From the patient to the population: use of genomics for population screening

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH

The role of virtual consultations in cancer genetics: challenges and opportunities introduced by the COVID-19 pandemic

The COVID-19 pandemic changed the delivery of healthcare within the United Kingdom. A virtual model of care, utilising telephone and video consultations, was rapidly imposed upon cancer genetics teams. This large-scale change in service delivery has led to new opportunities that can be harnessed to improve patient care. There is a clear potential to mitigate geographical barriers, meet increasing patient expectations of implementing virtual consultations, reduce hospital carbon footprints, and decrease hospital costs while increasing efficiency. However, there are also significant challenges introduced by this model of care. Virtual healthcare consultations introduce another new level of digital exclusion for patients and clinicians. There are also potential challenges for maintaining patient confidentiality, and limited utility in circumstances where a physical exam may be warranted. For clinicians, there may be impacts on empathetic responses delivered and challenges in workflow and workload. Virtual consultations are likely to continue being a feature of cancer genetics services. A flexible approach is needed to allow for virtual and traditional models of care to work together and best meet patients’ needs. Cancer genetics services should harness the opportunities provided by virtual processes to improve patient care, whilst collaborating with patient groups and other stakeholders to carefully examine and address the challenges that virtual consultations introduce

Identification of Subpallial Neuronal Populations Across Zebrafish Larval Stages that Express Molecular Markers for the Striatum

Striatal neurons within the basal ganglia play a central role in vertebrate action selection; however, their location in larval zebrafish is not well defined. We assayed for conserved striatal markers in the zebrafish subpallium using fluorescent in situ hybridization (FISH) and immunohistochemistry. Whole mount FISH revealed an inhibitory neuronal cluster rostral to the anterior commissure that expresses tac1, the gene that encodes the precursor peptide for substance P. This molecular profile is shared by mammalian striatal direct pathway neurons. A second partially overlapping population of inhibitory neurons was identified that expresses penka, the gene that encodes the precursor peptide for enkephalin. This molecular profile is shared by striatal indirect pathway neurons. Immunostaining for substance P and enkephalin confirmed the presence of these peptides in the subpallium as well as the presence of dopaminergic innervation. The tac1 and penka populations were both found to increase linearly across larval stages. Together, these findings support the existence of a striatal homologue in larval zebrafish that grows to match the development and increasing behavioural complexity of the organism.M.Sc

The role of virtual consultations in cancer genetics: challenges and opportunities introduced by the COVID-19 pandemic

Acknowledgements: This paper is based on four articles submitted to the UK Cancer Genetics Group (UKCGG) 2021 Essay Prize “Delivering cancer genetics services in the post-pandemic era—are we ready for a virtual model of care?” by MGR, VA, RD and JOL. We are grateful for the support from UKCGG to submit these pieces as a collaborative journal article.AbstractThe COVID-19 pandemic changed the delivery of healthcare within the United Kingdom. A virtual model of care, utilising telephone and video consultations, was rapidly imposed upon cancer genetics teams. This large-scale change in service delivery has led to new opportunities that can be harnessed to improve patient care. There is a clear potential to mitigate geographical barriers, meet increasing patient expectations of implementing virtual consultations, reduce hospital carbon footprints, and decrease hospital costs while increasing efficiency. However, there are also significant challenges introduced by this model of care. Virtual healthcare consultations introduce another new level of digital exclusion for patients and clinicians. There are also potential challenges for maintaining patient confidentiality, and limited utility in circumstances where a physical exam may be warranted. For clinicians, there may be impacts on empathetic responses delivered and challenges in workflow and workload. Virtual consultations are likely to continue being a feature of cancer genetics services. A flexible approach is needed to allow for virtual and traditional models of care to work together and best meet patients’ needs. Cancer genetics services should harness the opportunities provided by virtual processes to improve patient care, whilst collaborating with patient groups and other stakeholders to carefully examine and address the challenges that virtual consultations introduce.</jats:p