Christine Y. Way

Lynch syndrome: barriers to and facilitators of screening and disease management

BackgroundLynch syndrome is a hereditary cancer with confirmed carriers at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing decisions about disease management post-genetic testing.MethodsThe study used a grounded theory approach to data collection and analysis as part of a multiphase project examining the psychosocial and behavioral impact of predictive DNA testing for Lynch syndrome. Individual and small group interviews were conducted with individuals from 10 families with the MSH2 intron 5 splice site mutation or exon 8 deletion. The data from confirmed carriers (n = 23) were subjected to re-analysis to identify key barriers to and/or facilitators of screening and disease management.ResultsThematic analysis identified personal, health care provider and health care system factors as dominant barriers to and/or facilitators of managing Lynch syndrome. Person-centered factors reflect risk perceptions and decision-making, and enduring screening/disease management. The perceived knowledge and clinical management skills of health care providers also influenced participation in recommended protocols. The health care system barriers/facilitators are defined in terms of continuity of care and coordination of services among providers.ConclusionsIndividuals with Lynch syndrome often encounter multiple barriers to and facilitators of disease management that go beyond the individual to the provider and health care system levels. The current organization and implementation of health care services are inadequate. A coordinated system of local services capable of providing integrated, efficient health care and follow-up, populated by providers with knowledge of hereditary cancer, is necessary to maintain optimal health.

Hospital utilization, efficiency and access to care during and shortly after restructuring acute care in Newfoundland and Labrador.

Objectives Since the 1990s restructuring, including regionalization and downsizing, has largely been driven by a desire for cost containment. Regionalization, hospital closure and changes in management processes occurred in Newfoundland and Labrador (NL), Canada between 1995 and 2000. The objectives of the current study were: to describe trends in the utilization of acute care hospital services by residents of NL during and shortly after restructuring; to examine trends in the efficiency of utilization of acute care beds in the province during the same time frame; and to compare the trends in St Johns with the rest of the province, taking account of confounding events, in an attempt to understand the impact of aggregation of hospitals in this region. Methods Hospital discharge and day surgical data were analysed for all facilities in NL from 1995/96 to 2000/01. Analyses were by facility of service and also by region of residence directly standardized to the provincial population for 1996. Efficiency of bed utilization was examined on three occasions by concurrent utilization review using a modified version of the Appropriateness Evaluation Protocol. Trends in the St Johns region (where most tertiary services are located and greater aggregation of hospitals occurred) were compared with the rest of the province. Results Admissions declined by 14% in St Johns facilities and by 17% elsewhere. Inpatient days fell by 9% in St Johns and by 12% elsewhere. Average length of stay and Resource Intensity Weight changed little, apart from a rise in the final study year, with the largest change in St Johns. Standardized hospital admission rates declined by 10% and inpatient days by 5.6% for residents of St Johns region, and by 16% and 14% respectively for residents of other regions. There was no change over time in the use of day surgery. Efficiency of acute care bed use improved in 2002 in St Johns, but was unchanged in other regions. Use of acute care beds by elderly patients for extended stay, or when an alternate level of care would have been appropriate, was greater in St Johns with the disparity persisting over time. Waiting time for continuing care in the StJohns region was unchanged comparing 1995/96 and 1999/00. Conclusions Regionalization in Newfoundland and Labrador facilitated aggregation of hospitals, but did not control the number of front-line workers and, consequently, total acute care expenditure. Expenditure increased significantly between1995 and 2002, at a rate which exceeded the increase in government revenues. The governments ability to pay for acute care will not be achieved unless employee costs are controlled or provincial income increases.

Health care provider outcomes during and shortly after acute care restructuring in Newfoundland and Labrador.

