scholarly journals French People’s Views on the Appropriateness of Disclosing an Unsolicited Finding in Medical Genetics: A Preliminary Study

2018 ◽  
Vol 17 (4) ◽  
pp. 1-11
Author(s):  
Marion Rosier ◽  
Myriam Guedj ◽  
Patrick Calvas ◽  
Sophie Julia ◽  
Christelle Garnier ◽  
...  
Keyword(s):  
General Population ◽  
Genome Sequencing ◽  
Health Professionals ◽  
Genetic Disease ◽  
Ethical Issues ◽  
Medical Genetics ◽  
Patient’S Autonomy ◽  
Prevention And Treatment ◽  
High Penetrance ◽  
Preliminary Study

With progress in medical genetics, genome-sequencing techniques are becoming more and more efficient. However, these genetic tests may lead to the detection of unsolicited genetic findings, i.e. findings that are not the primary purpose of the screening. New ethical issues have emerged, in particular the question of whether to disclose these unsolicited findings to the patient or not. Forty-seven patients under supervision in a Medical Genetics service, 15 health professionals and 107 members of the French general population expressed their opinion regarding the appropriateness of disclosing an unsolicited high penetrance genetic finding in 36 scenarios containing three pieces of information on: a) patient information and consent;b) possibility of prevention and treatment of the detected genetic disease; and c) disclosure of the results by the physician (e.g., no disclosure of the unsolicited results). Four positions were found that were called Respect for patient’s autonomy, Beneficence to patient, Non-maleficence, and Always appropriate.

scholarly journals First French study relative to preconception genetic testing: 1500 general population participants’ opinion

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Valérie Bonneau ◽  
Mathilde Nizon ◽  
Xenia Latypova ◽  
Aurélie Gaultier ◽  
Eugénie Hoarau ◽  
...  
Keyword(s):  
Genetic Testing ◽  
General Population ◽  
Social Security ◽  
Genetic Disease ◽  
Ethical Issues ◽  
Family Doctor ◽  
Screening Strategy ◽  
Medical Prescription ◽  
Medical Progress ◽  
Increased Risk

Abstract Background Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a couple to have a child affected by a rare, recessive or X-linked, genetic disease, carrier screening is proposed in several countries. We aimed to determine the current public opinion relative to this approach in France, using either a printed or web-based questionnaire. Results Among the 1568 participants, 91% are favorable to preconception genetic tests and 57% declare to be willing to have the screening if the latter is available. A medical prescription by a family doctor or a gynecologist would be the best way to propose the test for 73%, with a reimbursement from the social security insurance. However, 19% declare not to be willing to use the test because of their ethic or moral convictions, and the fear that the outcome would question the pregnancy. Otherwise, most participants consider that the test is a medical progress despite the risk of an increased medicalization of the pregnancy. Conclusion This first study in France highlights a global favorable opinion for the preconception genetic carrier testing under a medical prescription and a reimbursement by social security insurance. Our results emphasize as well the complex concerns underpinned by the use of this screening strategy. Therefore, the ethical issues related to these tests include the risk of eugenic drift mentioned by more than half of the participants.

Attitudes of French populations towards the disclosure of unsolicited findings in medical genetics

2019 ◽  
pp. 135910531988662
Author(s):  
Marion Rosier ◽  
Myriam Guedj ◽  
Patrick Calvas ◽  
Sophie Julia ◽  
Christelle Garnier ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Health Professionals ◽  
General Public ◽  
Medical Genetics ◽  
Next Generation ◽  
Ethical Aspects ◽  
Prevention And Treatment ◽  
Patient’S Information ◽  
Response Profiles ◽  
Generation Sequencing

Next-generation sequencing techniques enable unsolicited findings to be detected. This discovery raises ethical questions concerning the return of these findings. Our study aimed to highlight the views of the general public, patients under supervision and health professionals concerning the acceptability of disclosing unsolicited results to patients. In total, 449 participants assessed scenarios, consisted of all combinations of three factors (patient’s information and consent, prevention and treatment of the unsolicited disease and doctor’s decision). The response profiles were grouped into six clusters. The participants took ethical aspects into account, but health professionals also considered the medical aspects to a greater extent.

Recruitment Policies of Non-EU/EEA Nurses and Ethical Issues

2018 ◽  
Author(s):  
Angèle Flora Mendy
Keyword(s):  
Public Opinion ◽  
Health Professionals ◽  
Ethical Issues ◽  
Health Workers ◽  
Ethical Considerations ◽  
Host Countries ◽  
Ethical Argument ◽  
The Past ◽  
The United Kingdom ◽  
Institutional Legacies

By examining policies of recruiting non-EU/EEA health workers and how ethical considerations are taken into account when employing non-EU/EEA nurses in the United Kingdom, France, and Switzerland, this chapter intends to show that the use of the so-called ‘ethical’ argument to convince national public opinion of the relevance of restrictive recruitment policies is recent (since the 1990s). The analysis highlights the fact that in addition to the institutional legacies, qualification and skills—through the process of their recognition—play an important role in the opening or restriction of the labour market to health professionals from the Global South. The legacy of the past also largely determines the place offered to non-EU/EEA health professionals in the different health systems of host countries.

