scholarly journals In the family: access to, and communication of, familial information in clinical practice

2021 ◽  
Author(s):  
Anneke Lucassen ◽  
Angus Clarke
Keyword(s):  
Clinical Practice ◽  
Genetic Testing ◽  
Genetic Information ◽  
The Family ◽  
Close Relatives

AbstractHow an individual’s genetic information is governed by confidentiality, and how the interests of others—such as close relatives—in knowing such information might be respected, has been the topic of much debate ever since genetic testing has become more prevalent. In this paper, two authors who often appear to have different views on familial disclosure, discuss where they agree on this topic.

scholarly journals Sociocultural variation in attitudes toward use of genetic information and participation in genetic research by race in the United States: implications for precision medicine

2016 ◽  
Vol 23 (4) ◽  
pp. 782-786 ◽  
Author(s):  
Timothy Dye ◽  
Dongmei Li ◽  
Margaret Demment ◽  
Susan Groth ◽  
Diana Fernandez ◽  
...  
Keyword(s):  
United States ◽  
Clinical Practice ◽  
Genetic Testing ◽  
Precision Medicine ◽  
Generalized Linear Models ◽  
Genetic Information ◽  
Linear Models ◽  
Genetic Research ◽  
The United States ◽  
Genetic Risks

Abstract Background “Precision medicine” (PM) requires researchers to identify actionable genetic risks and for clinicians to interpret genetic testing results to patients. Whether PM will equally benefit all populations or exacerbate existing disparities is uncertain. Methods We ascertained attitudes toward genetic testing and genetic research by race in the United States using the online Amazon mTurk US workforce (n = 403 White; n = 56 African American (AA)). Generalized linear models were used to test differences in beliefs and preferences by race, adjusting for sociodemographics and prior genetic experience. Results AA were less likely than White to believe that genetic tests should be promoted or made available. Further, AA were less likely to want genetic testing results or to participate in genetic research. Conclusions Important dimensions that underlay PM are not universally accepted by all populations. Without clear attention to concerns, AA communities may not equally benefit from the rapidly-emerging trend in PM-centered research and clinical practice.

GENETICS AND THE HEART: THE BASIS FOR INTRODUCING GENETIC TESTING INTO CLINICAL PRACTICE

2020 ◽  
Vol 99 (3) ◽  
pp. 8-15
Author(s):  
N.V. Shcherbakova ◽  
◽  
V.Yu. Voinova ◽  
M.A. Shkolnikova ◽  
◽  
...  
Keyword(s):  
Clinical Practice ◽  
Genetic Testing

Therapeutic role of vegetables in Respiratory Diseases – A critical review from Ayurvedic classics.

2016 ◽  
Vol 1 (3) ◽  
Author(s):  
Dr. Raghavendra Naik ◽  
Shweta Vekariya ◽  
R. N. Acharya ◽  
Sneha D. Borkar
Keyword(s):  
Clinical Practice ◽  
Respiratory Disease ◽  
Respiratory System ◽  
Critical Review ◽  
Critical Analysis ◽  
Respiratory Diseases ◽  
Unique Contribution ◽  
Pharmacological Activities ◽  
The Family

The concept of Pathya (wholesome diet) is an unique contribution of Ayurveda, which plays an important role in prevention and management of many diseases. “Shakavarga”, a category under dietetics in classical texts of Ayurveda enlisted different vegetables with their properties and indications in different disease conditions. These vegetables can be prescribed as Pathya (wholesome diet) in clinical practice. In the present review, plants described under Shakavarga, indicated as Pathya in different diseases related to Pranavaha Srotas (Respiratory system) were compiled from 15 different Ayurvedic classical texts. Critical analysis of the compiled data reveals that out of 332 vegetables described under Shakavarga, 44 are indicated in respiratory disease like Shvasa (Dyspnoea/Asthma), Kasa (Cough), Peenasa (Chronic rhinitis) and Hikka (Hiccup). Among them, botanical identity of 42 classical plants has been established and maximum number of vegetables belongs to the family cucurbitaceae (10) followed by solanaceae (4). Some of these vegetables have been reported for their various pharmacological activities related to prevention and management of diseases related to Pranavaha Srotas (Respiratory system). These vegetables are reported for their anti-inflammatory (16), antioxidant (14), anti-allergic (6) and antitussive (3) activities. The observed result may be helpful in use of vegetables as Pathya (wholesome diet) and planning further scientific studies about the efficacy of these plants on prevention as well as management of respiratory diseases.

