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.

scholarly journals Distribution of Cardiovascular Risk Factors in Patients with Psoriasis

2019 ◽  
Vol 70 (5) ◽  
pp. 1643-1648
Author(s):  
Ana Maria Alexandra Stanescu ◽  
Ioana Veronica Grajdeanu ◽  
Bogdan Serban ◽  
Camelia Cristina Diaconu
Keyword(s):  
Risk Factors ◽  
Cardiovascular Disease ◽  
Cardiovascular Risk ◽  
General Population ◽  
Cardiovascular Risk Factors ◽  
Family Doctor ◽  
Family Doctors ◽  
Cardiovascular Comorbidities ◽  
Increased Risk ◽  
Systemic Disorder

Psoriasis is a chronic inflammatory systemic disorder that associates many cardiovascular comorbidities. The association between psoriasis and cardiovascular disease is a complex one, which implies many risk factors, such as age, gender, heredity, smoking, alcohol and stress. The prognosis of patients with psoriasis may be improved by identifying and reduction of these cardiovascular risk factors. The objective of our study was to determine the prevalence of cardiovascular risk factors among patients with psoriasis from Bucharest and Ilfov county, Romania. 634 individuals from the general population were initially included. From these individuals, 208 patients with psoriasis have been selected for inclusion in our observational study. The patients were selected from Elias Emergency Hospital of Bucharest, Romania, and through the family doctors praxis, between 2010-2017. Of the 634 individuals from the general population, 208 patients (33%) were identified as patients with a diagnosis of vulgar psoriasis, confirmed by the dermatologist, forming the study group. The presence of risk factors is consistent with the presence of cardiovascular disease (23%) in the studied group. Patients with psoriasis, without cardiovascular diseases, have an increased risk of developing them throughout their lives. Patients with psoriasis have a very high risk of developing life-long cardiovascular disease, because of a multitude of risk factors associated with psoriasis. Intervention on modifiable risk factors for cardiovascular disease can be mediated by a family doctor, who can monitor the development over time and may also intervene early when appropriate.

scholarly journals A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

PLoS Genetics ◽  
2020 ◽  
Vol 16 (11) ◽  
pp. e1008802
Author(s):  
Catherine Tcheandjieu ◽  
Matthew Aguirre ◽  
Stefan Gustafsson ◽  
Priyanka Saha ◽  
Praneetha Potiny ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Genetic Testing ◽  
General Population ◽  
Association Study ◽  
Target Genes ◽  
Rare Variants ◽  
Body Height ◽  
Genetic Syndrome ◽  
Human Phenotype ◽  
Increased Risk

The clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a single phenotype of a complex syndrome may not meet criteria for clinical diagnosis or genetic testing. Here, we present a phenome-wide association study (PheWAS) approach to systematically explore the phenotypic expressivity of common and rare alleles in genes associated with four well-described syndromic diseases (Alagille (AS), Marfan (MS), DiGeorge (DS), and Noonan (NS) syndromes) in the general population. Using human phenotype ontology (HPO) terms, we systematically mapped 60 phenotypes related to AS, MS, DS and NS in 337,198 unrelated white British from the UK Biobank (UKBB) based on their hospital admission records, self-administrated questionnaires, and physiological measurements. We performed logistic regression adjusting for age, sex, and the first 5 genetic principal components, for each phenotype and each variant in the target genes (JAG1, NOTCH2 FBN1, PTPN1 and RAS-opathy genes, and genes in the 22q11.2 locus) and performed a gene burden test. Overall, we observed multiple phenotype-genotype correlations, such as the association between variation in JAG1, FBN1, PTPN11 and SOS2 with diastolic and systolic blood pressure; and pleiotropy among multiple variants in syndromic genes. For example, rs11066309 in PTPN11 was significantly associated with a lower body mass index, an increased risk of hypothyroidism and a smaller size for gestational age, all in concordance with NS-related phenotypes. Similarly, rs589668 in FBN1 was associated with an increase in body height and blood pressure, and a reduced body fat percentage as observed in Marfan syndrome. Our findings suggest that the spectrum of associations of common and rare variants in genes involved in syndromic diseases can be extended to individual phenotypes within the general population.

