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.S. and Europe; however, in Japan, the national discussion around recontact remains undeveloped. We conducted a cross-sectional study by interviewing 73 facilities accredited by the Japanese Organization of Hereditary Breast and Ovarian Cancer regarding the practice of recontacting patients at these facilities. Sixty-six facilities responded that they recontact patients, but only 17 facilities had a protocol for this. The most common reason for recontact was that it could benefit the patient. Facilities that did not recontact stated that they lacked the necessary personnel or services. Most facilities indicated that a recontact system should be implemented in their practice. The increased burden on too few medical personnel, unestablished systems, patient confusion, and the right not to know were cited as barriers to implementing recontact. Although developing recommendations on recontact would be useful for providing equitable healthcare in Japan, there is an urgent need to deepen the discussion on recontacting, as negative opinions about recontacting patients were observed.

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. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.

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. We administered a web-based survey to genetic services in European countries to collect information about existing infrastructures and practices relevant to recontacting patients. The majority of the centres stated they had recontacted patients to update them about new significant information; however, there were no standardised practices or systems in place. There was also a multiplicity of understandings of the term 'recontacting', which respondents conflated with routine follow-up programmes, or even with post-test counselling. Participants thought that recontacting systems should be implemented to provide the best service to the patients and families. Nevertheless, many barriers to implementation were mentioned. These included: lack of resources and infrastructure, concerns about potential negative psychological consequences of recontacting, unclear operational definitions of recontacting, policies that prevent healthcare professionals from recontacting, and difficulties in locating patients after their last contact. These barriers are also intensified by the highly variable development (and establishment) of the specialties of medical genetics and genetic counselling across different European countries. Future recommendations about recontacting need to consider these barriers. It is also important to reach an 'operational definition' that can be useful in different countries.

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. Yet, despite the pronounced and nuanced critique directed at an individualistic understanding of autonomy, this critique has had very little effect on ethical and legal instruments in clinical practice and research so far. In this article, we use four case studies to explore to what extent, if at all, relational autonomy can provide solutions to ethical and practical problems in clinical practice and research. We conclude that certain forms of relational autonomy can have a tangible and positive impact on clinical practice and research. These solutions leave the ultimate decision to the person most affected, but encourage and facilitate the consideration of this person's care and responsibility for connected 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. Participants were recruited both via the National Health Service (NHS) and through online, condition-specific support groups. Most respondents viewed recontacting as desirable, however there were different opinions and expectations about what type of new information should trigger recontacting. An awareness of the potential psychological impact of receiving new information led some to suggest that recontacting should be planned, and tailored to the nature of the new information and the specific situation of patients and families. The lack of clarity about lines of responsibility for recontacting and perceptions of resource constraints in the NHS tended to mitigate respondents' favourable positions towards recontacting and their preferences. Some respondents argued that recontacting could have a preventative value and reduce the cost of healthcare. Others challenged the idea that resources should be used to implement formalised recontacting systems - via arguments that there are 'more pressing' public health priorities, and for the need for healthcare services to offer care to new patients.

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. While viewing recontacting as desirable under certain circumstances, most respondents expressed concerns about its feasibility within the current constraints of the National Health Service (NHS). The main barriers identified were insufficient resources (time, staff, and suitable IT infrastructures) and lack of clarity about role boundaries and responsibilities. All of these are further complicated by genetic testing being increasingly offered by mainstream specialties. Reaching a consensus about roles and responsibilities of clinical specialties with regard to recontacting former patients in the light of evolving genetic information, and about what resources and infrastructures would be needed, was generally seen as a pre-requisite to developing guidelines about recontact.

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. RESULTS: The majority of UK services reported that they recontact patients and their family members. However, recontacting generally occurs in an ad hoc fashion when an unplanned event causes clinicians to review a file (a "trigger"). There are no standardized recontacting practices in the United Kingdom. More than half of the services were unsure whether formalized recontacting systems should be implemented. Some suggested greater patient involvement in the process of recontacting. CONCLUSION: This research suggests that a thorough evaluation of the efficacy and sustainability of potential recontacting systems within the National Health Service would be necessary before deciding whether and how to implement such a service or to create guidelines on best-practice models.Genet Med 18 9, 876-881.

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.ac.uk) completed an online survey about their views on the consent process for use of their DNA and medical information in research. Their views on the re-consenting process in different scenarios were assessed. RESULTS: The majority of volunteers preferred to be informed of the identity of the main researcher of a study in which they are participating, which is contrary to current practice. Over 80% were willing to complete the consent process online instead of face to face. On the whole, respondents did not view their DNA differently from their medical information with regard to the consent process. Research participants were more willing to give broad consent to cover future research if their DNA was to be used by the original researcher than by another researcher, even if the disease under investigation varied, in contrast to the traditional 'gold standard' whereby specific consent is required for all new research projects. DISCUSSION: In some scenarios, research participants reported that they would be comfortable with not signing a new consent form for future research uses of their data and DNA, and are comfortable with secure, online consent processes rather than traditional face-to-face consent processes. Our findings indicate that the perceived relationship between research participants and researchers plays an important role in shaping preferences regarding the consent process and suggest that this relationship is not captured by traditional consent processes. We argue that the development of new formats of consent should be informed by empirical research on volunteers' perceptions and preferences regarding the consent process.

