Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden.

Genetic counseling is key for understanding the consequences of hereditary and genetic diseases and, therefore, crucial for patients, their families, and healthcare providers. Genetic counseling facilitates individuals' comprehension, decision-making, and adaptation to hereditary diseases. This study focuses on the Swedish adaptation of the Genetic Counseling Outcome Scale-24 (GCOS-24), an internationally validated, patient-reported outcome measure (PROM) for quantifying patient empowerment in genetic counseling. This study aimed to translate and cross-culturally adapt the GCOS-24 to measure patient-reported outcome from genetic counseling in Sweden. The adaptation process was meticulously conducted, adhering to international guidelines, with cross-cultural adaptation, translation, and back translation, to ensure semantic, conceptual, and idiomatic equivalence with the original English version. Face validity and understandability was assured using qualitative cognitive interviews conducted with patient representatives, and by a committee of experts in the field. The psychometric properties of the Swedish version of GCOS-24 (GCOS-24swe) were evaluated using a robust sample of 374 patients. These individuals received genetic counseling by telephone or video, necessitated by the constraints of the COVID-19 pandemic. Participants responded to GCOS-24swe both before and after genetic counseling. The GCOS-24swe demonstrated face validity, good internal consistency (Cronbach's alpha = 0.86), significant responsiveness (Cohen's d = 0.65, p < 0.001), and good construct validity. The study's findings underscore the GCOS-24swe's potential as an effective instrument in both clinical practice and research within Sweden. It offers a valuable means for assessing patient empowerment, a key goal of genetic counseling. Additional psychometric assessment of test-retest reliability and interpretability would further enhance the utility of GCOS-24swe.

Cross-cultural adaptation of the Genetic Counseling Outcome Scale (GCOS-24) for use in Canada: A qualitative study.

The Genetic Counselling Outcome Scale (GCOS)-24 is a patient-reported outcome measure (PROM) developed and validated in the United Kingdom (UK). The aim of this study was to cross-culturally adapt GCOS-24 to Canadian Clinical Genetic Services (CGS). This was achieved through a qualitative study exploring whether the existing GCOS-24 maintains its intended meaning in a Canadian population and assessing whether GCOS-24 items could be better worded to meet the needs of members of families affected by genetic conditions in Canada. Thirteen participants were recruited from Canadian Patient Organizations supporting people and families affected by genetic conditions. Data were collected through semi-structured cognitive interviews, as these allow exploration of participants' comprehension, opinions, thoughts, and feelings regarding GCOS-24's instructions, response options, and the meaning/relevance of each item. Thematic analysis was utilized for data analysis, and an inductive approach to coding was followed to allow for themes to emerge from the data. Themes were organized in respect to their questionnaire item and further classified into their respective Empowerment dimension. The GCOS-24 instructions were found easy to understand by all thirteen participants. Although the response options were also found to be straightforward, the data suggest the questionnaire would benefit from the addition of a "non-applicable" option. Semantic validation of the GCOS-24 showed that items within the Cognitive Control and Emotional Regulation dimensions were found easy to understand by participants. However, items within the Decisional Control, Behavioural Control and Hope dimensions presented semantic difficulties. Participants provided feedback on syntactic changes to support understanding, and this feedback was used to develop a final Canadian-adapted version of GCOS-24, GCOS-Canada. This study provides the first step towards a valid, culturally adapted PROM for use in Canadian CGS service evaluation and research. GCOS-Canada would benefit from psychometric validation to ensure validity, reliability, responsiveness, minimal clinically important difference and internal consistency.

The experiences of families receiving a diagnosis of 22q11.2 deletion syndrome in Ireland.

