Experts reflecting on the duty to recontact patients and research participants; why professionals should take the lead in developing guidelines

Sequencing technology is increasing the scale of information that could benefit patients who have been tested in the past. This raises the question whether professionals have a duty to recontact such patients or their families. There is currently no clear basis for a legal duty to recontact, and professional guidelines are limited. We conducted interviews with 14 senior professionals from the Netherlands and UK to obtain a range of opinions on what obligations are estimated to be possible or desirable. There was (near) consensus that a lack of resources currently inhibits recontacting in clinical practice, that recontacting is less desirable in research, that information on recontacting should be part of informed consent, and that a legal duty should follow professional standards. There was a diversity of opinions on the desirability of a more systematic approach, potential obligations in hybrid clinical-research projects, and who should bear responsibility for seeking updates. Based on the literature, legal framework and these interviews, we conclude that a general duty to recontact is unlikely, but that in specific circumstances a limited duty may apply if the benefit to the individual is significant and the burden on professionals not too extensive. The variation in opinion demonstrates that further deliberations are desirable. The development of guidelines—a process the European Society of Human Genetics has begun—is important to ensure that the courts, in deciding a recontacting case, can take into account what professionals consider responsible standards in this field.     

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

PurposeWith 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.MethodsWe 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.ResultsThe 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.ConclusionTo 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 Med17 8, 668–678.     

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

PurposeTo ascertain whether and how recontacting occurs in the United Kingdom.MethodA 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.ResultsThe 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.ConclusionThis 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 light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives

A higher diagnostic yield from new diagnostic techniques makes re-evaluation in patients with intellectual disability without a causal diagnosis valuable, and is currently only performed after new referral. Active recontacting might serve a larger group of patients. We aimed to evaluate parental perspectives regarding recontacting and its feasibility in clinical genetic practice. A recontacting pilot was performed in two cohorts of children with intellectual disability. In cohort A, parents were recontacted by phone and in cohort B by letter, to invite them for a re-evaluation due to the new technologies (array CGH and exome sequencing, respectively). Parental opinions, preferences and experiences with recontacting were assessed by a self-administered questionnaire, and the feasibility of this pilot was evaluated.47 of 114 questionnaires were returned. In total, 87% of the parents believed that all parents should be recontacted in light of new insights, 17% experienced an (positive or negative) emotional reaction. In cohort A, approached by phone, 36% made a new appointment for re-evaluation, and in cohort B, approached by letter, 4% did.Most parents have positive opinions on recontacting. Recontacting might evoke emotional responses that may need attention. Recontacting is feasible but time-consuming and a large additional responsibility for clinical geneticists.     

Exploring neurologists’ perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines

Background

The use of Next Generation Sequencing such as Whole Genome Sequencing (WGS) is a promising step towards a better understanding and treatment of neurological diseases. WGS can result into unexpected information (incidental findings, IFs), and information with uncertain clinical significance. In the context of a Genome Canada project on ‘Personalized Medicine in the Treatment of Epilepsy’, we intended to address these challenges surveying neurologists’ opinions about the type of results that should be returned, and their professional responsibility toward recontacting patients regarding new discovered mutations.

Methods

Potential participants were contacted through professional organizations or direct invitations.

Results

A total of 204 neurologists were recruited. Fifty nine percent indicated that to be conveyed, WGS results should have a demonstrated clinical utility for diagnosis, prognosis or treatment. Yet, 41% deemed appropriate to return results without clinical utility, when they could impact patients’ reproductive decisions, or on patients’ request. Current use of targeted genetic testing and age of patients influenced respondents’ answers. Respondents stated that analysis of genomics data resulting from WGS should be limited to the genes likely to be relevant for the patient’s specific medical condition (69%), so as to limit IFs. Respondents felt responsible to recontact patients and inform them about newly discovered mutations related to the medical condition that triggered the test (75%) for as long as they are following up on the patient (55%). Finally, 53.5% of the respondents felt responsible to recontact and inform patients of clinically significant, newly discovered IFs.

