In the family: access to, and communication of, familial information in clinical practice

How an individual’s genetic information is governed by confidentiality, and how the interests of others—such as close relatives—in knowing such information might be respected, has been the topic of much debate ever since genetic testing has become more prevalent. In this paper, two authors who often appear to have different views on familial disclosure, discuss where they agree on this topic

Ethical considerations in research with genomic data

Our ability to generate genomic data is currently well ahead of our ability to understand what they mean, raising challenges about how best to engage with them. This article considers ethical aspects of work with such data, focussing on research contexts that are intertwined with clinical care. We discuss the identifying nature of genomic data, the medical information intrinsic within them, and their linking of people within a biological family. We go on to consider what this means for consent, the importance of thoughtful sharing of genomic data, the challenge of constructing meaningful findings, and the legacy of unequal representation in genomic datasets. We argue that the ongoing success of genomic data research relies on public trust in the enterprise: to justify this trust, we need to ensure robust stewarding, and wide engagement about the ethical issues inherent in such practices

Ethical considerations in prenatal genomic testing

This paper discusses ethical issues arising in the context of prenatal genomic testing. While genomic information in the prenatal context might increase reproductive choice, e.g. to better understand a phenotype detected during screening, the availability of ever broader screens, even in the absence of a suspicion of abnormality, will generate increasingly complex and uncertain information. This raises questions of how much and what information should be provided prior to testing and what information should be returned (and to whom) once testing has been performed. As prenatal genomic testing becomes broader and more routine, the information generated will have more often implications not only for the fetus, but also for the parents, siblings and the wider family, raising questions about professionals’ responsibilities. Further challenges discussed in this paper include access to genomic testing and justice, as well as ongoing management and post-pregnancy follow-up. The paper highlights the importance of taking into account the particular difficulties that arise in the context of prenatal genomic testing: the uncertainty of the information while choices are binary (to continue with or to terminate pregnancy); the time pressure due to the statutory limits on the availability of termination; and the impact the testing of the fetus has on the woman’s body and life

The changing landscape of genetics and insurance in the UK

Report from a workshop organised by the British Society of Genetic Medicine and the Centre for Personalised Medicine

Genomic data: building blocks for life or abstract art?

The genes found in the genetic code (genome) are sometimes called the “building blocks for life” but knowing how they impact human health can be more complicated than it sounds. This article aims to show how difficult it can be to understand how our genes can affect our health, and why it is not always easy to work out a patient’s result from genetic tests. We follow the story of Ben, whose muscles have been getting weaker for a few years. To find out why, Ben has had his genetic code sequenced, and we will walk you through a process by which his results can be analyzed. Through this activity, we will show you that analyzing patients’ genome tests is a bit like interpreting abstract art, in which different people might see and value different things

Genomics and insurance in the United Kingdom: increasing complexity and emerging challenges

This article identifies issues relating to the use of genetics and genomics in risk-rated insurance that may challenge existing regulatory models in the UK and elsewhere. We discuss three core issues: (1) As genomic testing advances, and results are increasingly relevant to guide healthcare across an individual's lifetime, the distinction between diagnostic and predictive testing that the current UK insurance code relies on becomes increasingly blurred (2) The emerging category of pharmacogenetic tests that are predictive only the in the context of a specific prescribing moment (3) The increasing availability and affordability of polygenic scores that are neither clearly diagnostic nor highly predictive, but which nonetheless might have incremental value for insurance underwriting beyond conventional factors. We suggest a deliberative approach is required to establish when and how genetic information can be used in risk-rated insurance

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom

This article explores the views and experiences of healthcare professionals and clinical scientists in genetics about the existence of a duty and/or responsibility to recontact former patients when the genetic information relevant to their health, or that of family members, changes in a potentially important manner. It is based on N=30 semi-structured interviews guided by vignettes of recontacting scenarios. The sample included healthcare professionals in the United Kingdom from different medical specialties (clinical genetics, other ‘mainstream’ specialties now offering genetic testing), and scientists from regional genetics laboratories. While viewing recontacting as desirable under certain circumstances, most respondents expressed concerns about its feasibility within the current constraints of the National Health Service (NHS). The main barriers identified were insufficient resources (time, staff, and suitable IT infrastructures) and lack of clarity about role boundaries and responsibilities. All of these are further complicated by genetic testing being increasingly offered by mainstream specialties. Reaching a consensus about roles and responsibilities of clinical specialties with regard to recontacting former patients in the light of evolving genetic information, and about what resources and infrastructures would be needed, was generally seen as a pre-requisite to developing guidelines about recontact

Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance

We discuss a case where clinical genomic investigation of muscle weakness unexpectedly found a genetic variant that might (or might not) predispose to kidney cancer. We argue that despite its off-target and uncertain nature, this variant should be discussed with the man who had the test, not because it is medical information, but because this discussion would allow the further clinical evaluation that might lead it to becoming so. We argue that while prominent ethical debates around genomics often take 'results' as a starting point and ask questions as to whether to look for and how to react to them, the construction of genomic results is fraught with ethical complexity, although often couched as a primarily technical problem. We highlight the need for greater focus on, and appreciation of, the ethical work undertaken daily by scientists and clinicians working in genomic medicine and discuss how public conversations around genomics need to adapt to prepare future patients for potentially uncertain and unexpected outcomes from clinical genomic tests

Familial genomic information: scope, context and implications for practice

A joint workshop report from the British Society of Genomic Medicine, the PHG Foundation, and the Centre for Personalised Medicine, University of Oxford