Engaged genomic science produces better and fairer outcomes: an engagement framework for engaging and involving participants, patients and publics in genomics research and healthcare implementation.

Genomic science is increasingly central to the provision of health care. Producing and applying robust genomics knowledge is a complex endeavour in which no single individual, profession, discipline or community holds all the answers.  Engagement and involvement of diverse stakeholders can support alignment of societal and scientific interests, understandings and perspectives and promises better science and fairer outcomes. In this context we argue for F.A.I.R.E.R. data and data use that is Findable, Accessible, Interoperable, Reproducible, Equitable and Responsible. Yet there is a paucity of international guidance on how to engage publics, patients and participants in genomics. To support meaningful and effective engagement and involvement we developed an Engagement Framework for involving and engaging participants, patients and publics in genomics research and health implementation. The Engagement Framework is intended to support all those working in genomics research, medicine, and healthcare to deliberatively consider approaches to participant, patient and public engagement and involvement in their work. Through a series of questions, the Engagement Framework prompts new ways of thinking about the aims and purposes of engagement, and support reflection on the strengths, limitations, likely outcomes and impacts of choosing different approaches to engagement. To guide genomics activities, we describe four themes and associated questions for deliberative reflection: (i) fairness; (ii) context; (iii) heterogeneity, and (iv) recognising tensions and conflict. The four key components in the Engagement provide a framework to assist those involved in genomics to reflect on decisions they make for their initiatives, including the strategies selected, the participant, patient and public stakeholders engaged, and the anticipated goals. The Engagement Framework is one step in an actively evolving process of building genomics research and implementation cultures which foster responsible leadership and are attentive to objectives which increase equality, diversity and inclusion in participation and outcomes.

Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure.

BACKGROUND: Genomic and biosocial research data about individuals is rapidly proliferating, bringing the potential for novel opportunities for data integration and use. The scale, pace and novelty of these applications raise a number of urgent sociotechnical, ethical and legal questions, including optimal methods of data storage, management and access. Although the open science movement advocates unfettered access to research data, many of the UK's longitudinal cohort studies operate systems of managed data access, in which access is governed by legal and ethical agreements between stewards of research datasets and researchers wishing to make use of them. Amongst other things, these agreements aim to respect the reasonable expectations of the research participants who provided data and samples, as expressed in the consent process. Arguably, responsible data management and governance of data and sample use are foundational to the consent process in longitudinal studies and are an important source of trustworthiness in the eyes of those who contribute data to genomic and biosocial research. METHODS: This paper presents an ethnographic case study exploring the foundational principles of a governance infrastructure for Managing Ethico-social, Technical and Administrative issues in Data ACcess (METADAC), which are operationalised through a committee known as the METADAC Access Committee. METADAC governs access to phenotype, genotype and 'omic' data and samples from five UK longitudinal studies. FINDINGS: Using the example of METADAC, we argue that three key structural features are foundational for practising responsible data sharing: independence and transparency; interdisciplinarity; and participant-centric decision-making. We observe that the international research community is proactively working towards optimising the use of research data, integrating/linking these data with routine data generated by health and social care services and other administrative data services to improve the analysis, interpretation and utility of these data. The governance of these new complex data assemblages will require a range of expertise from across a number of domains and disciplines, including that of study participants. Human-mediated decision-making bodies will be central to ensuring achievable, reasoned and responsible decisions about the use of these data; the METADAC model described in this paper provides an example of how this could be realised.

Menopausal symptoms among British Pakistani women: a critique of the standard checklist approach.

OBJECTIVE: This study aims to identify problems with the standard menopause symptom checklist method previously used to study variations in menopause symptoms and to explore data collected using an alternative approach. METHODS: As part of a biosocial study of menopause, 257 British Pakistani women aged 39 to 61 years and living in West Yorkshire, UK, were interviewed. Participants reported and rated any menopause-associated changes (positive or negative) they had experienced. Participants also reported whether they associated with menopause each of the 34 symptoms on a standard checklist. Responses were analyzed using factor analysis, and factor scores from five factors were used to assess predictors of the attribution of symptoms to menopause. RESULTS: Women reported a wide range of symptoms, most of which are not on symptom checklists. Attribution of symptoms to menopause was associated with menopause status, age, and migration status. Women's beliefs about which experiences were attributable to menopause did not correspond to those of the checklist developers. Women interpreted some items on the standard checklist in ways other than originally intended based on local ideas; however, because of the use of a more open approach, this produced useful data. CONCLUSIONS: Symptom checklists have serious limitations as a tool for understanding symptom experience, and prior justifications for their use leave much to be desired. The use of a more open approach generates useful data; moreover, research participants' understanding of changes attributable to menopause may accurately reflect biological changes and may have a relationship with population-specific disease risk.