Objectives To monitor changes in human resource indicators during six years of restructuring in Newfoundland and Labrador, and to measure providers’ perceptions of reform impact and attitudinal and behavioural reactions comparing changes in the St Johns region, where hospital aggregation occurred, to other regions. Methods Data on human resource indicators from 1995/96 to 2001/02 were obtained and analysed. The Employee Attitude Survey was sent to acute care staff (n=5353) to assess perceptions of reform impact on workplace conditions, work-related attitudes, turnover intentions and personal characteristics. The response rate for 2000 and 2002 was approximately 42% (n=1222 and 1034, respectively). Only respondents to both surveys (n=589) were used in the analysis. Results Increases in average employee and full-time equivalent numbers occurred in the St Johns region, despite hospital closure and aggregation. Increases in staff dislocation and turnover were observed, but paid sick hours decreased. Sick leave and overtime costs increased. Although perceived workplace conditions, and attitudes and behaviours were generally negative, there was evidence of improvement over time, especially in St Johns. Few significant regional or provider group differences were observed on most study variables. Conclusions Aggregation of hospitals in StJohns did not lead to a decrease in employee counts, or deterioration in human resource indicators or attitudes. However, province-wide initiatives are needed to promote more positive work environments and increase organizational effectiveness.

Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome.

A cross‐sectional study of 155 participants who underwent genetic testing for Lynch syndrome (LS) examined long‐term psychosocial and behavioral outcomes. Participants completed standardized measures of perceived risk, psychosocial functioning, knowledge, and a questionnaire of screening activities. Participants were on average 47.3 years and had undergone testing a mean of 5.5 years prior. Eighty four (54%) tested positive for a LS mutation and 71 (46%) negative. For unaffected carriers, perceived lifetime risk of colorectal cancer was 68%, and surprisingly, 40% among those testing negative. Most individuals demonstrated normative levels of psychosocial functioning. However, 25% of those testing negative had moderate depressive symptoms, as measured by the Center for Epidemiologic Studies for Depression Scale, and 31% elevated state anxiety on the State‐Trait Anxiety Inventory. Being female and a stronger escape – avoidant coping style were predictive of depressive symptoms. For state anxiety, similar patterns were observed. Quality of life and social support were significantly associated with lower anxiety. Carriers maintained higher knowledge compared to those testing negative, and were more engaged in screening. In summary, most individuals adapt to genetic test results over the long term and continue to engage in screening. A subgroup, including some non‐carriers, may require added psychosocial support.

Qualitative Research in Clinical Epidemiology

This chapter has been written to specifically address the usefulness of qualitative research for the practice of clinical epidemiology. The methods of grounded theory to facilitate understanding of human behavior and construction of monitoring scales for use in quantitative studies are discussed. In end-stage renal disease patients receiving long-term hemodialysis, a qualitative study used grounded theory to generate a multilayered classification system, which culminated in a substantive theory on living with end-stage renal disease and hemodialysis. The qualitative database was revisited for the purpose of scale development and led to the Patient Perception of Hemodialysis Scale (PPHS). The quantitative study confirmed that the PPHS was psychometrically valid and reliable and supported the major premises of the substantive theory.

Instrument Refinement: The Patient’s Perception of Life on Hemodialysis Scale

The objective of this study is to refine the Patient’s Perception of Hemodialysis Scale and data quality and refine the Patient’s Perception of Life on Hemodialysis Scale (PPHS). Collecting data from a convenient sample (N = 236), data were collected and a cross-sectional design survey design was used. Item inclusion was based on the item’s theoretical underpinning, examination of data quality, findings from a multi-trait/multi-item correlation matrix, and criteria for item and scale characteristics. Data indicators were close to normal in terms of distribution. High and low statistics suggest that the entire scope of the characteristic being measured were experienced. All criteria related to this examination supported the inclusion/exclusion of remaining items and subscales. Subscales are able to measure the main concepts. Findings from this research have been analyzed, and the PPHS now includes five subscales (36 items) and is deemed a valid indicator of the hemodialysis patients’ perceptions of life. Nephrology nurses will be able to assess the patient’s illness and treatment experience, their perception of formal social supports, adjustment to life on hemodialysis, and design interventions.

Psychometric properties of the Patient's Perception of Life on Hemodialysis Scale.

