals focused mainly on the intervention or trial conduct. Just over half (56%) of the proposals included an explicit rationale for conducting the qualitative research with the trial, the most frequent being to optimise implementation into clinical practice or to interpret trial findings. Key information about methods, expertise and resources was missing in a large minority of proposals, in particular sample size, type of analysis, and non-personnel resources. 28% specifically stated that qualitative researchers would conduct the qualitative research.
Our review of proposals of successfully funded studies identified good practice but also identified limited space given to describing the qualitative research, with an associated lack of attention to the rationale for doing the qualitative research and important methodological details. Acknowledging the space restrictions faced by researchers writing grant proposals, we suggest a starting point for providing practical guidance to help researchers write proposals and research commissioners assess proposals of qualitative research with trials.
BMC Medical Research Methodology 02/2014; 14(1):24. · 2.21 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The arrival of personalized medicine in the clinic means that treatment decisions will increasingly rely on test results. The challenge of limited healthcare resources means that the dissemination of these technologies will be dependent on their value in relation to their cost, i.e., their cost effectiveness. Phelps and Mushlin have described how to optimize tests to meet a cost-effectiveness target. However, when tests are applied repeatedly the case mix of the patients tested changes with each administration, and this impacts upon the value of each subsequent test administration. In this article, we present a modification of Phelps and Mushlin's framework for diagnostic tests; to identify the cost-effective cut-off for monitoring tests. Using the Ca125 test monitoring for relapse in ovarian cancer, we show how the repeated use of the initial cut-off can lead to a substantially increased false-negative rate compared with the monitoring cut-off-over 4 % higher than in this example-with the associated harms for individual and population health.
[Show abstract][Hide abstract] ABSTRACT: 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.European Journal of Human Genetics advance online publication, 8 January 2014; doi:10.1038/ejhg.2013.296.
European journal of human genetics: EJHG 01/2014; · 3.56 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Availability and accuracy of genetic testing in ophthalmology has increased yet the benefits are unclear especially for those conditions where cure or treatments are limited. To explore attitudes to and patients' understanding of possible advantages and disadvantages of genetic testing for inherited retinal disease, we undertook focus groups in three West Yorkshire towns in the UK. Most of our participants had retinitis pigmentosa and one of the focus groups consisted of participants from (British) Asian ethnic background. Here, we report only those attitudes which were common in all three focus groups. Some of the attitudes have already been reported in the literature. Novel findings include attitudes held towards informed choice and life planning, particularly among more severely affected participants. For example, participants appreciated that genetic testing increases informed choice and enables life planning, but these understandings tended to be in a specific sense: informed choice whether to have children and family planning in order to prevent illness recurrence. We conclude that even though these patients are not a homogeneous group, their attitudes tend to be underpinned by deep anxiety of passing their visual impairment onto their children. In this respect, they differ importantly from a small minority of the deaf who would prefer to have children with hearing loss, and from the more general population who do not believe that blindness is a "severe" enough disability to warrant avoiding having children.
[Show abstract][Hide abstract] ABSTRACT: Cystic fibrosis (CF) is one of the most common life-threatening genetically inherited conditions and prenatal screening for CF is available in many countries. Genetic counsellors and other health professionals are expected to provide information about the condition in a way that facilitates personal decision making. Knowing what information to deliver about complex genetic conditions to support informed screening decisions can be challenging for health professionals.
To solicit views from those with personal experience with CF on which aspects of the condition they consider most important to include in prenatal screening materials.
Q-methodology; an approach to systematically explore variations in viewpoint that combines factor analytic techniques with qualitative approaches to pattern interpretation. Setting and Participants: Twelve adults with CF and 18 parents of affected children were recruited from a regional centre in the UK.
Five distinct viewpoints on the items most and least important to include in screening information were identified: Factor 1 the normality of life with CF and increasing life expectancy; Factor 2 the hardships and reduced lifespan. Factor 3 medical interventions and the importance of societal support. Factor 4 longer-term consequences of CF. Factor 5 the ability to adjust to the condition.
The identification of five different views on what represented the most and least important information to include about CF highlights the challenge of portraying a complex genetic condition in a balanced and accurate manner. Novel ways in which Q-methodology findings can be used to meet this challenge are presented.