'Everybody is moving on': infertility, relationality and the aesthetics of family among British-Pakistani Muslims.

It is now widely recognised that experiences of infertility are socially and culturally contingent. Drawing on reproductive narratives of 108 British-Pakistani Muslims living in Northeast England (collected from 2007 to 2010), we show that subjective experiences of infertility in this population can take many forms, from 'straightforward' childlessness to concerns about inability to fulfil a range of reproductive expectations, desires and obligations, regarding timing, gender balance and number of offspring. Extended family relations are pivotal in the processes through which reproduction (or lack thereof) becomes defined as problematic. Changing family aesthetics can thus shape individuals' experiences of infertility in important ways. A growing emphasis on conjugal relationships for some couples offers a greater range of reproductive possibilities (enabling, for example, a period of voluntary childlessness). For others, increasing nuclearisation of family life reduces the possibilities for extended families to 'plug the gap' by providing proxy-children and a normalised social role for infertile couples. Moreover, such social roles may be time-limited, creating serious challenges for the long-term childless, who find themselves caught 'betwixt and between' two disparate sets of values.

GPs' explanatory models for irritable bowel syndrome: a mismatch with patient models?

BACKGROUND: Inconsistencies in doctors' views about causes and treatment of irritable bowel syndrome (IBS) lead to frustration for doctors and in doctor-patient interactions. Diagnosis by GPs does not correspond well to established diagnostic criteria. OBJECTIVE: To understand GPs' explanatory models (EMs) and management strategies for IBS. METHODS: Qualitative, semi-structured interviews with 30 GPs (15 from the UK and 15 from The Netherlands). RESULTS: Diagnosing IBS in primary care is a complex process, involving symptoms, tests, history and risk calculation. GPs were uncertain about the aetiology of IBS, but often viewed it as a consequence of disordered bowel activity in response to stress, which was viewed as a function of people's responses to their environment. GPs tend to diagnose IBS by exclusion, rather than with formal diagnostic criteria. They endeavoured to present the IBS diagnosis to their patients in a way that they would accept, fearing that many would not be satisfied with a diagnosis that had no apparent physical cause. GPs focused on managing symptoms and reassuring patients. Many GPs felt that patients needed to take the responsibility for managing their IBS and for minimizing its impact on their daily lives. However, the GPs had limited awareness of the extent to which IBS affected their patients' daily lives. CONCLUSIONS: GPs' diagnostic procedures and EMs for IBS are at odds with patient expectations and current guidelines. Shared discussion of what patients believe to be triggers for symptoms, ways of coping with symptoms and the role of medication may be helpful.

Patients' explanatory models for irritable bowel syndrome: symptoms and treatment more important than explaining aetiology.

BACKGROUND: Irritable bowel syndrome (IBS) is a common condition associated with no certain organic cause, though diet and stress are widely implicated. The condition is frustrating for both sufferers and doctors, and there are problems in diagnosing and treating the condition. Eliciting explanatory models (EMs) is a useful tool for understanding how individuals relate to their illnesses and their expectations for treatment, particularly for illnesses with uncertain aetiology like IBS. OBJECTIVES: To understand the EMs, experiences and expectations for management of patients with IBS. METHODS: Qualitative, semi-structured interviews were conducted with 51 primary care patients (31 in the UK, 20 in The Netherlands) meeting the Rome II diagnostic criteria for IBS. RESULTS: Although IBS often had a significant dampening effect on daily life, IBS patients made great efforts not to allow the condition to take over their lives. Triggers of symptoms were more important to patients than understanding the underlying aetiology of IBS. Diet and stress were both recognized as important triggers, but views about which foods were problematic and the extent to which stress was modifiable were inconsistent. Diagnosis and treatment were often a confusing and frustrating process, and patients often expected more diagnostic tests than they were offered before receiving a diagnosis of IBS. However, the often poor outcome of medical interventions does not, in general, appear to have a negative impact on the patient-doctor relationship. CONCLUSIONS: Clinicians should be aware of the extensive impact of IBS on sufferers' daily life and the frustration that results from repeatedly trying treatments with little effect. Clearly explaining the guidelines for diagnosing IBS and the range of treatment options may help patients to make sense of the diagnostic and treatment processes. The personal EM should be addressed during the consultation with the IBS patient, ensuring that any successive medical interventions match with the patients' disease perception.