Anneke Lucassen

Background Genomic testing will occasionally identify a highly actionable genetic variant or other finding that is not related to the reason for testing. Such incidental findings may be relevant to the patient undergoing testing or to their family members. Methods This guidance on managing incidental findings was developed by the British Society for Genetic Medicine to support clinicians requesting genomic tests and clinical scientists working in genomic laboratories within the National Health Service. Results Clinicians should include the possibility of incidental findings with a patient/parent(s) in discussions around genomic testing. Decisions regarding the reporting of a genetic variant unrelated to the referral reason will depend on clinical actionability, penetrance and the variant classification. Pathogenic variants may be reported if there is evidence of high penetrance and available treatment or surveillance that is likely to improve clinical outcome. Testing using large next generation sequencing gene panels and genome-wide array analysis increases the likelihood of revealing heterozygous carrier status for autosomal recessive disorders unrelated to the reason for testing. Reporting incidental heterozygous carrier status for autosomal recessive conditions is not recommended. Conclusion This guidance provides a framework for the reporting of incidental findings with case examples and a cancer susceptibility gene list. Decision-making in accordance with guidelines will achieve greater consistency than case by case decisions. This guidance may be of use to healthcare professionals in other publicly funded healthcare systems with evolving genomic testing services.

The use of genomic sequencing in newborn screening is increasingly being piloted through research programmes worldwide. In parallel, an expanding body of attitudinal studies has examined stakeholder views as jurisdictions consider whether and how to implement genomic newborn screening (gNBS). To understand what perspectives have been represented thus far in stakeholder research and how those perspectives have been shaped by study design, we conducted a systemic mapping of 41 attitudinal studies about gNBS. Studies were conducted in eight countries, with more than half linked to ongoing pilot programmes. We observed a limited range of perspectives, with mothers and people with prior experience of a genetic condition in the family relatively frequently represented. As gNBS would primarily involve testing newborns who are not affected by genetic conditions, additional perspectives are needed. Studies varied considerably in how gNBS was described to participants. The issues most frequently explored concerned acceptability ( n = 31), consent ( n = 24), scope of screening ( n = 26), psychosocial implications ( n = 25), and data storage and secondary use ( n = 22), whereas healthcare system readiness ( n = 13) and equity considerations ( n = 11) received comparatively less attention. Many studies left unaddressed participants’ underlying assumptions about the predictive certainty of genomic findings, highlighting a need to situate gNBS within the realities of genomic uncertainty. At a time when policymakers are actively considering gNBS, this mapping highlights the need for careful interpretation of existing findings and identifies research priorities, particularly in relation to understanding gNBS as a public health programme.

Contemporary healthcare systems generate vast volumes of data, with algorithmic interrogation promising disease prediction, improved diagnoses, and optimised treatment. Despite significant investment, biases in data used for algorithmic interrogation persist, leading to inequities in health outcomes. Scale alone cannot address these biases. Rather, considerations of the contextual dimensions of data need to be reflected upon. Nevertheless, calls for more data to ‘iron out’ such issues are common. Drawing on qualitative interviews with UK‐based health data researchers, we use Lucy Suchman's concept of configuration to explore how sociotechnical imaginaries of ‘big data’, which lead to calls for more data, are sustained, operationalised and enacted in everyday research practice. Specifically, we identify three interconnected processes that sustain these imaginaries: (1) risk‐oriented narratives that organise research around calculable futures; (2) decontextualising translation processes that align data with algorithmic requirements and (3) a persistent gap between algorithmic capacity and data availability. We conceptualise this third mechanism as a productive gap, as it continually renews commitments to scale by attributing limitations to insufficient data. We argue this gap represents a critical juncture for reconfiguration, revealing where assumptions about decontextualisation might be challenged to create space for more situated approaches to health data research.

Little research has been conducted on patients' experiences inside the predictive genetics clinic. In this clinic, a person with a familial risk of inheriting a rare disease seeks a test that will provide them with information about their future health. Counselors combine gentle challenges with neutral approaches to educate and counsel patients wanting to take the predictive test. We conducted ethnographic observations of predictive genetics clinics for Huntington's Disease in England and Wales. Four content categories were prominent throughout the analysis, which we present in this paper: connecting, deciding, coping, and supporting. (1) Connecting describes how discussions began with an exploration of the idiosyncrasies of the patient's connection with Huntington's Disease. (2) Deciding describes how counselors asked patients about their decision to seek referral to the predictive genetics clinic; (3) Coping describes how counselors explored whether and how the patient was likely to cope, especially with a positive (bad news) test result; and (4) Supporting describes the support patients may need if they receive such news. This article contributes to a deeper understanding of patient experience in predictive genetics clinics, which is invaluable for genetics professionals and others who support patient care. Based on this analysis, the paper underlines the importance of the elongated counseling process and the need to ensure counselors receive the training and support they require to manage such complex medical encounters.