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.

Practical and Ethical Issues with Genetic Screening

Hematology ◽  
2005 ◽  
Vol 2005 (1) ◽  
pp. 498-502 ◽  
Author(s):  
John E. Wagner
Keyword(s):  
Genetic Testing ◽  
Single Cell ◽  
Genetic Screening ◽  
Genetic Disease ◽  
Validation Studies ◽  
Ethical Issues ◽  
Legal Issues ◽  
Risk Of Disease ◽  
Based Medicine ◽  
Disease Specific

Abstract Clinical hematologists are faced with a growing list of new genetic-based tools for identifying a patient’s risk of disease. While many of the disease-specific tests are readily available, validation studies are required. Furthermore, genetic-based tests are being pushed to their technical limits, such as testing a single cell prior to embryo selection and transfer for couples at risk of genetic disease. As a result, misdiagnosis or misinterpretation of the data may result. As new genetic testing opportunities proliferate, the hematologist needs to be aware of the medical and legal issues surrounding their use. Furthermore, the hematologist needs to consider the psychological, ethical and social implications of this new field of genomic-based medicine.

Ethical Issues Relevant to the Assessment of Suicide Risk in Nonclinical Research Settings

Crisis ◽  
2012 ◽  
Vol 33 (1) ◽  
pp. 54-59 ◽  
Author(s):  
Carolyn M. Wilson ◽  
Bruce K. Christensen
Keyword(s):  
Undergraduate Students ◽  
Suicide Risk ◽  
Ethical Issues ◽  
Current Paper ◽  
Self Report ◽  
Ethical Guidelines ◽  
Schizotypal Personality ◽  
Increased Risk ◽  
Genetic Features ◽  
Conducting Research

Background: Our laboratory recently confronted this issue while conducting research with undergraduate students at the University of Waterloo (UW). Although our main objective was to examine cognitive and genetic features of individuals with schizotypal personality disorder (SPD), the study protocol also entailed the completion of various self-report measures to identify participants deemed at increased risk for suicide. Aims and Methods: This paper seeks to review and discuss the relevant ethical guidelines and legislation that bear upon a psychologist’s obligation to further assess and intervene when research participants reveal that they are at increased risk for suicide. Results and Conclusions: In the current paper we argue that psychologists are ethically impelled to assess and appropriately intervene in cases of suicide risk, even when such risk is revealed within a research context. We also discuss how any such obligation may potentially be modulated by the research participant’s expectations of the role of a psychologist, within such a context. Although the focus of the current paper is on the ethical obligations of psychologists, specifically those practicing within Canada, the relevance of this paper extends to all regulated health professionals conducting research in nonclinical settings.

CLINICAL CHALLENGES FOR ANESTHESIOLOGIST FACING PATIENT WITH ACROMEGALY. CASE REPORT

2020 ◽  
Vol 30 (3) ◽  
pp. 56-59
Author(s):  
Jūratė Gudaitytė ◽  
Justina Jermolajevaitė ◽  
Martynas Judickas
Keyword(s):  
Atrial Fibrillation ◽  
Case Report ◽  
General Population ◽  
Metabolic Disorders ◽  
Upper Airway ◽  
Cardiovascular Complications ◽  
Case Presentation ◽  
Increased Risk ◽  
Fluid Regulation ◽  
Class Iv

Background and objectives: Acromegaly is endocri­nal disorder which results in changes involving ge­neral appearance as well as upper airway abnorma­lities, cardiovascular and metabolic disorders which can aggravate the anesthesia and can lead to compli­cations. We aim to discuss the challenges for anesthe­siologist that occurs facing patient with acromegaly and are necessary to investigate before performing any kind of intervention. Case Presentation: 79 years old male patient presen­ted the hospital with recently diagnosed acromegaly for rectal prolapse surgery. From anamnesis he had NYHAIII with cardiomyopathy, atrial fibrillation and arterial hypertension, also multiple old compressive fractures Th10 – L5. He was graded with Mallam­pati score IV and ASA class IV. The complemen­tary examinations were made to assess the possible complications. In induction of general anesthesia the intubation was performed using fibro- bronchoscope and anesthesia went without complications except hypotension which was managed. After surgery the patient was leaded to the postoperative room for furt­her monitoring. Discussion and Conclusion: Acromegalic patients have an increased risk of difficulty during anesthe­sia compared to general population due to difficult intubation, cardiovascular complications , OSA , alte­ration in intraoperative glucose intolerance and fluid regulation. Therefore profound investigation and as­sessment are necessary to predict and prepare for possible difficulties in the surgery room.