Conclusion

Our results show the importance of formulating professional guidelines sensitive to the various – and sometimes opposite – viewpoints that may prevail within a same community of practice, as well as flexible so as to be attuned to the characteristics of the neurological conditions that triggered a WGS.

     

Recontacting registry participants with genetic updates through GenomeConnect,the ClinGen patient registry

PurposeVariant classifications and gene–disease relationships may evolve. Professional societies have suggested patients share the responsibility to remain up-to-date on the implications genetic results have on their health, and that novel methods of recontact are needed. GenomeConnect, the ClinGen patient registry, has implemented a process to provide variant classification and gene–disease relationship updates to participants. Here, we report on our experience with this recontacting process.MethodsGenomeConnect shares data with ClinVar and Matchmaker Exchange enabling the identification of updates to variant classifications and gene–disease relationships. For any updates identified, the reporting laboratory is contacted, and updates are shared with participants opting to receive them.ResultsOf 1,419 variants shared with ClinVar by GenomeConnect, 49 (3.4%) variant reclassifications were identified and 34 were shared with participants. Of 97 candidate genes submitted to Matchmaker Exchange, 10 (10.3%) gene–disease relationships have been confirmed and 9 were shared with participants. Details available from a subset of participants highlight that updated information is not always shared with the patient by testing laboratories.ConclusionPatient registries can provide a mechanism for patients and their providers to remain informed about changes to the interpretation and clinical significance of their genetic results, leading to important implications for care.

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Disclosure of genetic information to family members: a systematic review of normative documents

PurposeFindings from genomic sequencing can have important implications for patients and family members. Yet, when a patient does not consent to the disclosure of genetic information to relatives, it is unclear how health-care professionals (HCPs) should balance their responsibilities toward patients and their family members and whether breaches in confidentiality are warranted.MethodsWe conducted a systematic review of normative documents to understand how HCPs should discuss and facilitate family disclosure, and what should be done in cases where the patient does not consent to disclosure.ResultsWe analyzed 35 documents from advisory committees at the national, European, and international level. We identified discrepancies regarding the recommended role of HCPs in disclosure. While almost all normative documents supported the disclosure of genetic information without patient consent in limited conditions, the conditions for disclosure were often not well defined. Documents provided varying degrees of information regarding what actions HCPs must take in such situations.ConclusionOur findings present concerns regarding the ability of these normative documents to guide HCPs’ decision making around the disclosure of genetic information to family members. Clearer guidance outlining the responsibilities and acceptability of disclosure is necessary to facilitate disclosure of genetic information to family members.     

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

Biobanks and archived data sets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings and individual research results of potential health, reproductive, or personal importance to individual contributors (using “biobank” here to refer both to collections of samples and collections of data). This article reports recommendations from a 2-year project funded by the National Institutes of Health. We analyze the responsibilities involved in managing the return of incidental findings and individual research results in a biobank research system (primary research or collection sites, the biobank itself, and secondary research sites). We suggest that biobanks shoulder significant responsibility for seeing that the biobank research system addresses the return question explicitly. When reidentification of individual contributors is possible, the biobank should work to enable the biobank research system to discharge four core responsibilities to (1) clarify the criteria for evaluating findings and the roster of returnable findings, (2) analyze a particular finding in relation to this, (3) reidentify the individual contributor, and (4) recontact the contributor to offer the finding. We suggest that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors. This article specifies 10 concrete recommendations, addressing new biobanks as well as those already in existence.Genet Med 2012:14(4):361–384     

Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research

PurposeThe extent of the responsibility of health-care professionals (HCPs) to ensure that patients’ relatives are told of their risk is unclear. Current international guidelines take confidentiality to the individual patient as the default position, but some suggest that disclosure could be default and genetic information could be conceptualized as familial.MethodsOur systematic review and synthesis of 17 studies explored the attitudes of HCPs, patients, and the public regarding the extent of HCPs’ responsibility to relatives with respect to disclosure.ResultsHealth-care professionals generally felt a responsibility to patients’ relatives but perceived a variety of reasons why it would be difficult to act on this responsibility. Public/patient views were more wide-ranging. Participants identified several competing and overlapping arguments for and against HCP disclosure: guidelines do not permit/mandate it, privacy, medical benefit, impact on family dynamics, quality of communication, and respecting autonomy.ConclusionWe argue that HCPs can sometimes share genetic information without breaching confidentiality and that they could factor into their considerations the potential harm to family dynamics of nondisclosure. However, we need more nuanced research about their responsibilities to relatives, particularly as genomic tests are used more frequently in clinical practice.     

