Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.

PURPOSE: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of vascular development resulting in direct connections between the arterial and venous systems, bypassing capillaries. Symptoms and signs can appear throughout life and marked intrafamilial variability confounds diagnosis based purely on clinical criteria. We set out to determine the impact of genetic testing on the cost of screening for HHT in at-risk relatives. METHODS: We performed economic modeling of idealized pedigrees following two scenarios: repeated clinical screening until an HHT diagnosis could be either affirmed or excluded, and mutation testing in the proband, followed by genetic testing of at-risk relatives and clinical monitoring of only those relatives who test positive for the familial mutation. RESULTS: Based on actual reimbursement data from our region's largest health insurer, the molecular diagnostic model saved over $22,000 for a family with four relatives at risk for the initial diagnostic work-up. For a cohort of 100 probands, the total savings for the molecular diagnostic model over a reasonable period of follow-up was greater than $9 million. CONCLUSION: In this idealized setting in which all probands and at-risk relatives accepted molecular testing, the economic advantages of genetic screening over repeated clinical screening are substantial.

When genetic screening is useful, but not used.

In families with genetic disorders due to a known genetic mutation, presymptomatic genetic testing can lead to early detection and treatment of inherited disorders that may manifest later in life. The health benefits for family members at increased risk, however, is limited by the predictive value of the genetic test, the availability of effective treatments, and individuals' and families' willingness to undergo genetic testing in the first place. This Issue Brief describes the case of a genetic condition for which genetic screening of family members is clearly useful, and just as clearly underused. It explores the barriers to the use of genetic screening and has implications for the future as genetic technologies become more complex and produce more uncertainty.

Self-surveillance by adolescents and young adults transitioning to self-management of a chronic genetic disorder.

Adolescents and young adults with Marfan syndrome (MFS) use information from self-surveillance to manage their disorder. Thirty-seven male and female adolescents with MFS aged 14 to 21 years were interviewed. They identified 58 distinct self-surveillance behaviors that fell into four categories and multiple subcategories (SCs): tracking phenotype (SCs: physical appearance, physical fitness, medical problems, and other observations); tracking medical care (SCs: medical evaluations and treatments, and pharmacotherapy); tracking behavior (SCs: personal choices and social relations); and tracking emotions (SCs: positive emotional impact and negative emotional impact). The frequency and range of self-monitoring increased with the age of the child. On average, a child of 14 self-monitored from 1 to 3 times per day, whereas a person aged 21 might self-monitor many more times per day. The patient-parent-physician relationship is the context for teaching adolescents and young adults self-surveillance skills. Self-surveillance by patients is first-line symptom assessment and an adjunct to medical monitoring.

Differences in the patterns of health care system distrust between blacks and whites.

CONTEXT: Although health care-related distrust may contribute to racial disparities in health and health care in the US, current evidence about racial differences in distrust is often conflicting, largely limited to measures of physician trust, and rarely linked to multidimensional trust or distrust. OBJECTIVE: To test the hypothesis that racial differences in health care system distrust are more closely linked to values distrust than to competence distrust. DESIGN: Cross-sectional telephone survey. PARTICIPANTS: Two hundred fifty-five individuals (144 black, 92 white) who had been treated in primary care practices or the emergency department of a large, urban Mid-Atlantic health system. PRIMARY MEASURES: Race, scores on the overall health care system distrust scale and on the 2 distrust subscales, values distrust and competence distrust. RESULTS: In univariate analysis, overall health care system distrust scores were slightly higher among blacks than whites (25.8 vs 24.1, p = .05); however, this difference was driven by racial differences in values distrust scores (15.4 vs 13.8, p = .003) rather than in competence distrust scores (10.4 vs 10.3, p = .85). After adjustment for socioeconomic status, health/psychological status, and health care access, individuals in the top quartile of values distrust were significantly more likely to be black (odds ratio = 2.60, 95% confidence interval = 1.03-6.58), but there was no significant association between race and competence distrust. CONCLUSIONS: Racial differences in health care system distrust are complex with far greater differences seen in the domain of values distrust than in competence distrust. This framework may be useful for explaining the mixed results of studies of race and health care-related distrust to date, for the design of future studies exploring the causes of racial disparities in health and health care, and for the development and testing of novel strategies for reducing these disparities.

Management of aortic disease in Marfan Syndrome: a decision analysis.

BACKGROUND: Marfan syndrome is a relatively common heritable disorder of connective tissue that affects numerous organ systems, but the most severe complication is aortic aneurysm and dissection. A variety of medical and surgical approaches are available for managing the cardiovascular complications. Our objective was to compare elective composite graft surgery, elective valve-sparing surgery, and medical management for patients with both Marfan syndrome and thoracic aortic disease on the basis of life expectancy with differing diameters of the aortic root and rate of increase in the aortic root size. METHODS: A Markov decision analysis model was constructed to compare the 2 surgical options with watchful waiting with medical therapy. RESULTS: For our base-case analysis of a 20-year-old patient with Marfan syndrome and thoracic aortic aneurysm, the aortic valve-sparing option was preferred. It extended life expectancy to 73.8 years compared with the medical treatment option (71.4 years) and with the composite graft surgery (72.7 years). Our results show that there is a better outcome for a patient with an aortic root diameter between 3.0 and 3.5 cm with early prophylactic surgery than with deferred or emergency surgery. Medical treatment was preferred when the aortic root diameter was smaller than 3.0 cm. CONCLUSIONS: Although long-term follow-up data are not yet available, it appears that advances in the technique of valve-sparing surgery have made it the preferred option to composite graft, primarily to avoid the complications of anticoagulation. Our study indicates that patients who have an aortic root diameter of larger than 3.0 cm should be considered for prophylactic aortic surgery.