Background and Purpose: Hemodialysis (HD) is the main form of renal replacement therapy for many patients with end-stage renal disease. The purpose of this research is to assess reliability and validity of the Patient’s Perception of Hemodialysis Scale. Methods: Using a cross-sectional design and a convenient sample (n = 236), psychometric properties of the PPHS were examined. Validity was assessed using factor analysis and Pearson’s correlation. Reliability was determined using Cronbach’s alpha and test–retest stability (n = 30). Results: Validity and reliability was supported. Conclusion: Examination of the PPHS provides evidence that it is a valid and reliable instrument for measuring disease-specific concerns with the HD patients, assessing how people experience life, and identifying ways in which people interpret the meaning of their physical and psychosocial health and adaptation to life on HD.

Development and preliminary testing of the psychosocial adjustment to hereditary diseases scale

BackgroundThe presence of Lynch syndrome (LS) can bring a lifetime of uncertainty to an entire family as members adjust to living with a high lifetime cancer risk. The research base on how individuals and families adjust to genetic-linked diseases following predictive genetic testing has increased our understanding of short-term impacts but gaps continue to exist in knowledge of important factors that facilitate or impede long-term adjustment. The failure of existing scales to detect psychosocial adjustment challenges in this population has led researchers to question the adequate sensitivity of these instruments. Furthermore, we have limited insight into the role of the family in promoting adjustment.MethodsThe purpose of this study was to develop and initially validate the Psychosocial Adjustment to Hereditary Diseases (PAHD) scale. This scale consists of two subscales, the Burden of Knowing (BK) and Family Connectedness (FC). Items for the two subscales were generated from a qualitative data base and tested in a sample of 243 participants from families with LS.ResultsThe Multitrait/Multi-Item Analysis Program-Revised (MAP-R) was used to evaluate the psychometric properties of the PAHD. The findings support the convergent and discriminant validity of the subscales. Construct validity was confirmed by factor analysis and Cronbach’s alpha supported a strong internal consistency for BK (0.83) and FC (0.84).ConclusionPreliminary testing suggests that the PAHD is a psychometrically sound scale capable of assessing psychosocial adjustment. We conclude that the PAHD may be a valuable monitoring tool to identify individuals and families who may require therapeutic interventions.

Hereditary non-polyposis colorectal cancer: barriers to and facilitators of screening and disease management

Background Hereditary non-polyposis colorectal cancer (HNPCC) is a hereditary cancer syndrome in which confirmed carriers of a gene mutation are at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing the decision-making of confirmed HNPCC carriers post-genetic testing about screening and disease management. Methods The study used a grounded theory approach to data collection and analysis as part of a multiphase project examining the psychosocial and behavioral impact of genetic counselling and DNA testing for HNPCC on individuals in high risk families with the MSH2 intron 5 splice site mutation or exon 8 deletion. The data from confirmed carriers (n=23) were subjected to re-analysis for the purpose of identifying key barriers to and/or facilitators of effective screening and disease management. Results Thematic analysis identified personal, health care provider and health care system as the dominant barriers to and facilitators of screening and disease management. Person-centered barriers/facilitators included (1) risk perceptions and decision-making and, (2) enduring screening/disease management. Provider barriers/facilitators were defined in terms of participant perceptions of physician awareness of the family history of HNPCC, knowledge of the disease and recommended screening/ treatment protocols, and clinical management skills. The health care system barriers/facilitators were defined in terms of continuity of care and coordination of services among different providers. Conclusions Individuals at high risk for HPNCC-related cancers often encounter multiple barriers to and facilitators of screening and disease management that go beyond the individual and family to the provider and health care system levels. The current organization and implementation of health care services for clients who are at high genetic risk of developing cancer is inadequate. A coordinated system of local services capable of providing integrated, efficient health care and follow-up, populated by health care providers with knowledge of inherited cancer, is necessary to maintain optimal health in these families.

Development and testing of the Hereditary Diseases and Genetic Testing (HD-GT) scale

Background Despite the expanding research base on the genetic testing process, limited insight exists on how personal understandings of hereditary cancer as well as situational and contextual factors influence an individual’s decisionmaking prior to and following predictive testing for hereditary non-polyposis colorectal cancer (HNPCC). The failure of existing scales to detect psychosocial and behavioral difficulties in this population has led researchers to question the adequate sensitivity of these instruments. The purpose of this study was to develop and validate measures for evaluating the preparedness for and experiences during and following predictive testing for HNPCC.