Compromising Confidentiality: Where to Strike the Balance?

2021 ◽  
Vol 66 (Special Issue) ◽  
pp. 128-128
Author(s):  
James Morgan ◽  
◽  
Kirsty Mackay ◽  
Ian Thomas ◽  
◽  
...  
Keyword(s):  
Adult Children ◽  
Medical Information ◽  
Autosomal Dominant ◽  
Ethical Issues ◽  
Index Patient ◽  
Duty Of Care ◽  
Court Case ◽  
Patient Confidentiality ◽  
Central Tenet ◽  
Professional Guidance

"Patient confidentiality is a central tenet of medical practice, fundamental to ensuring the maintenance of trust in medical professionals. Yet are there any circumstances where a duty of care to others overrides patient confidentiality and allows disclosure of medical information without consent from the index patient? We present the case of a patient with CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) a progressive, neurodegenerative condition that is inherited in an autosomal dominant manner. Admitted to ICU with a severe Traumatic Brain Injury (TBI), the patient ultimately had withdrawal of life sustaining therapy following discussion with family. The patient never regained capacity following admission and had never disclosed the diagnosis of CADASIL to his daughters. The question of whether to disclose the diagnosis to adult children and alert them to their potential risk of inheriting CADASIL (the knowledge of which could fundamentally affect their life choices) raises tensions around confidentiality and any duty of care to the patient’s daughters. Previously, for inheritable risks, the prevailing discourse gave prominence to patient confidentiality. However, a recent UK court case and professional guidance is challenging this notion. ICU clinicians faced the choice of disclosing the CADASIL diagnosis to the adult children, breaking patient confidentiality or remaining silent so allowing potential harm to befall them and even future generations. We examine the ethical issues this raises and suggest how clinicians, if faced with a similar situation in future, might proceed. "

scholarly journals Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene

2002 ◽  
pp. 649-656 ◽  
Author(s):  
J Rutishauser ◽  
P Kopp ◽  
MB Gaskill ◽  
TJ Kotlar ◽  
GL Robertson
Keyword(s):  
Diabetes Insipidus ◽  
Autosomal Dominant ◽  
De Novo ◽  
Index Patient ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Heterozygous Mutation ◽  
Posterior Pituitary ◽  
Recurrent Mutations ◽  
Neurophysin Ii

OBJECTIVE: To test further the hypothesis that autosomal dominant neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the vasopressin-neurophysin II (AVP-NPII) gene that exert a dominant negative effect by producing a precursor that misfolds, accumulates and eventually destroys the neurosecretory neurons. METHODS: Antidiuretic function, magnetic resonance imaging (MRI) of the posterior pituitary and AVP-NPII gene analysis were performed in 10 affected members of three unreported families with adFNDI. RESULTS: As in previously studied patients, adFNDI apparently manifested after birth, was due to a partial or severe deficiency of AVP, and was associated with absence or diminution of the hyperintense MRI signal normally emitted by the posterior pituitary, and with a heterozygous mutation in the AVP-NPII gene. In family A, a transition 275G-->A, which predicts replacement of cysteine 92 by tyrosine (C92Y), was found in the index patient, but not in either parent, indicating that it arose de novo. The six affected members of family B had a transversion 160G-->C, which predicts replacement of glycine 54 by arginine (G54R). It appeared de novo in the oldest affected member, and was transmitted in a dominant manner. In family C, six of 15 living affected members were tested and all had a novel transition, 313T-->C, which predicts replacement of cysteine 105 by arginine (C105R). It, too, was transmitted in a dominant manner. As in other patients with adFNDI, the amino acids replaced by the mutations in these three families are known to be particularly important for correct and efficient folding of the precursor. CONCLUSIONS: These findings are consistent with the malfolding/toxicity hypothesis underlying the pathogenesis of adFNDI. Moreover, they illustrate the value of genetic analysis in all patients who develop idiopathic diabetes insipidus in childhood, even if no other family members are affected.

Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development

2018 ◽  
Vol 49 (06) ◽  
pp. 379-384 ◽  
Author(s):  
Kerstin Becker ◽  
Peter Herkenrath ◽  
Christoph Düchting ◽  
Friederike Körber ◽  
Pablo Landgraf ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Index Patient ◽  
Speech Development ◽  
Episodic Ataxia ◽  
Cerebellar Hemisphere ◽  
First Episode ◽  
Whole Exome ◽  
Neurologic Disorders ◽  
Left Cerebellar Hemisphere ◽  
Impaired Speech

AbstractMutations in SCN2A are associated with a heterogeneous clinical spectrum including epilepsy and autism. Here, we have identified a peculiar phenotype associated with vaccination related exacerbations of ataxia. We report the first family with three individuals affected by SCN2A-associated episodic ataxia (EA) with impaired speech development. The index patient manifested his first episode of subacute cerebellar ataxia at the age of 12 months, 3 weeks after vaccinations for measles, mumps, rubella, and varicella. Cranial magnetic resonance imaging showed a lesion of the left cerebellar hemisphere, which was first considered as a potential cause of the ataxia. The patient fully recovered within 3 weeks, but developed three very similar episodes of transient ataxia within the following 24 months. Whole exome sequencing of the index patient revealed a heterozygous autosomal-dominant mutation in SCN2A (NM_021007, c.4949T > C; p.L1650P), which was confirmed in the likewise affected mother, and was then also identified in the younger brother who developed the first episode of ataxia. We hereby extend the recently described spectrum of SCN2A-associated neurologic disorders, emphasizing that SCN2A mutations should also be considered in familial cases of EA. Coincidental imaging findings or other associated events such as immunizations should not protract genetic investigations.