scholarly journals Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Functional Characterization ◽  
The Family ◽  
Novel Variant ◽  
History Of ◽  
Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

scholarly journals Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

2020 ◽  
Vol 11 (05) ◽  
pp. 755-763
Author(s):  
Shibani Kanungo ◽  
Jayne Barr ◽  
Parker Crutchfield ◽  
Casey Fealko ◽  
Neelkamal Soares
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Health Care Providers ◽  
Genetic Information ◽  
Ethical Issues ◽  
Interdisciplinary Approach ◽  
Care Providers ◽  
Ethical Considerations ◽  
Electronic Health ◽  
Genetic Results

Abstract Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results. Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians. Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data. Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

scholarly journals Genetic Testing for Minors: Comparison between Italian and British Guidelines

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Pamela Tozzo ◽  
Luciana Caenazzo ◽  
Daniele Rodriguez
Keyword(s):  
Clinical Practice ◽  
Genetic Testing ◽  
Ethical Issues ◽  
Social Issues ◽  
Carrier Testing ◽  
European Countries ◽  
National Guidelines ◽  
Common Framework ◽  
Professional Guidelines

Genetic testing in children raises many important ethical, legal, and social issues. One of the main concerns is the ethically inappropriate genetic testing of minors. Various European countries established professional guidelines which reflect the different countries perspectives regarding the main ethical issues involved. In this paper, we analyze the Italian and the British guidelines by highlighting differences and similarities. We discuss presymptomatic, predictive, and carrier testing because we consider them to be the more ethically problematic types of genetic testing in minors. In our opinion, national guidelines should take into account the different needs in clinical practice. At the same time, in the case of genetic testing the national and supranational protection of minors could be strengthened by approving guidelines based on a common framework of principles and values. We suggest that the Oviedo Convention could represent an example of such a common framework or, at least, it could lead to articulate it.

Ways of coping with excessive drug use in the family: A provisional typology based on the accounts of 50 close relatives

1992 ◽  
Vol 2 (3) ◽  
pp. 163-183 ◽  
Author(s):  
Jim Orford ◽  
Kate Rigby ◽  
Tony Miller ◽  
Anne Tod ◽  
Gerald Bennett ◽  
...  
Keyword(s):  
Drug Use ◽  
Ways Of Coping ◽  
The Family ◽  
Close Relatives

Genetic Testing, Genetic Information, and the Role of Maternal-Child Health Nurses in Israel

2006 ◽  
Vol 38 (3) ◽  
pp. 219-224 ◽  
Author(s):  
Sivia Barnoy ◽  
Dorit Appel ◽  
Chava Peretz ◽  
Hana Meiraz ◽  
Mally Ehrenfeld
Keyword(s):  
Genetic Testing ◽  
Child Health ◽  
Genetic Information ◽  
Maternal Child Health ◽  
Maternal Child

scholarly journals Clinical Practice Recommendations on Genetic Testing of CYP2C9 and VKORC1 Variants in Warfarin Therapy

2015 ◽  
Vol 37 (4) ◽  
pp. 428-436 ◽  
Author(s):  
Kaitlyn Shaw ◽  
Ursula Amstutz ◽  
Richard B. Kim ◽  
Lawrence J. Lesko ◽  
Jacques Turgeon ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Genetic Testing ◽  
Warfarin Therapy ◽  
Practice Recommendations

The Sla2p/HIP1/HIP1R family: similar structure, similar function in endocytosis?

2010 ◽  
Vol 38 (1) ◽  
pp. 187-191 ◽  
Author(s):  
Irit Gottfried ◽  
Marcelo Ehrlich ◽  
Uri Ashery
Keyword(s):  
Interacting Protein ◽  
The Past ◽  
Structure And Dynamics ◽  
Binding Partners ◽  
Conserved Domain ◽  
The Family ◽  
Genetic Techniques ◽  
Close Relatives ◽  
Biochemical Imaging ◽  
Huntingtin Interacting Protein

HIP1 (huntingtin interacting protein 1) has two close relatives: HIP1R (HIP1-related) and yeast Sla2p. All three members of the family have a conserved domain structure, suggesting a common function. Over the past decade, a number of studies have characterized these proteins using a combination of biochemical, imaging, structural and genetic techniques. These studies provide valuable information on binding partners, structure and dynamics of HIP1/HIP1R/Sla2p. In general, all suggest a role in CME (clathrin-mediated endocytosis) for the three proteins, though some differences have emerged. In this mini-review we summarize the current views on the roles of these proteins, while emphasizing the unique attributes of each family member.

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