scholarly journals Cardiovascular disease risk factors of ultra-Orthodox Jewish women in Israel: a comparison study

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
E Leiter ◽  
K L Greenberg ◽  
M Donchin ◽  
O Keidar ◽  
S Siemiatycki ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cardiovascular Disease ◽  
General Population ◽  
Secondhand Smoke ◽  
Smoke Exposure ◽  
Orthodox Jewish ◽  
Minority Population ◽  
Secondhand Smoke Exposure ◽  
Community Based ◽  
Increased Risk

Abstract Background Women from low socio-economic, culturally insular populations are at increased risk for cardiovascular disease (CVD). The ultra-Orthodox Jewish (UOJ) community in Israel is a difficult to access, rapidly growing low socio-economic, insular minority with numerous obstacles to health. The current study investigates CVD-related risk factors (RF) in a sample of OUJ women, comparing sample characteristics with the general population. Addressing the questions, 'Are UOJ women at increased risk for CVD?', 'Which RFs should be addressed beyond the general population's?', this study can inform public health initiatives (PHI) for this and similar populations. Methods Self-administered questionnaires completed by a cluster randomized sample of 239 women from a UOJ community included demographics, fruit, vegetables, and sweetened drink consumption, secondhand smoke exposure, physical activity (PA) engagement, and BMI. Population statistics utilized for comparison of demographic and cardiovascular risk factors were obtained from government-sponsored national surveys. Results Compared with the general population, UOJ women were less likely to consume 5 fruits and vegetables a day (12.7% vs. 24.3%, p<.001) and more likely to consume > 5 cups of sweetened beverages a day (18.6% vs. 12.6%, p=.019). UOJ women also reported less secondhand smoke exposure (7.2% vs. 51.4%, p<.001) and higher rates of PA recommendation adherence (60.1% vs. 25.6%, p<.0001) than the general population. Obesity was higher in UOJ women (24.3% vs. 16.1%, p<.0001). Conclusions This study suggests that PHIs in this population target healthy weight maintenance, nutrition, and PA. As a consequence of this study, the first CVD prevention intervention has been implemented in this population, targeting the identified RFs. Utilizing a mixed methods and community-based participatory approach, this innovative 3-year intervention reached over 2,000 individuals. Key messages This study identified nutrition risk behaviors and high levels of obesity in a difficult to access, minority population. This study informed the planning and implementation of a community-based PHI.

scholarly journals Ethical challenges of the healthcare transition to adult antiretroviral therapy (ART) clinics for adolescents and young people with HIV in Uganda

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Scovia Nalugo Mbalinda ◽  
Sabrina Bakeera-Kitaka ◽  
Derrick Lusota Amooti ◽  
Eleanor Namusoke Magongo ◽  
Philippa Musoke ◽  
...  
Keyword(s):  
Young People ◽  
Patient Autonomy ◽  
Ethical Issues ◽  
Transition Process ◽  
Hiv Care ◽  
Ethical Challenges ◽  
Successful Transition ◽  
Healthcare Transition ◽  
Increased Risk ◽  
Retention In Hiv Care

