Recontact: a survey of current practices and BRCA1/2 testing in Japan.

Genetic testing advances have enabled the provision of previously unavailable information on the pathogenicity of genetic variants, frequently necessitating the recontact of former patients by clinicians. In Japan, national health insurance coverage was extended to BRCA1/2 testing for the diagnosis of hereditary breast and ovarian cancer for patients who meet certain criteria in 2020, and conditions necessitating recontact were expected to increase. Studies and discussions regarding recontact have been conducted in the U.

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board.

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.

Advances in genomic medicine are improving diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. The issue of recontacting is becoming more important with increased integration of genomics in 'mainstream' medicine. Empirical evidence is needed to advance the discussion over whether and how recontacting should be implemented.

Beyond individualism: Is there a place for relational autonomy in clinical practice and research?

The dominant, individualistic understanding of autonomy that features in clinical practice and research is underpinned by the idea that people are, in their ideal form, independent, self-interested and rational gain-maximising decision-makers. In recent decades, this paradigm has been challenged from various disciplinary and intellectual directions. Proponents of 'relational autonomy' in particular have argued that people's identities, needs, interests - and indeed autonomy - are always also shaped by their relations to others.

Recontacting in clinical practice: the views and expectations of patients in the United Kingdom.

This paper explores the views and expectations of patients concerning recontacting in clinical practice. It is based on 41 semi-structured interviews conducted in the United Kingdom. The sample comprised patients or parents of patients: without a diagnosis; recently offered a test for a condition or carrier risk; with a rare condition; with a variant of unknown significance - some of whom had been recontacted.

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom.

This article explores the views and experiences of healthcare professionals and clinical scientists in genetics about the existence of a duty and/or responsibility to recontact former patients when the genetic information relevant to their health, or that of family members, changes in a potentially important manner. It is based on N=30 semi-structured interviews guided by vignettes of recontacting scenarios. The sample included healthcare professionals in the United Kingdom from different medical specialties (clinical genetics, other 'mainstream' specialties now offering genetic testing), and scientists from regional genetics laboratories.

Changes in diagnosis rates and behavioural traits of autism spectrum disorder over time.

Background: The increased proportion of UK children diagnosed with autism spectrum disorder (ASD) has been attributed to improved identification, rather than true increase in incidence.

Aim: To explore whether the proportion of children with diagnosis of ASD and/or the proportion with associated behavioural traits had increased over a 10-year period.

Method: A cross-cohort comparison using regression to compare prevalence of diagnosis and behavioural traits over time.

Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom.

Purpose: To ascertain whether and how recontacting occurs in the United Kingdom.

Method: A Web-based survey was administered online between October 2014 and July 2015. A link to the survey was circulated via an e-mail invitation to the clinical leads of the United Kingdom's 23 clinical genetics services, with follow-up with senior clinical genetics staff.

Evaluating the consent preferences of UK research volunteers for genetic and clinical studies.

Objectives: To establish the views of research volunteers on the consent process; to explore their views on the consent process in different research scenarios; to inform debate on emerging models of consent for participation in research.

Design, Setting And Participants: 2,308 adult volunteers from the TwinsUK Registry (www.twinsuk.

Autobiologies on YouTube: Narratives of Direct-to-Consumer Genetic Testing.

Despite a growing personal genomics market, little is known about how people engage with the possibilities offered by direct-to-consumer (DTC) genetic testing. In order to help address this gap, this study deploys narrative analysis of YouTube videos posted by individuals who have purchased DTC genetic testing for disease. Genetic testing is said to be contributing to new states of illness, where individuals may become "patients-in-waiting.

Public viewpoints on new non-invasive prenatal genetic tests.

Prenatal screening programmes have been critiqued for their routine implementation according to clinical rationale without public debate. A new approach, non-invasive prenatal diagnosis (NIPD), promises diagnosis of fetal genetic disorders from a sample of maternal blood without the miscarriage risk of current invasive prenatal tests (e.g.

Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market.

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling.

Diagnosis as a social determinant: the development of prosocial behaviour before and after an autism spectrum diagnosis.