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. Participants were children aged 7 years assessed in 1998/1999 (n=8139) and 2007/2008 (n=13 831). RESULTS: During 1998/1999, 1.09% (95% CI 0.86-1.37) of children were reported as having ASD diagnosis compared with 1.68% (95% CI 1.42-2.00) in 2007/2008: risk ratio (RR)=1.55 (95% CI 1.17-2.06), P=0.003. The proportion of children in the population with behavioural traits associated with ASD was also larger in the later cohort: RR=1.61 (95% CI 1.35-1.92), P<0.001. Increased odds of diagnosis at the later time point was partially accounted for by adjusting for the increased proportion of children with ASD-type traits. CONCLUSIONS: Increased ASD diagnosis may partially reflect increase in rates of behaviour associated with ASD and/or greater parent/teacher recognition of associated behaviours. DECLARATION OF INTEREST: None. COPYRIGHT AND USAGE: © The Royal College of Psychiatrists 2015. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) licence.

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." In the videos analyzed, we found a new form of storytelling about this ambiguous state of illness, which we refer to as autobiology. Autobiology - the study of, and story about, one's own biology - concerns narratives of sense-making through forms of biological practice, as well as wayfaring narratives which interweave genetic markers and family histories of disease. These autobiologies - part of a broader shift toward public stories about genetics and other healthcare technologies - exhibit playfulness, as well as being bound with consumerist practices.

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. amniocentesis). Little research has investigated the attitudes of wider publics to NIPD. This study used Q-methodology, which combines factor analysis with qualitative comments, to identify four distinct "viewpoints" amongst 71 UK men and women: 1. NIPD as a new tool in the ongoing societal discrimination against the disabled; 2. NIPD as a positive clinical application offering peace of mind in pregnancy; 3. NIPD as a medical option justified for severe disorders only; and 4. NIPD as a valid expansion of personal choice. Concerns included the "trivialisation of testing" and the implications of commercial/direct-to-consumer tests. Q-methodology has considerable potential to identify viewpoints and frame public debate about new technologies.

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. There has been no examination to date of this service provision, whether it meets critics' concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.

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. We plotted the developmental trajectory of the prosocial trait in this sample who were enrolled in a longitudinal birth cohort study based in South West England. Multi-factorial fixed effect modelling suggests that the developmental trajectory of this measure of behaviour was not significantly altered by ASD diagnosis, or the consequences of diagnosis, either for better or worse. Further analysis was conducted on a subset of 33 of the children who had both pre-diagnosis and post-diagnosis information, and the same result obtained. The results indicate that prosocial behaviours may be resistant to typical 'treatments': provision of educational and specialist health services triggered by a clinical ASD diagnosis. The implications of this for considering diagnosis as a social determinant are discussed.

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. The presence of PRs was then correlated with the development of delirium. RESULTS: Of the 79 patients studied, 29% (n = 23) developed delirium during the postoperative period. The preoperative presence of one PR did not predict the development of delirium, but the only patient with >1 PR preoperatively went on to develop delirium in the postoperative period. Similarly, having one frontal release sign in the postoperative period did not correlate with delirium, while the appearance of more than one PR was associated with a greater likelihood of delirium. Of the 11 patients who had two or more frontal release signs during one postoperative examination, six (55%) developed delirium. Of the five patients who showed three or more frontal release signs, 4 (80%) developed delirium. CONCLUSION: Our study is the first to investigate the relationship between the appearance of PRs and the development of delirium. We have provided some evidence that PRs are associated with acute CNS dysfunction.

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. METHOD: Based on data from a randomized, double-blind, placebo-controlled trial of olanzapine (10 mg) as delirium prophylaxis in 400 patients (67-81 years old) undergoing hip or knee replacement surgery, we performed a signal detection analysis to develop risk profiles for postsurgical delirium (using baseline patient characteristics, iatrogenic factors, and physiologic response parameters). RESULTS: Olanzapine reduced the incidence of delirium by 63% relative to placebo. Among patients receiving placebo, those with an ASA class = 3 and age ≥ 74 years had a 64% risk of delirium. Those with ASA class < 3 still had a 67% risk of delirium if postoperative oxygen saturation was < 95%. Patients who received olanzapine had an 83% risk of developing delirium if they received ≥ 42.5 mg equivalents of intra-operative morphine, were ≥ 74 years old, and had a mean arterial pressure (MAP) < 90 mm Hg at the presurgical screening visit. Patients with the lowest risk (6%) of developing delirium received olanzapine had a hematocrit ≥ 28%, and a presurgical MAP ≥ 90. CONCLUSION: Although use of prophylactic olanzapine reduced the incidence of delirium, subsets of patients remained likely to develop delirium. The risk of developing delirium may be reduced through prophylactic dispensation of olanzapine, maintaining optimal perfusion and oxygenation, and limiting intra-operative opioids.

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. The primary efficacy outcome was the incidence of (DSM-III-R) delirium. RESULTS: The incidence of delirium was significantly lower in the olanzapine group than in the placebo group; this held true for both knee- and hip-replacement surgery. However, delirium lasted longer and was more severe in the olanzapine group. Advanced age, a high level of medical comorbidity, an abnormal albumin level, and having knee-replacement surgery were independent risk factors for postoperative delirium (Clinicaltrials.gov Identifier: NCT000699946). CONCLUSION: Administration of 10 mg of oral olanzapine perioperatively, versus placebo, was associated with a significantly lower incidence of delirium. These findings suggest that olanzapine prophylaxis of postoperative delirium may be an effective strategy.

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. It reports the finding that a majority of parents in the study chose not to choose: avoiding future pregnancies, declining prenatal testing for subsequent pregnancies, or limiting testing to 'for information only'. These decisions do not reflect simple rejection of medical intervention, opposition to abortion, and/or affirmation of a positive parenting experience with an affected child. Rather, choosing to avoid the condition of choice appears to be a strategy of responsible parenting that emerges from ambivalence towards the options presented by reproductive technologies.