Abstract Background Whereas many adolescents and young people with HIV require the transfer of care from paediatric/adolescent clinics to adult ART clinics, this transition is beset with a multitude of factors that have the potential to hinder or facilitate the process, thereby raising ethical challenges of the transition process. Decisions made regarding therapy, such as when and how to transition to adult HIV care, should consider ethical benefits and risks. Understanding and addressing ethical challenges in the healthcare transition could ensure a smooth and successful transition. The purpose of this study was to analyze the ethical challenges of transitioning HIV care for adolescents into adult HIV clinics. Methods Data presented were derived from 191 adolescents attending nine different health facilities in Uganda, who constituted 18 focus group discussions. In the discussions, facilitators and barriers regarding adolescents transitioning to adult HIV clinics were explored. Guided by the Silences Framework for data interpretation, thematic data analysis was used to analyze the data. The principles of bioethics and the four-boxes ethics framework for clinical care (patient autonomy, medical indications, the context of care, and quality of life) were used to analyze the ethical issues surrounding the transition from adolescent to adult HIV care. Results The key emerging ethical issues were: reduced patient autonomy; increased risk of harm from stigma and loss of privacy and confidentiality; unfriendly adult clinics induce disengagement and disruption of the care continuum; patient preference to transition as a cohort, and contextual factors are critical to a successful transition. Conclusion The priority outcomes of the healthcare transition for adolescents should address ethical challenges of the healthcare transition such as loss of autonomy, stigma, loss of privacy, and discontinuity of care to ensure retention in HIV care, facilitate long-term self-care, offer ongoing all-inclusive healthcare, promote adolescent health and wellbeing and foster trust in the healthcare system. Identifying and addressing the ethical issues related to what hinders or facilitates successful transitions with targeted interventions for the transition process may ensure adolescents and young people with HIV infection remain healthy across the healthcare transition.

Methamphetamine use and psychotic symptoms: findings from a New Zealand longitudinal birth cohort

2021 ◽  
pp. 1-8
Author(s):  
Joseph M. Boden ◽  
James A. Foulds ◽  
Giles Newton-Howes ◽  
Rebecca McKetin
Keyword(s):  
New Zealand ◽  
General Population ◽  
Birth Cohort ◽  
Individual Characteristics ◽  
Psychotic Symptoms ◽  
Confounding Factors ◽  
Long Term Effects ◽  
Methamphetamine Use ◽  
Increased Risk ◽  
Psychosis Risk

Abstract Background This study examined the association between methamphetamine use and psychotic symptoms in a New Zealand general population birth cohort (n = 1265 at birth). Methods At age 18, 21, 25, 30, and 35, participants reported on their methamphetamine use and psychotic symptoms in the period since the previous interview. Generalized estimating equations modelled the association between methamphetamine use and psychotic symptoms (percentage reporting any symptom, and number of symptoms per participant). Confounding factors included childhood individual characteristics, family socioeconomic circumstances and family functioning. Long term effects of methamphetamine use on psychotic symptoms were assessed by comparing the incidence of psychotic symptoms at age 30–35 for those with and without a history of methamphetamine use prior to age 30. Results After adjusting for confounding factors and time-varying covariate factors including concurrent cannabis use, methamphetamine use was associated with a modest increase in psychosis risk over five waves of data (adjusted odds ratio (OR) 1.33, 95% confidence interval (CI) 1.03–1.72 for the percentage measure; and IRR 1.24, 95% CI 1.02–1.50 for the symptom count measure). The increased risk of psychotic symptoms was concentrated among participants who had used at least weekly at any point (adjusted OR 2.85, 95% CI 1.21–6.69). Use of methamphetamine less than weekly was not associated with increased psychosis risk. We found no evidence for a persistent vulnerability to psychosis in the absence of continuing methamphetamine use. Conclusion Methamphetamine use is associated with increased risk of psychotic symptoms in the general population. Increased risk is chiefly confined to people who ever used regularly (at least weekly), and recently.

scholarly journals Extended gene panel testing in lobular breast cancer

2021 ◽  
Author(s):  
Elke M. van Veen ◽  
D. Gareth Evans ◽  
Elaine F. Harkness ◽  
Helen J. Byers ◽  
Jamie M. Ellingford ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Detection Rate ◽  
Gene Panel ◽  
Lobular Breast Cancer ◽  
Germline Variants ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing ◽  
Increased Risk

AbstractPurpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53.Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83–66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58–23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52–29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.

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