Computers in medicine and health care

2019 ◽  
Author(s):  
Ronald M. Baecker
Keyword(s):  
Health Care ◽  
Precision Medicine ◽  
Human Body ◽  
Medical Information ◽  
Adverse Drug Events ◽  
Ethical Issues ◽  
Body Parts ◽  
Huge Impact ◽  
Working Together ◽  
Online Availability

As with the chapter on learning, we begin our discussion of health applications by examining influential early visions of the possible role of computers in improving health care and medicine. We then look at the great variety of roles played by current digital technologies in this field. We first consider the online availability of health information. There are two possible sources: one from respected centres of expertise, the other from consumers of medical care, that is, patients, who in working together form what may be viewed as communities of care. There is strong evidence that people are using these online medical resources to become more intelligent guardians of their own health and to support themselves when seeking help from physicians. Next, we examine the care improvements promised by personal health and electronic medical records. Progress here has been disappointingly slow; we shall discuss the mix of technical, cultural, administrative, interpersonal, and financial reasons for the sluggishness in development and deployment. Two particularly interesting cases of medical information are data dealing with adverse drug reactions and interactions, commonly known as adverse drug events (ADEs), and the use of big data and social media in epidemic surveillance and control, by which we are becoming better equipped to indicate, predict, and track outbreaks of disease. Computers have made a huge impact on medical education through the development of human body simulators. There also continue to be more and more advanced uses of technology embedded within the human body, either to augment the functioning of organs or to replace body parts that no longer work, which could possibly result in bionic people or androids in the future. We shall present some examples indicating the pace at which these technologies are developing. Recent advances in understanding the human genome have enabled a new form of medicine called precision medicine. The goal is to use genetic screening of patients to enable more specific treatments than were hitherto possible. Precision medicine also enables what some call designer babies. We shall introduce policy and ethical issues raised by this concept.

Confidentiality and Release of Medical Information

2018 ◽  
pp. 25-37
Author(s):  
Rebekah Ley ◽  
Natalie Hayes
Keyword(s):  
Medical Information ◽  
Common Law ◽  
General Medical Council ◽  
Tort Law ◽  
European Convention ◽  
Regulatory Body ◽  
Medical Council ◽  
Patient Consent ◽  
Practice Of Medicine ◽  
Professional Guidance

The duty of confidentiality that a doctor owes to a patient is probably as old as the practice of medicine and is essential for trust between doctors and their patients. However, it is not an absolute duty and there are instances when a doctor is entitled, and in certain circumstances obliged, to disclose confidential information without patient consent to do so. This chapter is concerned with doctor–patient confidentiality and when medical information can reasonably be released. Confidentiality is covered by a mixture of UK statute, common law, tort law, and the European Convention on Human Rights. It is also a core component of the professional guidance given to doctors by the profession’s regulatory body, the General Medical Council, to which all doctors registered with it are expected to adhere.

The Ethics of Medical AI and the Physician-Patient Relationship

2019 ◽  
Vol 29 (1) ◽  
pp. 115-121 ◽  
Author(s):  
SALLY DALTON-BROWN
Keyword(s):  
Healthcare Workers ◽  
Data Privacy ◽  
Medical Information ◽  
Ethical Issues ◽  
Patient Relationship ◽  
Physician Patient Relationship ◽  
Positive Shift ◽  
Physician Relationship ◽  
Physician Patient

Abstract:This article considers recent ethical topics relating to medical AI. After a general discussion of recent medical AI innovations, and a more analytic look at related ethical issues such as data privacy, physician dependency on poorly understood AI helpware, bias in data used to create algorithms post-GDPR, and changes to the patient–physician relationship, the article examines the issue of so-called robot doctors. Whereas the so-called democratization of healthcare due to health wearables and increased access to medical information might suggest a positive shift in the patient-physician relationship, the physician’s ‘need to care’ might be irreplaceable, and robot healthcare workers (‘robot carers’) might be seen as contributing to dehumanized healthcare practices.

scholarly journals Ethics support for GPs: what should it look like?

