Daniele Carrieri

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.

Recontacting in clinical genetics and genomic medicine? We need to talk about it

THE PROBLEM An editorial in the AJMG,1 which accompanied the first systematic review conducted on the topic,2 suggested that advances in nextgeneration sequencing technologies and the volume of genomic information they deliver are leading clinicians to consider recontacting former patients. Examples might be: (a) to discuss whether more sensitive testing could now provide a diagnosis or health prediction, which had not previously been possible; (b) to review the evidence for particular genetic findings playing a part in the patient’s disease; or (c) to revise the interpretation of a genetic variant previously identified. As the Otten et al.2 systematic review shows, there is a perceived need for guidance in this area. However, it is not clear whether a standard protocol or consensus guidelines are necessary, or indeed whether a duty to recontact exists at all.

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.

'Care under pressure': A realist review of interventions to tackle doctors' mental ill-health and its impacts on the clinical workforce and patient care.

Introduction Mental ill-health is prevalent across all groups of health professionals and this is of great concern in many countries. In the UK, the mental health of the National Health Service (NHS) workforce is a major healthcare issue, leading to presenteeism, absenteeism and loss of staff from the workforce. Most interventions targeting doctors aim to increase their ‘productivity’ and ‘resilience’, placing responsibility for good mental health with doctors themselves and neglecting the organisational and structural contexts that may have a detrimental effect on doctors’ well-being. There is a need for approaches that are sensitive to the contextual complexities of mental ill-health in doctors, and that do not treat doctors as a uniform body, but allow distinctions to account for particular characteristics, such as specialty, career stage and different working environments. Methods and analysis Our project aims to understand how, why and in what contexts support interventions can be designed to minimise the incidence of doctors’ mental ill-health. We will conduct a realist review—a form of theory-driven interpretative systematic review—of interventions, drawing on diverse literature sources. The review will iteratively progress through five steps: (1) locate existing theories; (2) search for evidence; (3) select articles; (4) extract and organise data and (5) synthesise evidence and draw conclusions. The analysis will summarise how, why and in what circumstances doctors’ mental ill-health is likely to develop and what can remediate the situation. Throughout the project, we will also engage iteratively with diverse stakeholders in order to produce actionable theory. Ethics and dissemination Ethical approval is not required for our review. Our dissemination strategy will be participatory. Tailored outputs will be targeted to: policy makers; NHS employers and healthcare leaders; team leaders; support organisations; doctors experiencing mental ill-health, their families and colleagues. PROSPERO registration number CRD42017069870.

Ethical issues and best practice in clinically based genomic research: Exeter Stakeholders Meeting Report

Current guidelines on consenting individuals to participate in genomic research are diverse. This creates problems for participants and also for researchers, particularly for clinicians who provide both clinical care and research to their patients. A group of 14 stakeholders met on 7 October 2015 in Exeter to discuss the ethical issues and the best practice arising in clinically based genomic research, with particular emphasis on the issue of returning results to study participants/patients in light of research findings affecting research and clinical practices. The group was deliberately multidisciplinary to ensure that a diversity of views was represented. This report outlines the main ethical issues, areas of best practice and principles underlying ethical clinically based genomic research discussed during the meeting. The main point emerging from the discussion is that ethical principles, rather than being formulaic, should guide researchers/clinicians to identify who the main stakeholders are to consult with for a specific project and to incorporate their voices/views strategically throughout the lifecycle of each project. We believe that the mix of principles and practical guidelines outlined in this report can contribute to current debates on how to conduct ethical clinically based genomic research.

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.

Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”

Discussion of a “duty to recontact” emerged as technological advances left professionals considering getting back in touch with patients they had seen in the past. While there has been much discussion of the duty to recontact as a matter of theory and ethics, there has been rather little empirically based analysis of what this “duty” consists of. Drawing on interviews with 34 professionals working in, or closely with, genetics services, this paper explores what the “duty to recontact” means for healthcare professionals involved in genetics. Using a discourse analytic framework, the paper identifies three system generated discourses on recontact (governance, legal and responsibilizing discourses) and three lifeworld discourses (situating recontact as a formal duty; more loosely as an obligation; and as a personal sense of responsibility). In summary, the paper shows that the “duty” to recontact involves a complex interplay of system responsibilities with professional duties, responsibilities and obligations.

Supporting Supportive Care in Cancer: The ethical importance of promoting a holistic conception of quality of life

Advances in anticancer therapies and increasing attention towards patient quality of life make Supportive Care in Cancer (SCC) a key aspect of excellence in oncological care. SCC promotes a holistic conception of quality of life encompassing clinical, ethical/existential, and spiritual dimensions. Despite the calls of international oncology societies empirical evidence shows that SCC has not yet been implemented. More efforts are needed given the clinical and ethical value of SCC not only for patients, but also for clinicians and hospitals. Drawing on different literature sources, we identify and discuss three important barriers to the implementation of SCC: 1) organisational - lack of adequate resources and infrastructures in over-stretched clinical environments, 2) professional- burnout of cancer clinicians; and 3) cultural - stigma towards death and dying. We add an ethical counselling framework to the SCC implementation toolkit- which, could offer a flexible and resource-light way of embedding SCC, addressing these barriers.

Disclosure Dilemmas: Ethics of Genetic Prognosis after the 'Right to Know/Not to Know' Debate Christoph Rehmann-Sutter & Hansjakob Muller (eds.) Ashgate 2009

This is the final version of the article. Available from Springer Open via the DOI in this record.