Preferences for results from genomic microarrays: comparing parents and health care providers

Chromosomal microarray (CMA) testing is now performed frequently in paediatric care. Although CMAs improve diagnostic yields, they increase detection of variants of unknown and uncertain clinical significance (VUS). Understanding parents', paediatricians' and genetic health professionals' (GHPs) views regarding variant disclosure may reduce the potential for communication of unwanted information. A questionnaire was designed to compare disclosure preferences of these three groups in Australia. One hundred and forty‐seven parents, 159 paediatricians and 69 GHPs hold similar views with at least 89% of respondents certainly or probably favouring disclosure of all categories of variants. However, some differences were observed between health care providers (HCPs: paediatricians and GHPs) and parents, who were less sure of their disclosure preferences. There was consensus among respondent groups that knowledge of a variant of certain clinical significance would provide more practical and emotional utility compared to VUS. Compared to HCPs, parents placed more emphasis on using knowledge of a VUS when considering future pregnancies (p < 0.001). This study may help HCPs anticipate parents' preferences for genomic testing. As whole exome/genome sequencing is integrated into clinical practice, the potential for differing views of parents and HCPs should be considered when developing guidelines for result disclosure.     

Duty to disclose in medical genetics: A legal perspective

As technical knowledge and public information in medical genetics continue to expand, the geneticist may expect to be held responsible for informing patients and clients about new developments in research and diagnosis. The long legal evolution of the physician's duty to disclose, and more recent findings of a physician's duty to recall former patients to inform them about newly discovered risks of treatment, indicate that medical geneticists may have a duty to disclose both current and future information about conditions that are or could be inherited. Recent case law supports findings of professional liability for both present and future disclosure, even in the absence of an active physician-patient relationship. The requirement of candid and complete disclosure will affect the counseling approach in testing for deleterious genes and in providing medical treatment for minors with hereditary diseases. Finding a duty to recall may impose further professional burdens on the geneticist to reach beyond the immediate counseling arena and to recontact patients, perhaps years after their initial visit to genetics clinic.     

The challenges of facilitating primary healthcare discussions on traditional,complementary and alternative medicine for childhood eczema: Piloting a computerized template

ObjectiveHealthcare practitioners (HCPs) experience barriers to changing routine consultation practice. Communication and recording of traditional, complementary and alternative medicines (TCAM) is inadequate. This pilot study explored the challenges of implementing a computerized template in primary care to facilitate communication on TCAM for paediatric eczema.MethodsA computerized template to record TCAM use, with links to evidence-based TCAM databases, was designed, based on qualitative research with patients and HCPs. Four London general practices implemented the template integrated with usual practice. Twelve focus groups during the 6 month study period explored HCPs’ knowledge, communication and information sources regarding TCAM and perceived barriers to template implementation.ResultsHCPs were initially enthusiastic about discussing TCAM, for improving communication and understanding patient's choices, but the template was used in under a third of consultations. HCPs were surprised at low TCAM use (10%) and lack of correlation with eczema or ethnicity. Reported barriers were time and remembering, due to busy, target-driven practice.ConclusionHCPs recognize the importance of discussing TCAM use for childhood eczema, and potential benefits for HCP–patient communication.Practice implicationsFuture tools to facilitate TCAM discussion should prioritise use of existing IT systems and address barriers to use, especially lack of time.     