Health expectations: an international journal of public participation in health care and health policy 08/2013; · 1.80 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Background: Cystic ﬁbrosis (CF) is one of the most common life threatening genetically inherited conditions and prenatal screening for CF is available in many countries. Genetic counsellors and other health professionals are expected to provide information about the condition in a way that facilitates personal decision making. Knowing what information to deliver about complex genetic conditions to support informed screening decisions can be challenging for health professionals.
Objective To solicit views from those with personal experience with CF on which aspects of the condition they consider most important to include in prenatal screening materials.
Methods Q-methodology; an approach to systematically explore variations in viewpoint that combines factor analytic techniques with qualitative approaches to pattern interpretation.
Setting and Participants: Twelve adults with CF and 18 parents of aﬀected children were recruited from a regional centre in the UK.
Results: Five distinct viewpoints on the items most and least important to include in screening information were identiﬁed: Factor 1 the normality of life with CF and increasing life expectancy; Factor 2 the hardships and reduced lifespan. Factor 3 medical interventions and the importance of societal support. Factor 4 longer-term consequences of CF. Factor 5 the ability to adjust to the condition.
Discussion: The identiﬁcation of ﬁve diﬀerent views on what represented the most and least important information to include about CF highlights the challenge of portraying a complex genetic condition in a balanced and accurate manner. Novel ways in which Q-methodology ﬁndings can be used to meet this challenge are presented.
[Show abstract][Hide abstract] ABSTRACT: 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.
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.
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).
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.
The British journal of ophthalmology 06/2013; · 2.92 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To develop an empirically based framework of the aspects of randomised controlled trials addressed by qualitative research.
Systematic mapping review of qualitative research undertaken with randomised controlled trials and published in peer-reviewed journals.
MEDLINE, PreMEDLINE, EMBASE, the Cochrane Library, Health Technology Assessment, PsycINFO, CINAHL, British Nursing Index, Social Sciences Citation Index and ASSIA.
Articles reporting qualitative research undertaken with trials published between 2008 and September 2010; health research, reported in English.
296 articles met the inclusion criteria. Articles focused on 22 aspects of the trial within five broad categories. Some articles focused on more than one aspect of the trial, totalling 356 examples. The qualitative research focused on the intervention being trialled (71%, 254/356); the design, process and conduct of the trial (15%, 54/356); the outcomes of the trial (1%, 5/356); the measures used in the trial (3%, 10/356); and the target condition for the trial (9%, 33/356). A minority of the qualitative research was undertaken at the pretrial stage (28%, 82/296). The value of the qualitative research to the trial itself was not always made explicit within the articles. The potential value included optimising the intervention and trial conduct, facilitating interpretation of the trial findings, helping trialists to be sensitive to the human beings involved in trials, and saving money by steering researchers towards interventions more likely to be effective in future trials.
A large amount of qualitative research undertaken with specific trials has been published, addressing a wide range of aspects of trials, with the potential to improve the endeavour of generating evidence of effectiveness of health interventions. Researchers can increase the impact of this work on trials by undertaking more of it at the pretrial stage and being explicit within their articles about the learning for trials and evidence-based practice.
[Show abstract][Hide abstract] ABSTRACT: BACKGROUND: Over recent years a number of novel therapies have shown promise in advanced renal cell carcinoma (RCC). Internationally the standard of care of first-line therapy is sunitinibTM, after a clear survival benefit was demonstrated over interferon-alpha. Convention dictates that sunitinib is continued until evidence of disease progression, assuming tolerability, although there is no evidence that this approach is superior to intermittent periods of treatment. The purpose of the STAR trial is to compare the standard treatment strategy (conventional continuation strategy, CCS) with a novel drug free interval strategy (DFIS) which includes planned treatment breaks. METHODS: The STAR trial is an NIHR HTA-funded UK pragmatic randomised phase II/III clinical trial in the first-line treatment of advanced RCC. Participants will be randomised (1:1) to either a sunitinib CCS or a DFIS. The overall aim of the trial is to determine whether a DFIS is non-inferior, in terms of 2-year overall survival (OS) and quality adjusted life years (QALY) (averaged over treatment and follow up), compared to a CCS. The QALY primary endpoint was selected to assess whether any detriment in terms of OS could be balanced with improvements in quality of life (QoL). This is a complex trial with a number of design challenges, and to address these issues a feasibility stage is incorporated into the trial design. Predetermined recruitment (stage A) and efficacy (stage B) intermediary endpoints must be met to allow continuation to the overall phase III trial (stage C). An integral qualitative patient preference and understanding study will occur alongside the feasibility stage to investigate patients' feelings regarding participation or non-participation in the trial. DISCUSSION: The optimal duration of continuing sunitinib in advanced RCC is unknown. Novel targeted therapies do not always have the same constraints to treatment duration as standard chemotherapeutic agents and currently there are no randomised data comparing different treatment durations. Incorporating planned treatment breaks has the potential to improve QoL and cost effectiveness, hopefully without significant detriment on OS, as has been demonstrated in other cancer types with other treatments.Trial RegistrationControlled-trials.com ISRCTN 06473203.
