Background The use of commercially available tests for genes linked to familial cancer has aroused concern about the impact of these tests on patients. Familial adenomatous polyposis is an autosomal dominant disease caused by a germ-line mutation of the adenomatous polyposis coli (APC ) gene that causes colorectal cancer if prophylactic colectomy is not performed. We evaluated the clinical use of commercial APC gene testing. Methods We assessed indications for APC gene testing, whether informed consent was obtained and genetic counseling was offered before testing, and the interpretation of the results through telephone interviews with physicians and genetic counselors in a nationwide sample of 177 patients from 125 families who underwent testing during 1995. Results Of the 177 patients tested, 83.0 percent had clinical features of familial adenomatous polyposis or were at risk for the disease — both valid indications for being tested. The appropriate strategy for presymptomatic testing was used in 79.4 p...

The use and interpretation of commercial APC gene testing for familial adenomatous polyposis.

Over 90 percent of health maintenance organizations (HMOs) use primary care physicians as gatekeepers,1 whose role is to authorize access to specialty, emergency, and hospital care and to diagnosti...

Gatekeeping revisited--protecting patients from overtreatment.

Objectives: To determine the rate of failure of patient reassurance after a normal test result and study the determinants of failure. Design: Replicated single case study with qualitative and quantitative data analysis. Setting: University teaching hospital. Subjects: 40 consecutive patients referred for echocardiography either because of symptoms (10 patients) or because of a heart murmur (30). 39 were shown to have a normal heart. Interventions: Medical consultations and semistructured patient interviews were tape recorded. Structured interviews with consultant cardiologists were recorded in survey form. Main outcome measures: Patient recall of the explanation and residual understanding, doubt, and anxiety about the heart after the test and post-test consultation. Results: All 10 patients presenting with symptoms were left with anxiety about the heart despite a normal test result and reassurance by the consultant. Of 28 patients referred because of a murmur but shown to have no heart abnormality, 20 became anxious after detection of the murmur; 11 had residual anxiety despite the normal test result. Conclusions: Reassurance of the “worried well”—anxious patients with symptoms or patients concerned by a health query resulting from a routine medical examination or from screening—constitutes a large part of medical practice. It seems to be widely assumed that explaining that tests have shown no abnormality is enough to reassure. The results of this study refute this and emphasise the importance of personal and social factors as obstacles to reassurance. Key messages Obstacles to reassurance relate not only to prob- lems of doctor-patient communication but also to the patient9s past experience and social circum- stances Because of the risk of residual anxiety and the epidemiological hazard of a false positive or incon- clusive test result, referral for the test should be avoided if an expert clinical opinion will suffice Clinical skills in recognising anxiety and identifying innocent murmurs should be rein- forced to minimise unnecessary referrals The consequences of possible residual doubt and anxiety must be factored into measurements of cost effectiveness of echocardiography and of other imaging technologies

Opening Pandora's box: the unpredictability of reassurance by a normal test result.

https://www.onlinecjc.ca/article/S0828-282X(10)70397-4/pdf

Coronary artery disease and myocardial infarction in pregnancy: A review of epidemiology, diagnosis, and medical and surgical management

number of total (minor and major) differences between the hand-carried and standard echocardiograph examinations was significantly greater than the inter-observer variability (14·3% vs 10·7%, P<0·05), however, major differences alone were not statistically different. For the colour Doppler assessment of regurgitation there was a significant difference between the devices for total (minor and major) differences, (40·0% vs 31·8%, P<0·007) however, the number of major differences is explained by inter-observer variability.

/pdf/rapid-assessment-of-cardiac-anatomy-and-function-with-a-new-1j1h655hsc.pdf

Rapid assessment of cardiac anatomy and function with a new hand-carried ultrasound device (OptiGo): a comparison with standard echocardiography.

Ischaemic heart disease is rare in young women but is expected to increase with increasing average age of child bearing. Diagnosis of myocardial ischaemia in this group is complicated by limited data about maternal and fetal safety of the standard diagnostic tests routinely used in other patients. Management of these patients remains difficult, as many standard treatments, such as beta-blockers and angiotensin converting enzyme inhibitors are pregnancy category C or D, and there is little experience with many of the newer treatments such as coronary artery stenting, clopidogrel and glycoprotein IIb/IIIa inhibitors in pregnancy. An interesting case of a woman, who had an acute myocardial infarction treated with thrombolysis and coronary artery stenting, and who subsequently became pregnant, is reported here, and other published reports regarding the management of coronary artery disease, both acute and chronic, in pregnant women are explored.

Management of ischaemic heart disease in women of child‐bearing age

The contribution of a non-invasive test to clinical care. The impact of echocardiography on diagnosis, management and patient anxiety.

Chest pain following coronary artery stenting is common, yet finding the cause can be difficult. Exercise testing has long been used in the assessment of chest pain, but its usefulness in patients who have recently undergone coronary artery stenting is in doubt. A case of exercise testing appearing to precipitate acute stent thrombosis in a patient several weeks post-coronary artery stenting is reported and compared to a similar case in the literature. The role of exercise testing in the assessment of chest pain early after coronary artery stenting is then reviewed.

Patricia Fox

Papers

Management of ischaemic heart disease in women of child‐bearing age

The contribution of a non-invasive test to clinical care. The impact of echocardiography on diagnosis, management and patient anxiety.

Coronary artery stent thrombosis associated with exercise testing.