Families in Ireland often wait over 1 year to see a genetic counselor (GC). This qualitative study aimed to explore the views of families who received a diagnosis of 22q11DS in Ireland regarding the need for timely access to genetic counseling at the point of diagnosis. Twenty participants were recruited through the '22q Ireland' support group, giving a response rate of approximately 10% of the total support group members. Semi-structured interviews were conducted online and by telephone which explored experiences of receiving diagnoses, medical care, genetic counseling, mental health, and coping with the diagnosis. Interviews were transcribed verbatim and analyzed using thematic analysis. The experiences of 20 participants were classified into five main themes: Receiving Diagnosis, Interactions with Healthcare Professionals (HCPs, excluding GCs), Medical Care, Information, and Impact of Condition. Participants reported receiving diagnoses for their children in a sub-optimal manner due to inappropriate settings and insufficient information, support, and pre-test counseling. Parents reported feeling responsible for managing their child's complex and fragmented medical care. Participants reported insufficient empathy and little awareness of 22q11DS among HCPs. Participants perceived genetic counseling to be associated with family planning and reported delayed, if any, access to services. Mental health was a particular worry among participants. Conferences about 22q11DS are the main source of information for parents. Participants reported a range of emotions after diagnosis and described the family impact. The findings suggest both an association between HCPs' poor understanding of 22q11DS and the perceived lack of empathy from HCPs and fragmented medical care. There is an identified need for advocacy of the GC profession in Ireland to support these families. Increased awareness of 22q11DS among HCPs and the development of a coordinated care pathway for 22q11DS, with timely access to genetic counseling, may improve care and lead to better outcomes.

Attitudes toward offering genetic counseling for psychiatric conditions among genetics healthcare practitioners in the United Kingdom: A qualitative study.

Psychiatric conditions affect a large proportion of the population. High heritability estimates have been reported for commonly diagnosed conditions, suggesting both environmental factors and genetic variation significantly contribute to the chance of psychiatric outcomes. Despite growing interest in the provision and receipt of genetic counseling services for these conditions, such specialized interventions are not routinely available in most healthcare systems, including in the United Kingdom (UK). This study examined the attitudes of fourteen National Health Service employed genetic counselors and clinical geneticists, from seven regional genetic centers, toward offering psychiatric genetic counseling (PGC) in the UK. A qualitative methodology was adopted and individual semi-structured interviews were conducted either by telephone or face-to-face, audio recorded, transcribed in full and analyzed using thematic analysis. Participants' attitudes were organized under three themes: "Demand," "Readiness to Provide Support," and "Patient Experience." Participants cited key informational and resource needs which included increased workforce capacity, access to further psychological support for patients and more knowledge about the following: specific genes involved, available genetic testing, recurrence/occurrence risk figures, clinical manifestations, diagnostic criteria, patient concerns associated with the impact of psychiatric conditions and interpersonal skills. While some participants appreciated the value of PGC, some reported apprehension and raised concerns around a lack of available genetic testing, the perceived utility of current management options, and a potential negative psychological impact of PGC. This study identified important barriers to the delivery of PGC in the UK by genetics healthcare practitioners. Our findings highlight the importance of a collaborative, multidisciplinary approach to delivering this intervention and the need for additional training. Further research is required to better understand demand for, nature of, and barriers to provision of PGC in the UK, particularly in terms of genetic counselors' perceptions of their role.

Further validation and psychometric properties of the Spanish adaptation of the Genetic Counseling Outcome Scale.

Evaluation of clinical genetic services is challenging due to the nature of their interventions. The Genetic Counseling Outcome Scale (GCOS-24), a patient-reported outcome measure, was developed to measure empowerment, an important patient-reported outcome from genetic counseling. Previously, we translated and adapted GCOS-24 for use in Spain, but neither test-retest reliability nor structural and construct validity were assessed at that time. In the present study, we set out to test the reliability and validity of the Spanish adaptation of the GCOS-24 against already validated Spanish language measures of satisfaction with life, anxiety, and health locus of control. 880 patients/families who attended the genetics clinic were invited to participate in a online survey. 201 participants (23%) completed the four questionnaires at the first timepoint, and 59 of these (29%) completed GCOS-24 again the second timepoint, 2-4 weeks later. Test-retest reliability was confirmed, with no significant differences between responses to GCOS-24 at the first and second timepoints and good internal consistency. Convergent validity was confirmed between GCOS-24 and measures of satisfaction with life and anxiety but not with measures of health locus of control. For the structural and construct validation, an exploratory factor analysis was performed. The resulting factorial structure of GCOS-24 consists of 6 factors that accumulate 68% of the variance shared by the 21 items that remained in the model. We applied the factor structure of the three validated measures to the available data and analyzed the correlation between factors of GCOS-24 and the other scales. The results showed significant and consistent correlation with factors of the satisfaction with life and anxiety scales but no significant correlation with internal health locus of control. The use of the Spanish adaptation of GCOS-24 in other genetic clinics in Spain will help to validate it further. This study contributes to the international validation of GCOS-24 to evaluate the quality of genetic counseling in Europe.