BMC Cancer 12/2012; 12(1):598. · 3.33 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: BACKGROUND: Family history is often referred to as a family tree in casual everyday conservations, but it carries a different connotation in medicine. This study is the first to investigate people's understanding of 'family medical history' and the concept of 'family' in the context of inherited cancer. METHODS: Three hundred and nine staff at the Faculty of Medicine and Health, University of Leeds completed an online web survey. RESULTS: Not all respondents understood or knew what makes a family history of cancer. Only 54% knew exactly the type of information required to make a family history. Apart from blood relatives, adopted and step-siblings, step parents, in-laws, spouses, friends and colleagues were also named as 'family' for family history taking. Personal experience of living with cancer and academic qualification were not significant in influencing knowledge of family history. CONCLUSIONS: There is misunderstanding and poor knowledge of family history of cancer and the type of information required to make a family history even in a sample of people teaching and researching medicine and health issues. Public understanding of the value of family medical history in cancer prevention and management is important if informed clinical decisions and appropriate health care are to be delivered.
Health expectations: an international journal of public participation in health care and health policy 08/2012; · 1.80 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: PURPOSE: The general health questionnaire-12 (GHQ-12) is a self-report instrument for measuring psychological morbidity. Previous work has suggested several multidimensional models for this instrument, although it has recently been proposed that these may be an artefact resulting from a response bias to negatively phrased items. The aim here was to explore the dimensionality of the GHQ-12. METHODS: Cluster analysis, exploratory factor analysis and confirmatory factor analysis were applied to waves of data from the English longitudinal study of ageing (ELSA Waves 1 and 3), in order to evaluate fit and factorial invariance over time of the GHQ-12. RESULTS: Two categories of respondents were identified: high and low scorers. Item variances were higher across all items for high scorers and higher for negatively phrased items (for both high and low scorers). The unidimensional model accounting for variance observed with negative phrasing (Hankins in Clin Pract Epidemiol Ment Health 4:10, 2008) was identified as having the best model fit across the two time points. CONCLUSIONS: Item phrasing, item variance and levels of respondents' distress affect the factor structure observed for the GHQ-12 and may perhaps explain why different factor structures of the instrument have been found in different populations.
Quality of Life Research 02/2012; · 2.41 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Background: The development of pre-implantation genetic diagnosis (PGD) means that it is possible to avoid the birth of a child with a genetic condition without a termination. Objectives: Three issues were addressed. (1) Do decisions to terminate pregnancy following prenatal diagnosis (PND) differ from decisions not to implant embryos following PGD? (2) Do differences vary according to the condition diagnosed? (3) We performed a preliminary exploration of factors that might influence differences. Method: In Study 1, 216 participants were randomly assigned to two conditions and were asked whether they would terminate a pregnancy (PND group) or avoid implantation (PGD group) following diagnosis of five genetic conditions. In Study 2, 11 women completed a questionnaire prior to an interview. Results: In Study 1, there was interaction between the technology (PND or PGD) and the severity of the genetic condition diagnosed. For the most and least severe conditions, the number of women choosing to terminate/avoid implantation was similar in both groups. For conditions in the middle range of severity significantly more women said that they would avoid implantation. In Study 2, thematic analysis identified a number of themes that might influence decision-making. Conclusion: The technology used to test plays an important factor in decision-making for some conditions.
Journal of Reproductive and Infant Psychology 01/2012; 30(4). · 0.67 Impact Factor