Barriers and facilitators to discussing HPV with head and neck cancer patients: A qualitative study using the theoretical domains framework

ObjectiveThe incidence of human papillomavirus-associated head and neck cancers (HPV-HNC) is increasing worldwide. Research in other clinical contexts has shown that healthcare professionals (HCPs) can find discussing HPV with patients challenging. However, limited research has been conducted in HNC. This study aimed to investigate barriers and facilitators to, discussing HPV among HCPs caring for patients with HNC in Ireland.MethodsSemi-structured telephone/face-to-face interviews were conducted with HCPs. Barriers and facilitators to discussing HPV with patients were identified using the Theoretical Domains Framework (TDF).Results20 HCPs (8 clinicians, 3 nurses, 9 allied healthcare professionals) were interviewed. Barriers to discussing HPV included professionals' lack of HPV knowledge, difficulties in talking about sexual issues with patients and lack of privacy to discuss HPV in busy clinic settings. Facilitators included increasing public and patient awareness of the link between HPV and HNC and professional education and skills development.ConclusionsThis is the first theoretically informed study to identify barriers and facilitators to discussing HPV with HNC patients. HCPs consider HPV discussions to be an essential part of HNC patient care.Practice implicationsUnderstanding the issues associated with patient-provider HPV communication will help develop effective interventions to support HCPs in their HPV discussions.     

The challenges of facilitating primary healthcare discussions on traditional,complementary and alternative medicine for childhood eczema: Piloting a computerized template

Objective

Healthcare practitioners (HCPs) experience barriers to changing routine consultation practice. Communication and recording of traditional, complementary and alternative medicines (TCAM) is inadequate. This pilot study explored the challenges of implementing a computerized template in primary care to facilitate communication on TCAM for paediatric eczema.

Methods

A computerized template to record TCAM use, with links to evidence-based TCAM databases, was designed, based on qualitative research with patients and HCPs. Four London general practices implemented the template integrated with usual practice. Twelve focus groups during the 6 month study period explored HCPs’ knowledge, communication and information sources regarding TCAM and perceived barriers to template implementation.

Results

HCPs were initially enthusiastic about discussing TCAM, for improving communication and understanding patient's choices, but the template was used in under a third of consultations. HCPs were surprised at low TCAM use (10%) and lack of correlation with eczema or ethnicity. Reported barriers were time and remembering, due to busy, target-driven practice.

Conclusion

HCPs recognize the importance of discussing TCAM use for childhood eczema, and potential benefits for HCP–patient communication.

Practice implications

Future tools to facilitate TCAM discussion should prioritise use of existing IT systems and address barriers to use, especially lack of time.     

Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network

PurposeAs genomic sequencing becomes more common, medically actionable secondary findings will increasingly be returned to health care providers (HCPs), who will be faced with managing the resulting patient care. These findings are generally unsolicited, ie, unrelated to the sequencing indication and/or ordered by another clinician.MethodsTo understand the impact of receiving unsolicited results, we interviewed HCPs who received genomic results for patients enrolled in the Electronic Medical Records and Genomics (eMERGE) Phase III Network, which returned results on >100 actionable genes to eMERGE participants and HCPs.ResultsIn total, 16 HCPs across 3 eMERGE sites were interviewed about their experience of receiving a positive (likely pathogenic or pathogenic), negative, or variant of uncertain significance result for a patient enrolled in eMERGE Phase III and about managing their patient on the basis of the result. Although unsolicited, HCPs felt responsible for managing the patient’s resulting medical care. HCPs indicated that clinical utility depended on the actionability of results, and whereas comfort levels varied, confidence was improved by the availability of subspecialist consults. HCPs were concerned about patient anxiety, insurability, and missing an actionable result in the electronic health record.ConclusionOur findings help inform best practices for return of unsolicited genomic screening findings in the future.     