Assessing sensitivity to change of the genomics outcome scale (GOS).

The Genetic Counseling Outcome Scale (GCOS-24) is a 24-item patient-reported outcome measure (PROM) that was developed to evaluate genetic counseling and testing services by measuring the construct of empowerment. The Genomics Outcome Scale (GOS) is a 6-item version of GCOS-24 that was designed to provide a PROM for use both within and outside clinical genetics services and reduce respondent burden. However, unlike GCOS-24, the sensitivity to change of the GOS has not yet been assessed in appropriate clinical settings. We carried out pre- and post-clinic surveys using the GOS to assess sensitivity to change of the GOS and produce before-and-after GOS data as part of a service evaluation. The survey was sent to patients attending the genetic counseling clinic for a first appointment at the All Wales Medical Genetic Service from 8 April 2019 to 18 September 2019. Patients attending disease management clinics, where genetic issues were not the primary concern, were excluded from this study. A total of 138 respondents were included in the final analysis. The result shows that empowerment scores, measured using the GOS, were significantly higher (p<0.05) after clinic attendance. The GOS shows good sensitivity to change, with a medium-to-large effect size (Cohen's d = 0.73). The result also shows that the service is delivering measurable benefits for its service users.

Evaluating empowerment in genetic counseling using patient-reported outcomes.

Data about patient reported outcomes from cancer genetics services (CGS) are lacking but are essential to guide service evaluation and improvements. We measured improvement in empowerment, following genetic counseling in Singapore using a culturally-adapted version of the Genetic Counseling Outcome Scale (GCOS-24); and sought to identify factors associated with change in empowerment. The GCOS-24 was administered to 155 patients of the CGS, at pre- and post-counseling or testing timepoints. Of which, 110 patients underwent genetic testing. Individual pre- and post-counseling responses were subjected to Rasch analysis; the scale was subsequently split into cognitive control (CC) and emotional control (EC) domains. Associations of baseline characteristics with changes in pre- and post-CC and EC scores were assessed using multiple regression analysis. Both CC and EC scores showed significant improvement following genetic counseling and testing. While all items in the CC domain of being showed increases at follow-up, aspects of EC related to alleviating negative emotions (P = .88) and hopelessness (P = .2) did not show significant improvement. Our study revealed significant improvement in empowerment in patients who have received cancer genetic counseling, while revealing a need to cultivate hope and facilitate the alleviation of negative emotions in patients during genetic counseling.

Establishing the minimum clinically important difference for the Genetic Counseling Outcome Scale (GCOS-24).

To establish the smallest change in genetic counseling outcome that is meaningful for patients, the aim of this study was to establish the Minimum Clinically Important Difference (MCID) for the Genetic Counseling Outcome Scale (GCOS-24). GCOS-24 is a patient-reported outcome measure for clinical genetics services. Secondary aims included understanding what patients deem important for reaching this score. Participants were 74 new patients recruited from the All Wales Medical Genetics Service, between April 2016 and December 2016. An anchor-based, global transition question methodology was used to identify the MCID, by asking participants how much meaningful change they experienced following their genetics appointment, and comparing this with GCOS-24 change scores. This ensured that the established score was clinically meaningful to patients. Comments from a free text response box were analyzed using qualitative thematic analysis. The mean score of the group who felt "a little better" was determined to be the MCID. The MCID was established to be a GCOS-24 score increase of 10.3 points after a clinical genetics appointment. This score was significantly different from the group "neutral" (0.64 points), using an independent samples t test. Themes identified as important for reaching the MCID included "future and family". These findings contribute to interpretability of GCOS-24 and provide some useful insights for genetic counseling service development.

Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain.

The aim in this study was to translate and cross-culturally adapt the Genetic Counseling Outcome Scale (GCOS-24) for use in Spain and to carry out a preliminary psychometric validation in a sample of Spanish patients. With oversight by an expert panel, forward and backward translations were conducted to create the draft Spanish GCOS-24. Fourteen patients were recruited from a clinical genetics service in Madrid, Spain, to participate in cognitive interviews designed to explore readability and interpretability of the draft. Following qualitative analysis of interview transcripts, a final version of the Spanish GCOS-24 was agreed with the expert panel. No significant cross-cultural differences were identified. The Spanish GCOS-24 was then completed prior to and 2-4 weeks after genetic counseling by 59 patients attending the service, and data were analysed using analysis of variance. Preliminary psychometric validation of the Spanish GCOS-24 showed significantly higher GCOS-24 scores after genetic counseling (p < 0.0001), with good internal consistency (α = 0.84) and sensitivity to change over time, with a medium-to-large size effect (Cohen's d = 0.70). This compares well with the original English language GCOS-24. Findings demonstrate that the Spanish GCOS-24 has potential for use in evaluating clinical genetics services in Spain, but would benefit from assessment of test-retest reliability as well as structural and construct validity.

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.

PURPOSE: Broadening access to genomic testing and counseling will be necessary to realize the benefits of personalized health care. This study aimed to assess the feasibility of delivering a standardized genomic care model for inherited retinal dystrophy (IRD) and of using selected measures to quantify its impact on patients. METHODS: A pre-/post- prospective cohort study recruited 98 patients affected by IRD to receive standardized multidisciplinary care. A checklist was used to assess the fidelity of the care process. Three patient-reported outcome measures-the Genetic Counselling Outcome Scale (GCOS-24), the ICEpop CAPability measure for Adults (ICECAP-A), and the EuroQol 5-dimension questionnaire (EQ-5D)-and a resource-use questionnaire were administered to investigate rates of missingness, ceiling effects, and changes over time. RESULTS: The care model was delivered consistently. Higher rates of missingness were found for the genetic-specific measure (GCOS-24). Considerable ceiling effects were observed for the generic measure (EQ-5D). The ICECAP-A yielded less missing data without significant ceiling effects. It was feasible to use telephone interviews for follow-up data collection. CONCLUSION: The study highlighted challenges and solutions associated with efforts to standardize genomic care for IRD. The study identified appropriate methods for a future definitive study to assess the clinical effectiveness and cost-effectiveness of the care model.Genet Med advance online publication 02 March 2017.

Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark.

Outcome measurement in clinical genetics is challenging. Robust outcome measures are needed to provide evidence to support service development within genetic counseling. The Genetic Counselling Outcome Scale (GCOS-24), a Patient Reported Outcome Measure (PROM), was developed in English and validated with clinical genetics patients in the British NHS. This study reports the translation and adaptation of the GCOS-24 for use in Denmark. GCOS-24 was translated and back translated, supervised by an expert committee. Feedback on the first version was collected from genetic counseling patients in qualitative interviews focusing on instructions for use, response options and specific items considered semantically difficult. After further adjustment the adapted and translated version was administered to a second sample of patients, with responses analyzed using descriptive statistics. Eighteen interviews were conducted, and led to adjustment of item wording. Sixty-one patients completed the final version GCOS-24dk. Internal consistency is good (Cronbach's α =0.79), with an acceptable number of missing responses and no floor or ceiling effect observed. GCOS-24 has been successfully translated and adapted for use in a Danish setting. The study confirms the feasibility of local adaptation of patient reported outcome measures and stresses the importance of adaptation, even across quite similar populations and health care systems.

Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study.

International advocacy of patient-centred healthcare delivery has led to emphasis on the (re)design and evaluation of healthcare processes and outcomes from a patient perspective. Patient-reported outcome measures (PROMs) have significant potential to inform such attempts. However there is limited understanding of the processes by which this can be achieved. This exploratory study followed attempts to utilise two different PROMs measures to support service quality improvement in clinical genetics. PROMs used were the Genetic Counseling Outcome Scale (GCOS-24), a well-validated clinical genetics-specific PROM and Euroqol (EQ-5D), a generic PROM favoured by the UK National Institute for Health and Excellence (NICE). Both of these PROMs enable pre/post intervention comparison. A service audit tool was also used, premised on a patient-reported experience measure. In addition, the study draws on interviews with clinical staff to identify challenges associated with the use of PROMs (response rate, data collection, analysis). Benefits are also explored and include the provision of insight into patients' needs; complementing clinical judgement; identification of needs being met, evidencing the benefit of services provided; prompting consideration of areas requiring attention; and encouraging professional development.

Training Genetic Counsellors to Deliver an Innovative Therapeutic Intervention: their Views and Experience of Facilitating Multi-Family Discussion Groups.

Innovations in clinical genetics have increased diagnosis, treatment and prognosis of inherited genetic conditions (IGCs). This has led to an increased number of families seeking genetic testing and / or genetic counselling and increased the clinical load for genetic counsellors (GCs). Keeping pace with biomedical discoveries, interventions are required to support families to understand, communicate and cope with their Inherited Genetic Condition. The Socio-Psychological Research in Genomics (SPRinG) collaborative have developed a new intervention, based on multi-family discussion groups (MFDGs), to support families affected by IGCs and train GCs in its delivery. A potential challenge to implementing the intervention was whether GCs were willing and able to undergo the training to deliver the MFDG. In analysing three multi-perspective interviews with GCs, this paper evaluates the training received. Findings suggests that MFDGs are a potential valuable resource in supporting families to communicate genetic risk information and can enhance family function and emotional well-being. Furthermore, we demonstrate that it is feasible to train GCs in the delivery of the intervention and that it has the potential to be integrated into clinical practice. Its longer term implementation into routine clinical practice however relies on changes in both organisation of clinical genetics services and genetic counsellors' professional development.

Experiences of Women Who Underwent Predictive BRCA 1/2 Mutation Testing Before the Age of 30.

This qualitative interview study focuses on the experiences of a sample of British female BRCA 1/2 carriers who had predictive testing before the age of 30, which is the minimum age for breast screening in the UK. Following appropriate informed consent procedures participants were recruited through the Cancer Genetics Service for Wales. Semi-structured interviews were conducted face-to-face with seven participants, transcribed in full and analyzed using thematic analysis. The motives for testing and perceived advantages described by participants were similar to those identified in previous studies with older participants, such as increased awareness and knowledge and feeling more in control. However some of the perceived disadvantages were specific to younger women, including feeling pressured to make important life decisions earlier than they would have liked, such as about family planning and risk reducing surgery. Participants also reported feeling abandoned or forgotten because of lack of ongoing clinical contact, or feeling "stuck waiting" for screening to begin. However, none felt that these disadvantages were a reason to regret having testing. Findings in this small study suggest that having BRCA 1/2 predictive testing can have positive outcomes for young women even though they may be unable to access interventions such as breast screening. However it may be helpful to encourage young women during pre-test counseling to explore the decisions and choices they may face. These young women could benefit from ongoing support and follow up and increased interaction with healthcare professionals.

Family Communication in Inherited Cardiovascular Conditions in Ireland.