Jutel and Nettleton (2011) discuss diagnosis as not only a major classification tool for medicine but also an interactive social process that itself may have ramifications for health. Consideration of diagnosis as a social determinant of health outcomes led to the formulation of our research question: Can we detect a change in the development of prosocial symptoms before and after an Autism Spectrum Disorder (ASD) diagnosis? We examined the developmental trajectory of prosocial skills of children, as impairment in social skills is given as a core symptom for children with ASD. We used a validated scale measuring prosocial behaviour for a sample of 57 children where the measure was repeatedly recorded over ten years.

Primitive reflexes associated with delirium: a prospective trial.

Background: The presence of primitive reflexes (PRs) may have diagnostic or prognostic value in the evaluation of cognitive impairment.

Objective: We hypothesized that the presence of preoperative PRs would predict the development of postoperative delirium and that the emergence of PRs postoperatively would be positively associated with the emergence of delirium.

Methods: Patients participating in a larger study on the prophylaxis of postoperative delirium were evaluated for the presence of six PRs (grasp reflex [left and right], palmomental reflex [left and right], glabellar tap, and snout reflex), preoperatively and postoperatively.

Individual risk profiles for postoperative delirium after joint replacement surgery.

Background: Delirium occurs in nearly half of older patients after joint replacement surgery. However, risk profiles for developing delirium have not been established.

Objective: We sought to identify risk profiles for delirium in patients following joint replacement surgery.

Administration of olanzapine to prevent postoperative delirium in elderly joint-replacement patients: a randomized, controlled trial.

Background: Delirium is a serious postoperative condition for which few pharmacologic prevention trials have been conducted.

Objective: The authors tested the efficacy of perioperative olanzapine administration to prevent postoperative delirium in elderly patients after joint-replacement surgery.

Method: The authors conducted a randomized, double-blind, placebo-controlled, prophylaxis trial at an orthopedic teaching hospital, enrolling 495 elderly patients age ≥65 years, who were undergoing elective knee- or hip-replacement surgery; 400 patients received either 5 mg of orally-disintegrating olanzapine or placebo just before and after surgery.

Choosing not to choose: reproductive responses of parents of children with genetic conditions or impairments.

Parents of children with genetic conditions or impairments stand in a unique position with regard to choices and dilemmas posed by prenatal screening and testing options offered to at-risk parents as a means to a 'healthy' baby. This article reports the results of a qualitative study of parents whose children are clients of a state-wide rural genetic outreach programme in the US. The analysis seeks to connect the lived experience of parents of children with genetic conditions or impairments to choices with which women are confronted as prenatal testing technologies continue to proliferate.

Eliciting goals of care in a nursing home.

Objectives: To identify enablers and barriers facing providers and staff in initiating Goals of Care (GOC) discussions with patients in the nursing home.

Design: Qualitative methods, one-on-one interviews. The interviews began with eliciting the participant's definition of GOC.

Eliciting Goals of Care in a nursing home.

Objectives: To identify enablers and barriers facing providers and staff in initiating Goals of Care (GOC) discussions with patients in the nursing home.

Design: Qualitative methods, one-on-one interviews. The interviews began with eliciting the participant's definition of GOC.

Public bioethics and publics: consensus, boundaries, and participation in biomedical science policy.

Public bioethics bodies are used internationally as institutions with the declared aims of facilitating societal debate and providing policy advice in certain areas of scientific inquiry raising questions of values and legitimate science. In the United States, bioethical experts in these institutions use the language of consensus building to justify and define the outcome of the enterprise. However, the implications of public bioethics at science-policy boundaries are underexamined.

Barriers to care-seeking for children's oral health among low-income caregivers.

Objectives: We identified psychosocial, structural, and cultural barriers to seeking dental care among nonutilizing caregivers of Medicaid-enrolled children.

Methods: We used Medicaid utilization records to identify utilizing and nonutilizing African American and White caregivers of Medicaid-enrolled children in Jefferson County, Kentucky. We conducted 8 focus groups (N=76) with a stratified random sample of responding caregivers; transcripts were qualitatively analyzed.

Measuring the hydraulic conductivity of shallow submerged sediments.

The hydraulic conductivity of submerged sediments influences the interaction between ground water and surface water, but few techniques for measuring K have been described with the conditions of the submerged setting in mind. Two simple, physical methods for measuring the hydraulic conductivity of submerged sediments have been developed, and one of them uses a well and piezometers similar to well tests performed in terrestrial aquifers. This test is based on a theoretical analysis that uses a constant-head boundary condition for the upper surface of the aquifer to represent the effects of the overlying water body.