Mirjam Plantinga

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Purpose:With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a duty to recontact eligible patients when new genetic information becomes available and, if such duties exist, how they might be implemented in practice.Methods:We report the results of a systematic literature search on the ethical, legal, social (including psychological), and practical issues involved in recontacting former patients who received genetic services. We identified 1,428 articles, of which 61 are covered in this review.Results:The empirical evidence available indicates that most but not all patients value being recontacted. A minority of (older) articles conclude that recontacting should be a legal duty. Most authors consider recontacting to be ethically desirable but practically unfeasible. Various solutions to overcome these practical barriers have been proposed, involving efforts of laboratories, clinicians, and patients.Conclusion:To advance the discussion on implementing recontacting in clinical genetics, we suggest focusing on the question of in what situations recontacting might be regarded as good standard of care. To this end, reaching a professional consensus, obtaining more extensive empirical evidence, and developing professional guidelines are important.Genet Med 17 8, 668–678.

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of [euro ]75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.

Training healthcare professionals as moral case deliberation facilitators: evaluation of a Dutch training programme

Until recently, moral case deliberation (MCD) sessions have mostly been facilitated by external experts, mainly professional ethicists. We have developed a train the facilitator programme for healthcare professionals aimed at providing them with the competences needed for being an MCD facilitator. In this paper, we present the first results of a study in which we evaluated the programme. We used a mixed methods design. One hundred and twenty trained healthcare professionals and five trainers from 16 training groups working in different healthcare organisations throughout the Netherlands were included. After completion of the programme, participants feel sufficiently confident and equipped to facilitate an MCD session. Feeling competent does not mean that participants have no doubts or questions left. Rather, they are aware of their limitations and see the need for continuous learning. According to the respondents, the actual exercise of facilitating MCD during and in between the training sessions contributed most to the development of competences necessary for being an MCD facilitator. Respondents without prior experience of participating in MCD sessions felt less competent after the training than those who had participated in MCD sessions before. Self-attributed competence varied between participants with different professional backgrounds.

Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

Next-generation sequencing enabled us to create a population-based expanded carrier screening (ECS) test that simultaneously tests for 50 serious autosomal recessive diseases. Before offering this test universally, we wanted to know what factors are related to intended participation and how the general public can be informed about the test without being influenced in their intention to participate. We studied this by measuring to what extent ‘message framing’ and ‘narrative information’ can influence people’s intended participation. Data were collected by means of an online survey of 504 potential users, and the factors examined were based on the Theory of Planned Behaviour and on previous research on intended participation in preconception carrier screening. Message framing was manipulated by explaining the risk of couple carriership in different ways, while narrative information was provided to only half of the respondents. The factors most positively related to intended participation were perceiving benefits of the screening, having a positive attitude towards the screening, having no religion, having an actual child wish and experiencing the choice to participate as easy. Perceived benefits and a positive attitude were most influential factors by far. Message framing and narrative information had no significant effect on intended participation, reinforcing that message framing and narrative information can help to inform the general public about ECS without influencing their intended participation. Future research should study if the importance of perceived benefits and a positive attitude can be replicated when other factors are included and when actual participation is measured instead of intended participation.

Assessment and Treatment of Pain during Treatment of Buruli Ulcer

Background Buruli ulcer (BU) is described as a relatively painless condition; however clinical observations reveal that patients do experience pain during their treatment. Knowledge on current pain assessment and treatment in BU is necessary to develop and implement a future guideline on pain management in BU. Methodology A mixed methods approach was used, consisting of information retrieved from medical records on prescribed pain medication from Ghana and Benin, and semi-structured interviews with health care personnel (HCP) from Ghana on pain perceptions, assessment and treatment. Medical records (n = 149) of patients treated between 2008 and 2012 were collected between November 2012 and August 2013. Interviews (n = 11) were audio-taped, transcribed verbatim and qualitatively analyzed. Principal Findings In 113 (84%) of the 135 included records, pain medication, mostly simple analgesics, was prescribed. In 48% of the prescriptions, an indication was not documented. HCP reported that advanced BU could be painful, especially after wound care and after a skin graft. They reported not be trained in the assessment of mild pain. Pain recognition was perceived as difficult, as patients were said to suppress or to exaggerate pain, and to have different expectations regarding acceptable pain levels. HCP reported a fear of side effects of pain medication, shortage and irregularities in the supply of pain medication, and time constraints among medical doctors for pain management. Conclusions Professionals perceived BU disease as potentially painful, and predominantly focused on severe pain. Our study suggests that pain in BU deserves attention and should be integrated in current treatment.

