Lorraine Cowley

This Cancer Research UK funded qualitative research was inspired by my genetic counselling experience and my interest in families with a cancer predisposition gene causing Lynch Syndrome (LS). The aim of the research has been to explore meanings and senses of family generated at the intersections of genetics and kinship. My thesis is focused on a family known to a Regional Genetics Service, who contributed to research (Kolodner, Hall et al. 1995) characterising one of the genes (hMLH1) causing LS. This genetic research made testing for LS possible. It framed individuals from the biologically constructed family as the first to know their genetic risk status for this condition. My study emerged out of an interest in what this involvement in genetic research and knowledge production might have had on participants' sense of individual and kinship identity. In- depth multiple narrative interviews using visual props such as, family photographs, their genetic family tree and social map...

This project explores experiences of an extended family; one of the first internationally to have the MLH 1 gene characterised [1], causing what has become known as Lynch Syndrome. The paper focuses on how participants frame notions of choice and responsibility in the context of genetic testing and research.

Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallmark. We reviewed the clinical, radiological and genetic data for several families with a clinical diagnosis of Joubert syndrome but negative genetic analysis. We detected biallelic pathogenic variants in LAMA1, including novel alleles, in each of the four cases we report, thereby establishing a firm diagnosis of Poretti–Boltshauser syndrome. Analysis of brain MRI revealed cerebellar dysplasia and cerebellar cysts, associated with Poretti–Boltshauser syndrome and the absence of typical molar tooth signs. Using large UK patient cohorts, the relative prevalence of Joubert syndrome as a cause of intellectual disability was 0.2% and of Poretti–Boltshauser syndrome was 0.02%. We conclude that children with congenital brain disorders that mimic ...

The context of this case study, based on empirical qualitative research, is genetic testing for cancer susceptibility. Within genetics, information may have shared significance for family members, but not everyone necessarily has the same desire to know their genetic probability of developing cancer. Professional ethics codes in the UK dictate that genetic testing is offered as an individual choice, not a shared one, although in practice family members may be invited to, or request, shared appointments. Here the ideal of individual choice comes into contact with pressures of family dynamics, and these may influence how people engage with choice as individuals.

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 s...

This Editorial provides background information to inform the report from the United Kingdom (UK) and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision. We begin by introducing the context of practice as a genetic counselor in the UK and then follow with an overview of events that have happened in our profession that led to the need and creation of the report. Genetic counseling supervision has become instrumental to our practice, training and registration as genetic counselors in the UK.

Retrospective interviews were undertaken with 12 women who had received an 18-week course of adjuvant chemotherapy for positive node breast cancer 1 year previously, and who had not experienced cancer recurrence. The nonstandardized interviews covered women's preconceptions about adjuvant chemotherapy, their information needs, and the impact of treatment. The qualitative data analysis drew upon the theoretical ideas of patient career, trajectory projection and qualitative risk analysis. Some women regarded adjuvant chemotherapy as no more than an 'insurance policy'. This perception may have arisen because doctors, attempting to minimize patient anxiety, did not discuss the high risk of disease recurrence which they faced. Other women equated adjuvant with curative chemotherapy, and anticipated hair loss or almost certain death. The women tried to cope with the physical and mental suffering associated with adjuvant chemotherapy through normalizing strategies, such as keeping a brave face, maintaining previous patterns of life, looking for humour and restructuring time. However, the rapid alterations in physical and mental state resulting from cycles of adjuvant chemotherapy resulted in a 'rollercoaster' experience for women which made normalization more difficult. Health professionals caring for women who must cope with uncertain future trajectories need to manage a risk communication dilemma. A strategy of fully informing women about the risks they face may cause anxiety or depression, and even impede recovery, given the evidence for psychological influences on health outcomes. But, if women do not understand the medical thinking on which their treatment is based, their misconceptions may be equally damaging.