scholarly journals The fetus in the age of the genome

2021 ◽  
Author(s):  
Dagmar Schmitz ◽  
Wolfram Henn

AbstractDue to a number of recent achievements, the field of prenatal medicine is now on the verge of a profound transformation into prenatal genomic medicine. This transformation is expected to not only substantially expand the spectrum of prenatal diagnostic and screening possibilities, but finally also to advance fetal care and the prenatal management of certain fetal diseases and malformations. It will come along with new and profound challenges for the normative framework and clinical care pathways in prenatal (and reproductive) medicine. To adequately address the potential ethically challenging aspects without discarding the obvious benefits, several agents are required to engage in different debates. The permissibility of the sequencing of the whole fetal exome or genome will have to be examined from a philosophical and legal point of view, in particular with regard to conflicts with potential rights of future children. A second requirement is a societal debate on the question of priority setting and justice in relation to prenatal genomic testing. Third, a professional-ethical debate and positioning on the goal of prenatal genomic testing and a consequential re-structuring of clinical care pathways seems to be important. In all these efforts, it might be helpful to envisage the unborn rather not as a fetus, not as a separate moral subject and a second “patient”, but in its unique physical connection with the pregnant woman, and to accept the moral quandaries implicitly given in this situation.

Author(s):  
G. Hampson ◽  
M. Stone ◽  
J. R. Lindsay ◽  
R. K. Crowley ◽  
S. H. Ralston

AbstractIt is acknowledged that the COVID-19 pandemic has caused profound disruption to the delivery of healthcare services globally. This has affected the management of many long-term conditions including osteoporosis as resources are diverted to cover urgent care. Osteoporosis is a public health concern worldwide and treatment is required for the prevention of further bone loss, deterioration of skeletal micro-architecture, and fragility fractures. This review provides information on how the COVID-19 pandemic has impacted the diagnosis and management of osteoporosis. We also provide clinical recommendations on the adaptation of care pathways based on experience from five referral centres to ensure that patients with osteoporosis are still treated and to reduce the risk of fractures both for the individual patient and on a societal basis. We address the use of the FRAX tool for risk stratification and initiation of osteoporosis treatment and discuss the potential adaptations to treatment pathways in view of limitations on the availability of DXA. We focus on the issues surrounding initiation and maintenance of treatment for patients on parenteral therapies such as zoledronate, denosumab, teriparatide, and romosozumab during the pandemic. The design of these innovative care pathways for the management of patients with osteoporosis may also provide a platform for future improvement to osteoporosis services when routine clinical care resumes.


2021 ◽  
pp. 174701612110082
Author(s):  
Nicole Podschuweit

This paper aims to bring into the ethical debate on covert research two aspects that are neglected to date: the perspective of the research subjects and the special responsibility of investigators towards their observers. Both aspects are falling behind, especially in quantitative social research. From a methodological point of view, quantitative forms of covert observation involve a great distance between the researcher and the research subjects. When human observers are involved, the focus is usually on the reliable application of the measuring instrument. Therefore, herein, a quantitative study is used as an example to show how the protection needs of both the observed persons and the observers can be met in practice. The study involved 40 student observers who covertly captured everyday conversations in real-world settings (e.g. in cafés or trains) by a highly standardised observation scheme. The study suggests that the anonymity of the research subjects and their trust in the observers are crucial for their subsequent consent. However, many participants showed only little or even no interest in the written information they were provided. Further, this study strongly emphasises how mentally stressful covert observations are to the observers. Almost all observers were worried in advance that the people they were observing would prematurely blow their cover and confront them. Role-playing and in-depth discussions in teams are good strategies to alleviate such and other fears and to prepare student assistants well for their demanding work in the field.


2007 ◽  
Vol 43 (15) ◽  
pp. 2170-2178 ◽  
Author(s):  
Maruscha de Vries ◽  
Julia C.M. van Weert ◽  
Jesse Jansen ◽  
Valery E.P.P. Lemmens ◽  
Huub A.A.M. Maas

BJPsych Open ◽  
2020 ◽  
Vol 6 (2) ◽  
Author(s):  
Sandra Flynn ◽  
Jane Graney ◽  
Thabiso Nyathi ◽  
Jessica Raphael ◽  
Seri Abraham ◽  
...  