Best Practices in Reintegration Services: Analysing Modes of Contracting in the Dutch Private Reintegration Market

Over the last decade, many of the Western welfare states have found themselves under pressure to reform due to both exogenous factors, such as globalization and the ageing of society, and endogenous factors, such as a shift in focus from welfare to workfare. An important aspect of these reforms concerns the introduction of processes of privatization. One of the elements of the welfare state that has been subject to privatization is the provision of reintegration services. The Dutch reintegration market is regarded as a prototype of this form of privatisation. During the last five years, the Dutch reintegration market has been investigated extensively. What we know from this research is that the privatisation of reintegration services has gone hand in hand with many problems. At the same time success stories have been identified. However a clear understanding of the factors that have contributed to these successes is still lacking. Since the outcomes of reintegration services are influenced by many factors, such as labour market conditions, client motivation and client ability it is, however, very difficult to demonstrate to what extent reintegration services have contributed to the outcome. The quality of reintegration services is therefore difficult to measure on the basis of outcome measures alone, which might make output-based contracting inadequate. In this paper, we will argue that for a proper functioning of a private reintegration market the understanding and application of good contracting is essential. This entails more than just examining the design of the contracts, but also includes the comprehensive analysis of monitoring and enforcement of contracts. The goal of this paper is to identify some theoretical starting points for the safeguarding of public values during the process of delivering social services through private actors and the consequences this may have for identifying best practices.

Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents

Healthcare professionals (HCPs) regularly face requests from parents for predictive genetic testing of children for adult-onset conditions. Little is known about how HCPs handle these test requests, given that guidelines recommend such testing is deferred to adulthood unless there is medical benefit to testing before that time. Our study explored the process of decision-making between HCPs and parents. Semi-structured interviews were conducted with 34 HCPs in 8 regional genetic services across the UK, and data were thematically analysed. We found that instead of saying ‘yes’ or ‘no’ to such requests, many HCPs framed the consultation as an opportunity to negotiate the optimal time of testing. This, they argued, facilitates parents’ considered decision-making, since parents’ eventual decisions after requesting a test was often to defer testing their child. In cases where parents’ requests remained a sustained wish, most HCPs said they would agree to test, concluding that not testing would not serve the child’s wider best interest. As a strategy for determining the child’s best interest and for facilitating shared decision-making, we recommend that HCPs re-frame requests for testing from parents as a discussion about the optimal time of testing for adult-onset disease.

Public Governance in the Dutch Welfare State: The Consequences of Privatisation for Securing Public Interests in the History of the Dutch Welfare State

