Valuations of Genetic Test Information for Treatable Conditions: The Case of Colorectal Cancer Screening

BackgroundThe value of the information that genetic testing services provide can be questioned for insurance-based health systems. The results of genetic tests oftentimes may not lead to well-defined clinical interventions; however, Lynch syndrome, a genetic mutation for which carriers are at an increased risk for colorectal cancer, can be identified through genetic testing, and meaningful health interventions are available via increased colonoscopic surveillance. Valuations of test information for such conditions ought to account for the full impact of interventions and contingent outcomes.ObjectivesTo conduct a discrete-choice experiment to elicit individuals’ preferences for genetic test information.MethodsA Web-enabled discrete-choice experiment survey was administered to a representative sample of US residents aged 50 years and older. In addition to specifying expenditures on colonoscopies, respondents were asked to make a series of nine selections between two hypothetical genetic tests or a no-test option under the premise that a relative had Lynch syndrome. The hypothetical genetic tests were defined by the probability of developing colorectal cancer, the probability of a false-negative test result, privacy of the result, and out-of-pocket cost. A model specification identifying necessary interactions was derived from assumptions of risk behavior and the decision context and was estimated using random-parameters logit.ResultsA total of 650 respondents were contacted, and 385 completed the survey. The monetary equivalent of test information was approximately $1800. Expenditures on colonoscopies to reduce mortality risks affected valuations. Respondents with lower income or who reported being employed significantly valued genetic tests more.ConclusionGenetic testing may confer benefits through the impact of subsequent interventions on private individuals.     

Temporal Informative Analysis in Smart-ICU Monitoring: M-HealthCare Perspective

The rapid introduction of Internet of Things (IoT) Technology has boosted the service deliverance aspects of health sector in terms of m-health, and remote patient monitoring. IoT Technology is not only capable of sensing the acute details of sensitive events from wider perspectives, but it also provides a means to deliver services in time sensitive and efficient manner. Henceforth, IoT Technology has been efficiently adopted in different fields of the healthcare domain. In this paper, a framework for IoT based patient monitoring in Intensive Care Unit (ICU) is presented to enhance the deliverance of curative services. Though ICUs remained a center of attraction for high quality care among researchers, still number of studies have depicted the vulnerability to a patient’s life during ICU stay. The work presented in this study addresses such concerns in terms of efficient monitoring of various events (and anomalies) with temporal associations, followed by time sensitive alert generation procedure. In order to validate the system, it was deployed in 3 ICU room facilities for 30 days in which nearly 81 patients were monitored during their ICU stay. The results obtained after implementation depicts that IoT equipped ICUs are more efficient in monitoring sensitive events as compared to manual monitoring and traditional Tele-ICU monitoring. Moreover, the adopted methodology for alert generation with information presentation further enhances the utility of the system.     

Effect of treatment on systolic time intervals in systemic arterial hypertension

Twenty-six hypertensive patients and 25 control subjects were studied, and their systolic time intervals (STI) were measured. It was found that an alteration in STI, signifying left ventricular dysfunction, sets in most of the hypertensives earlier than any evidence of left ventricular hypertrophy (LVH) by clinical, radiological or electrocardiographic criteria. The parameters affected are the PEP interval which shows prolongation and PEP/LVET ratio which is increased. After treatment, the left ventricular performance was found to improve in those who did not reveal evidence of LVH. Thus, STI may be a sensitive indicator of early left ventricular dysfunction in hypertensives and a useful guide to assess improvement after treatment at a stage when other non-invasive methods are not so useful.     

Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations

BACKGROUND & AIMS: Tropical calcific pancreatitis (TCP) is a chronic pancreatitis unique to developing countries in tropical regions. The cause of TCP is obscure. Whereas environmental factors, such as protein energy malnutrition and ingestion of cassava, have been implicated, a genetic predisposition to the disease also may be important. In the present study we report on mutations in the serine protease inhibitor, Kazal type 1 (SPINK1) gene in north Indian patients with TCP. METHODS: We studied 66 unrelated TCP patients (44 men, 49 with diabetes, and 6 with family history of TCP), 25 relatives, and 92 healthy control subjects. Samples were analyzed for SPINK1 variants (-53C>T, L14P, N34S, P55S, and 272T>C) and cationic trypsinogen (PRSS1) variants (A16V, K23R, N29I, and R122H) by melting curve analysis. RESULTS: Twenty-nine patients (44%) carried the N34S missense mutation, of whom 9 (14%) were homozygotes. In contrast, only 2 (2.2%) control subjects were N34S heterozygotes (prevalence ratio 20.2; 95% confidence interval 5.0-81.8; P < 0.0001 vs. TCP). The severity of pancreatitis did not differ between TCP patients with or without N34S, or among those heterozygous or homozygous for N34S. Among TCP patients with or without diabetes, the frequency of N34S carriers (43% vs. 47%) and N34S homozygotes (14% vs. 12%) was similar. CONCLUSIONS: TCP is highly associated with the SPINK1 N34S mutation. The high prevalence of N34S in TCP patients with and without diabetes suggests that these 2 subtypes have a similar genetic predisposition. The genetic predisposition to TCP resembles, at least in part, the idiopathic chronic pancreatitis found in industrialized countries.     

Improving the prevention and management of chronic disease in low-income and middle-income countries: a priority for primary health care

The burden of chronic diseases, such as heart disease, cancer, diabetes, and mental disorders is high in low-income and middle-income countries and is predicted to increase with the ageing of populations, urbanisation, and globalisation of risk factors. Furthermore, HIV/AIDS is increasingly becoming a chronic disorder. An integrated approach to the management of chronic diseases, irrespective of cause, is needed in primary health care. Management of chronic diseases is fundamentally different from acute care, relying on several features: opportunistic case finding for assessment of risk factors, detection of early disease, and identification of high risk status; a combination of pharmacological and psychosocial interventions, often in a stepped-care fashion; and long-term follow-up with regular monitoring and promotion of adherence to treatment. To meet the challenge of chronic diseases, primary health care will have to be strengthened substantially. In the many countries with shortages of primary-care doctors, non-physician clinicians will have a leading role in preventing and managing chronic diseases, and these personnel need appropriate training and continuous quality assurance mechanisms. More evidence is needed about the cost-effectiveness of prevention and treatment strategies in primary health care. Research on scaling-up should be embedded in large-scale delivery programmes for chronic diseases with a strong emphasis on assessment.