Ethical,legal, and practical concerns about recontacting patients to inform them of new information: The case in medical genetics

There is a consensus among medical geneticists that it is desirable to recontact patients as new information becomes available. Furthermore, some have suggested that there are legal arguments to support an obligation, creating a duty to recontact. Thus far much of the discussion among medical geneticists has focused on the practical concerns of implementing such a policy. However, we think that any such policy raises a number of important ethical concerns that must first be considered. Furthermore, there has not been a careful evaluation of the legal precedents that may reflect on a hypothetical duty to recontact. In this paper we first present an analysis of the scope of approaches and issues to be addressed in the development of ethical policy on this question. Secondly, we examine whether there is a legal obligation to recontact former patients about advances in genetics, as well as the legal implications if such a policy were to be adopted. Finally, we consider some of the functional and resource implications of adopting a policy of recontact. Our goal is to provide a framework for further discussion of this question and to stimulate further debate and research. © 2001 Wiley‐Liss, Inc.     

Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics.

There is a consensus among medical geneticists that it is desirable to recontact patients as new information becomes available. Furthermore, some have suggested that there are legal arguments to support an obligation, creating a duty to recontact. Thus far much of the discussion among medical geneticists has focused on the practical concerns of implementing such a policy. However, we think that any such policy raises a number of important ethical concerns that must first be considered. Furthermore, there has not been a careful evaluation of the legal precedents that may reflect on a hypothetical duty to recontact. In this paper we first present an analysis of the scope of approaches and issues to be addressed in the development of ethical policy on this question. Secondly, we examine whether there is a legal obligation to recontact former patients about advances in genetics, as well as the legal implications if such a policy were to be adopted. Finally, we consider some of the functional and resource implications of adopting a policy of recontact. Our goal is to provide a framework for further discussion of this question and to stimulate further debate and research.     

Oncology healthcare providers’ implementation of the 5A's model of brief intervention for smoking cessation: Patients’ perceptions

Objective

Health care providers (HCPs) can play an important role in promoting smoking cessation and preventing relapse. Public Health Service guidelines recommend the “5A's” model of brief intervention. The goal of the current study was to examine cancer patients’ perceptions of 5A's model implementation by their oncology HCPs.

Methods

This study included 81 thoracic and 87 head and neck cancer patients at a large NCI-designated comprehensive cancer center. Patients completed questionnaires assessing perceptions of their oncology HCPs’ implementation of the 5A's model of brief intervention.

Results

Results indicate partial implementation of the 5A's model. The majority of patients reported that their providers had asked about smoking and advised them to quit, however; only half reported that their interest in quitting had been assessed, and few reported assistance in quitting or follow-up. Delivery of the 5A's was greater among patients who requested cessation advice from their HCPs.

Conclusion

The current findings suggest a need to increase adherence to the 5A's in the oncology setting.

Practical implications

Efforts to increase smoking cessation treatment provision by HCPs may improve the rate of cessation among cancer patients, and ultimately translate into better long-term cancer treatment outcomes.     

Barriers and facilitators to shared decision-making in neonatal medicine: A systematic review and thematic synthesis of parental perceptions

ObjectivesSystematically review parental perceptions of shared decision-making (SDM) in neonatology, identifying barriers and facilitators to implementation.MethodsElectronic database (Medline, PsycINFO, CINAHL and Scopus) and follow-up searches were conducted to identify qualitative studies. Data were extracted, thematically analysed and synthesised.ResultsSearches yielded 2445 papers, of which 25 were included. Thematic analysis identified six key themes. Key barriers included emotional crises experienced in the NICU setting, lack of medical information provided to parents to inform decision-making, inadequate communication of information, poor relationships with caregivers, lack of continuity in care, and perceived power imbalances between HCPs and parents. Key facilitators included clear, honest and compassionate communication of medical information, caring and empathetic caregivers, continuity in care, and tailored approaches that reflected parent’s desired level of involvement.ConclusionThe highly specialised environment, and the emotional crises experienced by parents impact significantly on their perceived capacity to engage in surrogate decision-making.Practice ImplicationsComplex and multi-factorial interventions that address the training needs of HCPs, and the emotional, informational and decision support needs of parents are needed. SDM skills training, improved information delivery, and integrated emotional and decisional support could help parents to become more involved in SDM for their infant.