2016 ◽  
Vol 8 (1) ◽  
pp. 75 ◽  
Author(s):  
Monika Clark-Grill
Keyword(s):  
Primary Care ◽  
General Practice ◽  
Support Services ◽  
Ethics Education ◽  
Ethical Issues ◽  
Daily Basis ◽  
Complex Nature ◽  
Individual Interviews ◽  
Ethics Support ◽  
Professional Guidance

ABSTRACT INTRODUCTION Ethics support services for hospital clinicians have become increasingly common globally but not as yet in New Zealand. However, an initiative to change this is gathering momentum. Its slogan ‘Clinical ethics is everyone’s business’ indicates that the aim is to encompass all of health care, not just the hospital sector. General Practitioners (GPs) deal with ethical issues on a daily basis. These issues are often quite different from ethical issues in hospitals. To make future ethics support relevant for primary care, local GPs were interviewed to find out how they might envisage ethics support services that could be useful to them. METHODS A focus group interview with six GPs and semi-structured individual interviews with three GPs were conducted. Questions included how they made decisions on ethical issues at present, what they perceived as obstacles to ethical reflection and decision-making, and what support might be helpful. FINDINGS Three areas of ethics support were considered potentially useful: Formal ethics education during GP training, access to an ethicist for assistance with analysing an ethical issue, and professional guidance with structured ethics conversations in peer groups. CONCLUSION The complex nature of general practice requires GPs to be well educated and supported for handling ethical issues. The findings from this study could serve as input to the development of ethics support services. KEYWORDS General practice; primary care; ethics; support; education

CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy

2017 ◽  
Vol 55 (9) ◽  
Author(s):  
Xing-Biao Qiu ◽  
Xin-Kai Qu ◽  
Ruo-Gu Li ◽  
Hua Liu ◽  
Ying-Jia Xu ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Transcriptional Activity ◽  
Autosomal Dominant ◽  
Cardiac Development ◽  
Index Patient ◽  
Loss Of Function ◽  
Zinc Finger Transcription Factor ◽  
Complete Penetrance ◽  
Familial Dilated Cardiomyopathy ◽  
Postnatal Adaptation

AbstractBackground:The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of theMethods:The coding exons and splicing junction sites of theResults:A novel heterozygous CASZ1 mutation, p.K351X, was identified in an index patient with DCM. Genetic analysis of the mutation carrier’s family showed that the mutation co-segregated with DCM, which was transmitted in an autosomal dominant pattern with complete penetrance. The nonsense mutation, which was absent in 400 referential chromosomes, altered the amino acid that was highly conserved evolutionarily. Biological investigations revealed that the mutant CASZ1 had no transcriptional activity.Conclusions:The current study reveals

Extending the Theory of Awareness Contexts by Examining the Ethical Issues Faced by Nurses in Terminal Care

1997 ◽  
Vol 4 (5) ◽  
pp. 370-379 ◽  
Author(s):  
Matthew V Morrissey
Keyword(s):  
Terminal Care ◽  
Terminal Illness ◽  
Medical Information ◽  
Ethical Issues ◽  
Hospital Setting ◽  
Terminal Condition ◽  
Bad News ◽  
Professional Boundaries ◽  
The Family ◽  
Emotional Demands

The breaking of bad news in a hospital setting, particularly to patients in a terminal condition, highlights some complex and often emotive ethical issues for nurses. One theory that examines the way in which individuals react to bad news such as a terminal illness, is the theory of awareness contexts. However, this theory may be limited by failing to recognize the complexity of the situation and the ethical issues involved for nurses caring for terminally ill patients. Furthermore, contexts of awareness are influenced to a much greater extent by relationships with nurses than simply by the delivery of medical information. Even when information is given to the client and the family, the nurse is involved in helping them to know the meaning of this information. In a hospital, the nurse is faced with emotional demands by clients, families and colleagues, complex issues of advocacy, and professional boundaries and responsibilities. It is the author’s wish to examine the reality of clinical practice for nurses, thus further extending the theory of awareness contexts.

scholarly journals Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

2021 ◽  
Vol 12 ◽  
Author(s):  
Katja M. Eckl ◽  
Robert Gruber ◽  
Louise Brennan ◽  
Andrew Marriott ◽  
Roswitha Plank ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Regulatory Element ◽  
Index Patient ◽  
Hair Shaft ◽  
Epidermal Differentiation ◽  
Cysteine Protease Inhibitor ◽  
Dominant Inheritance ◽  
Keratosis Follicularis ◽  
Cystatin M

Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc metalloprotease that is involved in the cleavage of sterol regulatory element binding proteins important for the control of transcription. Few families have been identified with an autosomal dominant inheritance of KFSD. We present two members of an Austrian family with a phenotype of KFSD, a mother and her son. The disease was not observed in her parents, pointing to a dominant inheritance with a de novo mutation in the index patient. Using whole-exome sequencing, we identified a heterozygous missense variant in CST6 in DNA samples from the index patient and her affected son. In line with family history, the variant was not present in samples from her parents. CST6 codes for cystatin M/E, a cysteine protease inhibitor. Patient keratinocytes showed increased expression of cathepsin genes CTSL and CTSV and reduced expression of transglutaminase genes TGM1 and TGM3. A relative gain of active, cleaved transglutaminases was found in patient keratinocytes compared to control cells. The variant found in CST6 is expected to affect protein targeting and results in marked disruption of the balance between cystatin M/E activity and its target proteases and eventually transglutaminases 1 and 3. This disturbance leads to an impairment of terminal epidermal differentiation and proper hair shaft formation seen in KFSD.

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