Background It is estimated that 1 in 10 people have a personality disorder. People with emotionally unstable personality disorder are at high risk of suicide. Despite being frequent users of mental health services, there is often no clear pathway for patients to access effective treatments. Aims To describe the characteristics of patients with personality disorder who died by suicide, examine clinical care pathways and explore whether the care adhered to National Institute for Health and Care Excellence guidance. Method National consecutive case series (1 January 2013 to 31 December 2013). The study examined the health records and serious incident reports of patients with personality disorder who died by suicide in the UK. Results The majority had a diagnosis of borderline/emotionally unstable or antisocial personality disorder. A high proportion of patients had a history of self-harm (n = 146, 95%) and alcohol (n = 101, 66%) or drug misuse (n = 79, 52%). We found an extensive pattern of service contact in the year before death, with no clear pathway for patients. Care was inconsistent and there were gaps in service provision. In 99 (70%) of the 141 patients with data, the last episode of care followed a crisis. Access to specialised psychological therapies was limited; short-term in-patient admissions was adhered to; however, guidance on short-term prescribing for comorbid conditions was not followed for two-thirds of patients. Conclusions Continuity and stability of care is required to prevent, rather than respond to individuals in crisis. A comprehensive audit of services for people with personality disorder across the UK is recommended to assess the quality of care provided.


2019 ◽  
Vol 20 (7) ◽  
pp. 926.e1-926.e11 ◽  
Author(s):  
Jason Talevski ◽  
Kerrie M. Sanders ◽  
Gustavo Duque ◽  
Catherine Connaughton ◽  
Alison Beauchamp ◽  
...  

2019 ◽  
Author(s):  
Jo Gibbs ◽  
Aneesha Singh ◽  
Claudia Estcourt ◽  
Pam Sonnenberg ◽  
Ann Blandford
Keyword(s):  

Author(s):  
Alexandra Whiter ◽  
Eamonn Sheridan ◽  
Judith Hayward ◽  
Imran Rafi

Advances in genomic technology and the launch of the NHS Genomic Medicine Service (GMS) in 2018 have firmly embedded genomic testing within routine clinical care. As the gateway to the NHS, primary care practitioners will be managing increasing numbers of patients who are eligible for genomic testing, or who present with their own, or a family member’s genomic test result. This article provides an overview of recent developments in the field of genomics, explains key concepts and terminology, and details the current organisation of the genomics services under the GMS. It also discusses some common presentations within primary care to highlight the relevance of genomics to frontline GPs.


2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Nik Howes ◽  
Sam Lattimore ◽  
William Lucien Irving ◽  
Brian James Thomson

Abstract Background.  Engagement of individuals infected with hepatitis C virus (HCV) with care pathways remains a major barrier to realizing the benefits of new and more effective antiviral therapies. After an exploratory study, we have undertaken an evidence-based redesign of care pathways for HCV, including the following: (1) reflex testing of anti-HCV-positive samples for HCV RNA; (2) annotation of laboratory results to recommend referral of actively infected patients to specialist clinics; (3) educational programs for primary care physicians and nurses; and (4) the establishment of needs-driven community clinics in substance misuse services. Methods.  In this study, we conducted a retrospective cohort study of progression through care pathways of individuals with a new diagnosis of HCV infection made between January 2010 and January 2012. We also analyzed patient flow through new care pathways and compared this with our baseline study of identical design. Results.  A total of 28 980 samples were tested for anti-HCV antibody during the study period and yielded 273 unique patients with a new diagnosis of HCV infection. Of these, 38% were tested in general practice, 21% were tested in substance misuse services, 23% were tested in secondary care, and 18% were tested in local prisons. Overall, 80% of patients were referred to specialist clinics, 70% attended for assessment, and 38% commenced treatment, in comparison to 49%, 27%, and 10%, respectively, in the baseline study. Referral rates from all testing sources improved. Conclusions.  This study provides timely evidence that progression through care pathways can be enhanced, and it demonstrates reduction of key barriers to eradication of HCV.


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