Genomic science is a central feature of the UK government’s current 10-year health plan for England, which places significant emphasis on prediction and prevention. Although NHS prevention strategies have long been aimed at catching diseases earlier and at a more treatable stage, genomics until now has focussed largely on diagnosis and treatment. At present, there is limited evidence on how patients and publics engage with uncertain and probabilistic genomic information. While the public health benefits of this turn towards genomic screening may take time to establish, insights can be gained from recent large-scale diagnostic initiatives that also offered a screening element. This article draws on a qualitative longitudinal study of 100,000 Genomes Project participants, within which decision-making around the option to receive Additional Findings (AFs) was discussed. By focusing on future health risks in asymptomatic individuals, AFs can be understood as an opportunistic form of screening. Analysis identified three interrelated themes: ambivalence, reflecting anxiety and uncertainty surrounding decisions to receive AFs; inevitability and participant’s own perceptions of patterns of future risk within families; and legacy, capturing motivations framed in collective and relational terms. Participants’ accounts reflected enduring expectations of genomic medicine as a source of certainty and clarity, which sits uneasily alongside probabilistic and uncertain forms of knowledge such screening approaches are likely to produce. Understanding how individuals and families conceive of the potential and pitfalls of employing genomic tests in screening contexts is vital as a range of countries pilot or adopt genomic tools in population health services.

Many people will have had no formal education on health-related genomic testing, so information from media sources may constitute a major influence in shaping ideas and expectations around genomic tests. We undertook a framing analysis of 186 UK news items discussing health-related genomic testing in the context of various recent UK-based initiatives: the 100,000 Genomes Project; Our Future Health; the Generation Study; the Deciphering Developmental Disorders Study; and the NHS Genomic Medicine Service. We found that news items tended to frame genomic tests as the fruit of amazing technological progress. Tests were frequently described as ‘reading’ the genetic code and in the context of newborn screening, diagnosis and prediction were often treated as almost synonymous. Genomics was positioned as standing to give us all a healthier future. A decision to contribute genomic data to a research database was typically framed as virtuous, though some items discussed privacy concerns in depth. A clear diagnosis was achieved in 88% of instances where diagnostic genomic testing of a specific symptomatic person was discussed, with little attention afforded to those who had experienced less impressive outcomes. In summary, UK news items tended to celebrate the very best of genomic testing, but in doing so, they potentially engender an expectation that dramatically beneficial results come as standard. Providers of genomic tests need to be mindful of the backdrop of promotional media discourse when patients are making decisions around testing and ensure that consent conversations help patients anticipate potential limitations and challenges as well as benefits.

Over the past two decades, genetic testing has undergone major shifts in its accessibility and in its nature. Historically, it primarily involved analysis of single genes selected on the basis of symptoms or family history, and was available only to a few. Now, options range from diagnostic clinical genomic tests, to broader screens offered to ‘healthy’ populations, to direct-to-consumer tests offering to explore ancestry. As genetic testing becomes an increasingly ‘everyday’ encounter, we sought to explore how the topics of genetics (and genomics) were considered in the Mass Observation Project, an archive of writing by ‘ordinary’ people about everyday life in Britain. 55% of the 147 respondents had personal experience of genetic testing or knew someone who had, typically to explore ancestry. Responses often gave the sense of genetic testing as a powerful tool in healthcare with results that were fairly definitive. Genomic testing was typically written about as an amplification of genetic testing, generating information of similar solidity. Writers threaded together personal experiences with insights drawn from a wide variety of media, often quite old, in outlining their ideas. While many positioned genetics as outside their remit, respondents engaged in depth with the opportunities and challenges raised, advocating for ethical/societal considerations to form a key part of decision-making regarding genetics. Our analysis shows that people without prior experience of clinical genetic testing may yet have a wealth of experiences and exposures sculpting their expectations as to what testing stands to bring. Consent conversations may benefit from exploring these.