Over 100,000 individuals living in Ireland carry a mutated gene for an inherited cardiac condition (ICC), most of which demonstrate an autosomal dominant pattern of inheritance. First-degree relatives of individuals with these mutations are at a 50 % risk of being a carrier: disclosing genetic information to family members can be complex. This study explored how families living in Ireland communicate genetic information about ICCs and looked at the challenges of communicating information, factors that may affect communication and what influence this had on family relationships. Face to face interviews were conducted with nine participants using an approved topic guide and results analysed using thematic analysis. The participants disclosed that responsibility to future generations, gender, proximity and lack of contact all played a role in family communication. The media was cited as a source of information about genetic information and knowledge of genetic information tended to have a positive effect on families. Results from this study indicate that individuals are willing to inform family members, particularly when there are children and grandchildren at risk, and different strategies are utilised. Furthermore, understanding of genetics is partially regulated not only by their families, but by the way society handles information. Therefore, genetic health professionals should take into account the familial influence on individuals and their decision to attend genetic services, and also that of the media.

Conceptualising patient empowerment: a mixed methods study.

BACKGROUND: In recent years, interventions and health policy programmes have been established to promote patient empowerment, with a particular focus on patients affected by long-term conditions. However, a clear definition of patient empowerment is lacking, making it difficult to assess effectiveness of interventions designed to promote it. The aim in this study was to develop a conceptual map of patient empowerment, including components of patient empowerment and relationships with other constructs such as health literacy, self-management and shared decision-making. METHODS: A mixed methods study was conducted comprising (i) a scoping literature review to identify and map the components underpinning published definitions of patient empowerment (ii) qualitative interviews with key stakeholders (patients, patient representatives, health managers and health service researchers) to further develop the conceptual map. Data were analysed using qualitative methods. A combination of thematic and framework analysis was used to integrate and map themes underpinning published definitions of patient empowerment with the views of key UK stakeholders. RESULTS: The scoping literature review identified 67 articles that included a definition of patient empowerment. A range of diverse definitions of patient empowerment was extracted. Thematic analysis identified key underpinning themes, and these themes were used to develop an initial coding framework for analysis of interview data. 19 semi-structured interviews were conducted with key stakeholders. Transcripts were analysed using the initial coding framework, and findings were used to further develop the conceptual map. The resulting conceptual map describes that patient empowerment can be conceived as a state ranging across a spectrum from low to high levels of patient empowerment, with the level of patient empowerment potentially measurable using a set of indicators. Five key components of the conceptual map were identified: underpinning ethos, moderators, interventions, indicators and outcomes. Relationships with other constructs such as health literacy, self-management and shared decision-making are illustrated in the conceptual map. CONCLUSION: A novel conceptual map of patient empowerment grounded in published definitions of patient empowerment and qualitative interviews with UK stakeholders is described, that may be useful to healthcare providers and researchers designing, implementing and evaluating interventions to promote patient empowerment.

Valuing the economic benefits of complex interventions: when maximising health is not sufficient.

Complex interventions, involving interlinked packages of care, challenge the application of current methods of economic evaluation that focus on measuring only health gain. Complex interventions may be problematic on two levels. The complexity means the intervention may not fit into one of the current appraisal systems, and/or maximising health is not the only objective. This paper discusses the implications of a programme of work that focused on clinical genetics services, as an example of a complex intervention, and aimed to identify the following: the attributes that comprise both health and non-health aspects of benefits and whether it is possible to evaluate such an intervention using current National Institute for Health and Clinical Excellence appraisal processes. Genetic services and tests are a good example of a complex intervention and have broader objectives than just health gain, which may usefully be measured using the concept related to capability, which we have called 'empowerment'. Further methodological work is required to identify the trade-off between non-health (empowerment) and health benefits for other complex interventions. We do not advocate a move away from QALY maximisation but do suggest that there is a need for a more considered approach that can take account of the perceived value for non-health attributes for some complex interventions.

The perceived personal control (PPC) questionnaire: reliability and validity in a sample from the United Kingdom.

