Revitalizing personalized medicine: respecting biomolecular complexities beyond gene expression.

Despite recent advancements in "omic" technologies, personalized medicine has not realized its fullest potential due to isolated and incomplete application of gene expression tools. In many instances, pharmacogenomics is being interchangeably used for personalized medicine, when actually it is one of the many facets of personalized medicine. Herein, we highlight key issues that are hampering the advancement of personalized medicine and highlight emerging predictive tools that can serve as a decision support mechanism for physicians to personalize treatments.

Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival.

PURPOSE: We describe the prevalence, associated anomalies, prenatal diagnosis and survival of patients with bladder exstrophy-epispadias complex. MATERIALS AND METHODS: Data were extracted from the Northern Congenital Abnormality Survey for patients delivered during 1985 to 2008. This survey collects data on congenital anomalies in fetuses, stillbirths and live-born infants of mothers residing in Northern England (Northumberland, North Cumbria, Tyne and Wear Durham, Darlington and Teesside). RESULTS: A total of 43 cases were identified from 824,368 registered births for a total prevalence of 5.22 per 100,000 (95% CI 3.77-7.03). Excluding 1 twin with cloacal exstrophy, 42 cases occurred in singleton pregnancies. A total of 29 cases (69%) were isolated and 13 (31%) were associated with other anomalies, of which 11 (26%) were other structural and 2 (5%) were chromosomal. Male-to-female ratio was 2.2:1 for all singleton cases and 1.4:1 for isolated cases. Total prevalence of bladder exstrophy-epispadias complex singleton cases was 5.10 per 100,000 registered births (95% CI 3.67-6.89) and overall live birth prevalence was 4.63 per 100,000 live births (95% CI 3.28-6.36). Total prevalence of isolated cases of bladder exstrophy-epispadias complex was 3.52 per 100,000 births (95% CI 2.36-5.05) and live birth prevalence was 3.29 per 100,000 (95% CI 2.17-4.79). Accuracy of prenatal diagnosis was low, with 4 cases (10%) being detected prenatally by routine ultrasound (bladder exstrophy in 3, cloacal exstrophy in 1). Overall survival of all infants at 1 year was 95%. CONCLUSIONS: This population based study demonstrates a prevalence rate similar to other studies, a low prenatal diagnosis rate and high survival.

Prevalence, knowledge, attitude, and practice of epilepsy in Kerala, South India.

PURPOSE: To ascertain the prevalence and pattern of epilepsy and to characterize and quantify knowledge, attitude, and practice (KAP) toward epilepsy among the people of the state of Kerala, which is distinguished from the rest of India by a high level of literacy and health awareness of its population. METHODS: We conducted a door-to-door survey covering the entire population of 238,102 people residing in 43,681 households in a semiurban area of central Kerala. The screening questionnaire administered by medical social workers had a sensitivity of 100% for identifying persons with epilepsy. Neurologists examined all the individuals suspected of having epilepsy. We evaluated KAP toward epilepsy among 1,118 subjects (439 males and 679 females; mean age, 33.3 years; age range, 15-85 years) from households without epilepsy in the study area. RESULTS: Through a three-phased survey, we ascertained 1,175 cases (616 males and 559 females) with active epilepsy, providing a crude point prevalence ratio of 4.9 cases per 1,000 people and an age-adjusted prevalence ratio of 4.7 cases per 1,000 population. The highest age-specific prevalence rate of 6.5 per 1,000 occurred in the 10- to 19-year-old age group. Sex-specific prevalence rates did not significantly differ. The proportion of generalized and localization-related epilepsies was 58.8% and 30.6%, respectively. Ninety-nine percent of the KAP respondents had read or heard about epilepsy. Thirty-one percent and 27% thought epilepsy was a hereditary disorder and a form of insanity, respectively. About 40% of the respondents felt that individuals with epilepsy could not be properly educated or employed. Eleven percent would object to their children having contact with epileptic children. CONCLUSIONS: The prevalence and pattern of epilepsy in central Kerala, South India, do not differ from that of developed countries. Although the awareness of epilepsy among the people of Kerala was comparable to that of developed countries, the attitudes were much more negative. The need for educating the people of Kerala on epilepsy and for incorporating an adequate knowledge of epilepsy in the school curricula cannot be overemphasized.

A questionnaire survey about doctor-patient communication, compliance and locus of control among south Indian people with epilepsy.

To date, very few studies have investigated patients' views on the information they receive from the doctor concerning epilepsy and its management. Little information is available about the influence of doctor-patient communication and locus of control on the compliance of persons with epilepsy. We investigated, through a questionnaire-interview design, among patients attending the epilepsy clinic of a tertiary referral center in South India, their views about the provision of information by the doctor, and their compliance and locus of control. We also determined the interrelation between doctor-patient communication, compliance and locus of control. Our subjects comprised 200 adult persons with epilepsy, 113 males and 87 females, mean age 30.5 (range 18-67) years. Over one-third of the subjects received from the doctor insufficient information about epilepsy and its treatment. There was a significant positive correlation between effective doctor-patient communication and compliance. A majority of our patients had an external locus of control, which negatively influenced the compliance. Even in a comprehensive epilepsy clinic of a model tertiary referral center in a developing country, a significant proportion of patients do not receive optimal information about epilepsy from the doctor. Knowledge about their disease will encourage people with epilepsy to make informed choices, and achieve better compliance and personal control of their problems. Educating primary and secondary care physicians about the importance of doctor-patient communication in the management of epilepsy and educating the public about the positive aspects of life in epilepsy cannot be overemphasized.