Since the foundation of the Dutch welfare state in the nineteenth century, the distinction between government and market has been object of discussion. In the first welfare arrangements, the role of the government was subsidiary to that of private initiatives. The churches looked after the poor and the employers and employees developed funds to cover employment related risks. The main idea was that state regulation should not stand in the way of these private initiatives. During the twentieth century the government increased its role in the provision of welfare. The public welfare state reached its peak at the end of the twentieth century. Currently, the Dutch welfare state is confronted with a process of privatisation. We witness the development of a regulatory welfare state.Discussions regarding the optimal mix between public and private elements in the welfare state have played an important role in the design of the Dutch welfare state up until today. Although nowadays the government is the most important provider of social security benefits, private elements are introduced by the privatisation of, for example, the reintegration market and employment related risks. The idea behind this process of privatisation is that it makes private actors more aware of the costs involved with illness and inactivity, which induces them to take preventive measures. In other words, the introduction of private elements in the welfare state is believed to increase the effectiveness and efficiency of the system. The shift in balance from government to market does, however, raise questions with regard to the extent to which other public interests are secured. For example, to what extent is the solidarity between employees with a high and low risk of getting ill guaranteed?The consequences of the development of the regulatory welfare state for the securing of public interests are the object of this research. We investigated the development of the Dutch welfare sector into a regulatory welfare state and the public interests that justified the intervention of the government. The question we want to answer is whether or not the regulatory welfare state is capable of securing these public interests.One of the results of our research is that the development of the welfare state is based on conflicting public interests. The public interest that dominates the debate, changes over the years. In the early years of the welfare state, the realisation of income protection was an important public interest. Nowadays the effectiveness and efficiency of public expenses, combined with a high value that is attached to labour participation, dominate government regulation.The development of the regulatory welfare state can be regarded as a response to this shift in public interests. Although in theory, the introduction of private elements in a formerly public welfare system does not have to impair the securing of a wide range of public interests, we show that that the regulatory welfare state is not fully capable of correcting the perverse effects of the private market.

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

Proximal 6q (6q11-q15) deletions are extremely rare and little is known about their phenotypic consequences. Since parents and caregivers now use social media to seek information on rare disorders, the Chromosome 6 Project has successfully collaborated with a Facebook group to collect data on individuals worldwide. Here we describe a cohort of 20 newly identified individuals and 25 literature cases with a proximal 6q deletion. Microarray results and phenotype data were reported directly by parents via a multilingual online questionnaire. This led to phenotype descriptions for five subregions of proximal 6q deletions; comparing the subgroups revealed that 6q11q14.1 deletions presented less severe clinical characteristics than 6q14.2q15 deletions. Gastroesophageal reflux, tracheo/laryngo/bronchomalacia, congenital heart defects, cerebral defects, seizures, and vision and respiratory problems were predominant in those with 6q14.2q15 deletions. Problems related to connective tissue (hypermobility, hernias and foot deformities) were predominantly seen in deletions including the COL12A1 gene (6q13). Congenital heart defects could be linked to deletions of MAP3K7 (6q15) or TBX18 (6q14.3). We further discuss the role of ten genes known or assumed to be related to developmental delay and/or autism (BAI3, RIMS1, KCNQ5, HTR1B, PHIP, SYNCRIP, HTR1E, ZNF292, AKIRIN2 and EPHA7). The most influential gene on the neurodevelopmental phenotype seems to be SYNCRIP (6q14.3), while deletions that include more than two of these genes led to more severe developmental delay. We demonstrate that approaching individuals via social media and collecting data directly from parents is a successful strategy, resulting in better information to counsel families.

New Modes of Governance in the Dutch Reintegration Market: Analyzing the Process of Contracting Out

Today many welfare states have undergone a transformation, and the focus of their efforts has shifted towards activating and enabling, where the promotion of labor participation is the principal aim. One of the components of the welfare state that has been subjected to a shift in governance is the provision of activation services, where the use of contracts as a governance tool has gained foothold. In the Dutch context, the contract has become a primary tool for realizing policy goals and safeguarding public interest, on the Dutch employment reintegration market. Moreover, in the Dutch context the tender documents are the cornerstone of the contractual relation that governs the delivery of employment reintegration services through private actors. One of the challenges the use of the market brings with it, relates to conveying preferences about how and which policy goals should be realized and under which conditions.The aim of this paper is to examine, in an exploratory fashion, how contractual relations between municipalities and service providers are shaped through the tender documents and contracts. Examining the service policy goals that are being formulated and under which conditions service should be delivered. In addition, we want to see how the operational responsibility is shaped in the contracts. The results show that while municipalities buy a wide variety of services, they opt to buy them in a modular fashion. Furthermore, much of the responsibility and decision-making prerogatives, in relation to service delivery, is kept in the hands of municipal case managers. Finally, in the specifications drawn up for service delivery there remains a strong focus on stipulating process requirements. Something that is reminiscent of more traditional governance arrangements.