scholarly journals Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Nathaly M. Sweeney ◽  
Shareef A. Nahas ◽  
Sh. Chowdhury ◽  
Sergey Batalov ◽  
Michelle Clark ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Genetic Disease ◽  
Congenital Heart ◽  
Cost Of Care ◽  
Morbidity And Mortality ◽  
Whole Genome ◽  
Microarray Gene

AbstractCongenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted genetic tests. Furthermore, cost of care for children and adults with CHD has increased dramatically. Rapid whole genome sequencing (rWGS) of newborns in intensive care units with suspected genetic diseases has been associated with increased rate of diagnosis and a net reduction in cost of care. In this study, we explored whether the clinical utility of rWGS extends to critically ill infants with structural CHD through a retrospective review of rWGS study data obtained from inpatient infants < 1 year with structural CHD at a regional children’s hospital. rWGS diagnosed genetic disease in 46% of the enrolled infants. Moreover, genetic disease was identified five times more frequently with rWGS than microarray ± gene panel testing in 21 of these infants (rWGS diagnosed 43% versus 10% with microarray ± gene panels, p = 0.02). Molecular diagnoses ranged from syndromes affecting multiple organ systems to disorders limited to the cardiovascular system. The average daily hospital spending was lower in the time period post blood collection for rWGS compared to prior (p = 0.003) and further decreased after rWGS results (p = 0.000). The cost was not prohibitive to rWGS implementation in the care of this cohort of infants. rWGS provided timely actionable information that impacted care and there was evidence of decreased hospital spending around rWGS implementation.

No Gain, No Pain: Ethics and the Genomic Revolution

2008 ◽  
Vol 89 (4) ◽  
pp. 562-570 ◽  
Author(s):  
Martin T. Hall ◽  
Anna Scheyett ◽  
Kimberly Strom-Gottfried
Keyword(s):  
Social Workers ◽  
Ethical Issues ◽  
Continuing Professional Development ◽  
Self Determination ◽  
Great Promise ◽  
Prevention And Treatment ◽  
Genetics Knowledge ◽  
Genetic Science ◽  
Genetic Contributions ◽  
Genomic Revolution

The mapping of the human genome and scientific discoveries regarding genetic contributions to disease hold great promise for the prevention and treatment of an array of conditions. Social workers and other professionals must keep abreast of these developments and the ethical dimensions of such progress. Familiar ethical provisions such as confidentiality, informed consent, self-determination, and social justice take on new meaning in light of innovations in genetic science. This article reviews ethical issues and practice implications emerging from advances in genetics knowledge, and it suggests mechanisms for continuing professional development and involvement in this important area.

scholarly journals Diagnostic path of a genetic disease: a case of Williams-Beuren syndrome in Burkina Faso

2015 ◽  
Vol 7 (4) ◽  
Author(s):  
Makoura Barro ◽  
Bintou Sanogo ◽  
Aimée S. Kissou ◽  
Ad Bafa Ibrahim Ouattara ◽  
Boubacar Nacro
Keyword(s):  
Mental Retardation ◽  
Burkina Faso ◽  
Clinical Diagnosis ◽  
Clinical Examination ◽  
Health Professionals ◽  
Genetic Disease ◽  
Neurodevelopmental Disorder ◽  
Dysmorphic Feature ◽  
Chromosome Band ◽  
Behavioral Abnormalities

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals.

scholarly journals Hubungan Pijat Bayi Dengan Ikterus Fisiologis Pada Bayi Usia 3-7 Hari

2019 ◽  
Vol 1 (1) ◽  
pp. 1-6
Author(s):  
Zakkiyatus Zainiyah
Keyword(s):  
Health Professionals ◽  
Correlation Method ◽  
P Value ◽  
Cross Sectional ◽  
Prevention And Treatment ◽  
Cross Tabulation

 Jaundice can occur in any baby, eitherbecause of the lack of touch or massage so baby islazy to breastfed making the liver ability to processbilirubin decreased and eventually happenedjaundice. Based on the results of preliminarystudies in BPS Ayu, from 10 infants aged 3-7days showed 3 babies (30%) did not havephysiological jaundice and 7 infants (70%) hadphysiological jaundice. The purpose of the studywas to analyze the correlation between babymassage with physiological jaundice in infants aged3-7 days at BPS Ayu Surabaya.This study uses ananalytical correlation method with cross-sectional approach Collecting data using observation sheets,the data taken on all populations of infants aged 37 days at BPS Ayu Pakal Surabaya by 40respondents and samples taken 36 respondents.The results were analyzed using frequencydistributions using cross tabulation test and Lambda.The results showed that, most of who are massagedwell were 19 respondents (52.8%), most of who arenot jaundiced were 21 respondents (58.3%). Theanalysis Lambda shows that the results of ρ valuewas p value (0.002) <α (0.05) so that Ho is rejected,which means there is correlation between babymassage with pphysiological jaundice in infantsaged 3-7 days at BPS Ayu Surabaya. Expected tomidwifes, or health professionals give advice tomothers on the prevention and treatment theincident of jaundice, one of them is by teachingthe proper baby massage technique.

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