Outcome measures are important assessment tools to evaluate clinical genetics services. Research suggests that perceived personal control (PPC) is an outcome valued by clinical genetics patients and clinicians. The PPC scale was developed in Hebrew to capture three dimensions of PPC: Cognitive, decisional, and behavioral control. This article reports on the first psychometric validation of the English translation of the PPC scale. Previous research has shown that the Hebrew and Dutch translations have good psychometric properties. However, the psychometric properties of the English translation have not been tested, and there is disagreement about the factor structure, with implications for how to score the measure. A total of 395 patients attending a clinical genetics appointment in the United Kingdom completed several measures at baseline, and a further 241 also completed measures at 2-4 weeks follow-up. The English language PPC has (a) a one-factor structure, (b) convergent validity with internal health locus of control (IHLC), satisfaction with life (SWL), depression, and authenticity, (c) high internal consistency (α = 0.83), and (d) sensitivity to change, being able to identify moderate changes in PPC following clinic attendance (Cohen's d = 0.40). These properties suggest the English language PPC measure is a useful tool for both clinical genetics research and for use as a Patient Reported Outcome Measure (PROM) in service evaluation.

Patient empowerment: the need to consider it as a measurable patient-reported outcome for chronic conditions.

BACKGROUND: Health policy in the UK and elsewhere is prioritising patient empowerment and patient evaluations of healthcare. Patient reported outcome measures now take centre-stage in implementing strategies to increase patient empowerment. This article argues for consideration of patient empowerment itself as a directly measurable patient reported outcome for chronic conditions, highlights some issues in adopting this approach, and outlines a research agenda to enable healthcare evaluation on the basis of patient empowerment. DISCUSSION: Patient empowerment is not a well-defined construct. A range of condition-specific and generic patient empowerment questionnaires have been developed; each captures a different construct e.g. personal control, self-efficacy/self-mastery, and each is informed by a different implicit or explicit theoretical framework. This makes it currently problematic to conduct comparative evaluations of healthcare services on the basis of patient empowerment. A case study (clinical genetics) is used to (1) illustrate that patient empowerment can be a valued healthcare outcome, even if patients do not obtain health status benefits, (2) provide a rationale for conducting work necessary to tighten up the patient empowerment construct (3) provide an exemplar to inform design of interventions to increase patient empowerment in chronic disease. Such initiatives could be evaluated on the basis of measurable changes in patient empowerment, if the construct were properly operationalised as a patient reported outcome measure. To facilitate this, research is needed to develop an appropriate and widely applicable generic theoretical framework of patient empowerment to inform (re)development of a generic measure. This research should include developing consensus between patients, clinicians and policymakers about the content and boundaries of the construct before operationalisation. This article also considers a number of issues for society and for healthcare providers raised by adopting the patient empowerment paradigm. SUMMARY: Healthcare policy is driving the need to consider patient empowerment as a measurable patient outcome from healthcare services. Research is needed to (1) tighten up the construct (2) develop consensus about what is important to include (3) (re)develop a generic measure of patient empowerment for use in evaluating healthcare (4) understand if/how people make trade-offs between empowerment and gain in health status.

Shock, adjust, decide: reproductive decision making in cystic fibrosis (CF) carrier couples--a qualitative study.

Cystic fibrosis (CF) is the most common recessive condition affecting the White British population. Facilitating reproductive decision making for couples at genetic risk for CF is an important aspect of genetic counseling practice in the UK. The purpose of this study was to explore the reproductive decision making process for 31 members of CF carrier couples (15 men and 16 women) with or without an affected child. The design involved a qualitative approach consisting of semi-structured interviews and data analysis informed by grounded theory methodology. Sex and personal experience of CF were identified as factors that may influence reproductive decision making. Findings suggest these hypotheses: (1) CF carrier couples who have an affected child/pregnancy, are more likely to embark on another pregnancy than couples who have a healthy child from an at-risk pregnancy, and (2) men and women play different roles in the reproductive decision making process. Data analysis resulted in development of a structured framework modeling the reproductive decision making process, which may be helpful in guiding genetic counseling with CF carrier couples and other at risk couples making reproductive decisions.