Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the health status of populations, identify disadvantaged or at risk population groups and thereby inform health policy and priority setting. Critical to achieving health improvements for the underserved population of people living with rare diseases is early diagnosis and best care.

Initiating an undiagnosed diseases program in the Western Australian public health system.

Background: New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates.

3-Dimensional Facial Analysis-Facing Precision Public Health.

Precision public health is a new field driven by technological advances that enable more precise descriptions and analyses of individuals and population groups, with a view to improving the overall health of populations. This promises to lead to more precise clinical and public health practices, across the continuum of prevention, screening, diagnosis, and treatment. A phenotype is the set of observable characteristics of an individual resulting from the interaction of a genotype with the environment.

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.

Background: The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical genetic care for 28 years and it serves a population of 2.5 million people across a geographical area of 2.

Knowledge, understanding, and uptake of noninvasive prenatal testing among Latina women.

Objective: The aim of this study is to assess Latina patient understanding of noninvasive prenatal testing (NIPT) and identify what factors influence uptake/refusal to NIPT to adapt counseling to the needs and interests of this population.

Methods: Mixed-methods survey in English and Spanish administered to pregnant Latina patients throughout pregnancy.

Results: Sixty-three women participated in our study (67% response rate); 34.

The decision to continue a pregnancy affected by Down syndrome: timing of decision and satisfaction with receiving a prenatal diagnosis.

In order to provide the best genetic counseling possible for women who learn of a diagnosis of Down syndrome prenatally, we sought to assess the timing of the decision to continue a pregnancy and the satisfaction these women had with learning this information. Fifty-six mothers of children with Down syndrome diagnosed prenatally between 2007 and 2010 completed a survey regarding their experience with decision-making after prenatal diagnosis. Approximately one third (17/56) of participants reported they knew before getting pregnant that they would not terminate for any reason, and almost half of the participants (24/56) reported they did not decide to continue their pregnancy until after the diagnosis.

Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities.

The objective of this study was to identify variables that may influence the decision to terminate or continue a pregnancy affected by a chromosome abnormality. We performed a retrospective cohort analysis of 286 pregnancies diagnosed with a chromosome abnormality following genetic counseling and prenatal diagnosis. Data obtained included procedure type, chromosome results, ethnicity, maternal age, use of fertility treatments, and uptake of genetic counseling after results, among other factors.

Nurse manager orientation.

On the basis of the principles of management and leadership, our organization has worked over the years to formalize the orientation program for new nurse managers. This program meets the needs of new nurse managers and responds to today's complex health care system needs. This article describes the components of a nurse manager orientation program for the novice nurse manager and methods for evaluating nurse manager effectiveness.

Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA.

A patient whose dysmorphism at birth was not diagnostic for Pallister-Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array-based comparative genomic hybridization of peripheral blood DNA. He was determined to be mosaic for 46,XY,trp(12)(p11.2 --> p13) in cultured skin fibroblasts.

Medical humanities and cultural studies: lessons learned from an NEH Institute.

In this essay, the directors of an NEH Institute on "Medicine, Literature, and Culture" consider the lessons they learned by bringing humanities scholars to a teaching hospital for a month-long institute that mingled seminar discussions, outside speakers and clinical observations. In an exchange of letters, they discuss the productive tensions inherent in approaching medicine from multiple perspectives, and they argue the case for a broader conception of medical humanities that incorporates the methodologies of cultural studies.

Troubled units: creating change.

Your unit may be in trouble. Are conversations among team members authentic or do real conversations happen in the hallways after the meeting? Are staff afraid of voicing their disagreements for fear of being labeled, while other team members complacently agree to a consensus, then go off and work from their own agenda? Some units have fallen into the habit of disrespectful communication and uncaring behaviors toward team members. The impact this has on staff, units, and organizations can be deleterious.

Humanities education at Pennsylvania State University College of Medicine, Hershey, Pennsylvania.

The Department of Humanities at Pennsylvania State University's (Penn State) College of Medicine, created at the founding of the College in 1967, was the first of its kind at any medical school. This article begins by describing how the department has developed over the years, and then discusses its present configuration, including kinds of faculty appointments, information about how it is funded, specific courses that comprise the department's four-year curriculum, and activities it sponsors. That a College of Medicine would make the teaching and practice of humanistic medicine a major and explicit commitment attracted the notice of Drs.