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

Abstract

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.

Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

“…[24][25][26] Some families affected by Lynch syndrome in our jurisdiction have also suggested that prohibitive costs are a barrier to recommended colon cancer screening and ongoing risk management. 29 Beyond these direct costs, however, study findings revealed the breadth of perceived economic impact associated with ARVC, consistent with a recent systematic review that suggested that indirect costs were as burdensome for sufferers of rare diseases as direct costs. 25 Even unaffected participants can perceive significant economic burden.…”

A comparison between Lynch syndrome and sporadic colorectal cancer survivors’ satisfaction with their healthcare providers

“…Compared with the general population, MMR mutation carriers have a higher lifetime risk for several cancers; CRC risk ranges from 20 to 69% for men and 10 to 52% for women, with risks varying based on mutated gene [9][10][11][12][13]. Women with LS also have a 40-60% lifetime risk for developing endometrial cancer [2,3,8,14]. Individuals with LS are at increased risk for other malignancies, including ovarian, stomach, small bowel, hepatobiliary tract, pancreatic, urinary tract, brain, and skin cancers [3,8,14].…”

“…Study participants expressed higher levels of trust when physicians were both aware of their family history and recognized the importance of high‐risk cancer surveillance . These factors also influenced participation in recommended screening regimens . However, further research is needed to fully examine how patient trust can be effectively improved .…”

Sense of coherence and self-concept in Lynch syndrome

“…A history of psychosocial problems or depression has been found to correlate with increased anxiety and distress after genetic testing [12-14]. Also, coping style, external and internal factors such as personal resources, risk perception, social networks, interaction with health care providers and access to psychosocial support have been found to influence the ability to handle knowledge about an increased risk of cancer [15,16]. Though few studies have evaluated the long-term consequences of living with a high risk of cancer, a number of issues have been identified as challenging, e.g.…”

“…Individuals with a positive self-concept are more apt at enduring stressful situations as opposed to those with a more negative perception of the self [21]. Self-concept scales for different types of hereditary cancer have been developed [16,22-24]. The Lynch syndrome self-concept scale contains two subscales related to stigma and vulnerability and to gastrointestinal-related anxiety.…”