ethique_genetics

Ethical concerns of direct-to-consumer genetic testing.

Wed, 01 May 2024 04:00:00 +0000

Journal of the American Academy of Dermatology; 05/01/2024
(AN 176561940); ISSN: 01909622
CINAHL Complete

'Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives

Sat, 06 Apr 2024 08:28:32 +0000

Author Names: Kariyawasam D.S.,Scarfe J.,Meagher C.,Farrar M.A.,Bhattacharya K.,Carter S.M.,Newson A.J.,Otlowski M.,Watson J.,Millis N.,Norris S.

Database Source: Embase Weekly Updates

Journal Title: PloS one

Article Title: 'Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives

Year: 2024

Issue: 3

Volume: 19

Abstract: BACKGROUND: Newborn bloodspot screening is a well-established population health initiative that detects serious, childhood-onset, treatable conditions to improve health outcomes. With genomic technologies advancing rapidly, many countries are actively discussing the introduction of genomic assays into newborn screening programs. While adding genomic testing to Australia's newborn screening program could improve outcomes for infants and families, it must be considered against potential harms, ethical, legal, equity and social implications, and economic and health system impacts. We must ask not only 'can' we use genomics to screen newborns?' but 'should we'?' and 'how much should health systems invest in genomic newborn screening?'. <br/>METHOD(S): This study will use qualitative methods to explore understanding, priorities, concerns and expectations of genomic newborn screening among parents/carers, health professionals/scientists, and health policy makers across Australia. In-depth, semi-structured interviews will be held with 30-40 parents/carers recruited via hospital and community settings, 15-20 health professionals/scientists, and 10-15 health policy makers. Data will be analysed using inductive content analysis. The Sydney Children's Hospital Network Human Research Ethics Committee approved this study protocol [2023/ETH02371]. The Standards for Reporting Qualitative Research will guide study planning, conduct and reporting. DISCUSSION: Few studies have engaged a diverse range of stakeholders to explore the implications of genomics in newborn screening in a culturally and genetically diverse population, nor in a health system underpinned by universal health care. As the first study within a multi-part research program, findings will be used to generate new knowledge on the risks and benefits and importance of ethical, legal, social and equity implications of genomic newborn screening from the perspective of key stakeholders. As such it will be the foundation on which child and family centered criteria can be developed to inform health technology assessments and drive efficient and effective policy decision-making on the implementation of genomics in newborn screening.<br/>Copyright: © 2024 Kariyawasam et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Preimplantation Genetic Testing for Polygenetic Conditions: A Legal, Ethical, and Scientific Challenge

Sat, 06 Apr 2024 08:28:32 +0000

Author Names: Ginod P.,Dahan M.H.

Database Source: Embase Weekly Updates

Journal Title: Seminars in Reproductive Medicine,Seminars in Reproductive Medicine

Article Title: Preimplantation Genetic Testing for Polygenetic Conditions: A Legal, Ethical, and Scientific Challenge

Year: 2024

Issue:

Volume:

Abstract: The recent commercialization of the Embryo Health Score (EHS), determined through preimplantation genetic testing for polygenic conditions, offers the potential to select embryos with lower disease risk, thus potentially enhancing offspring longevity and health. Lately, Orchid Health company increased testing from less than 20 diseases to more than 900+ conditions for birth defects. However, the "geneticization"of phenotype estimates to a health state erases the environmental part, including the in vitro fertilization potential risks, questioning its scientific usefulness. EHS is utilized in countries with minimal regulatory oversight and will likely expand, while it remains illegal in other countries due to ethical and legal dilemmas it raises about reproductive autonomy, discrimination, impacts on family dynamics, and genetic diversity. The shift toward commercialized polygenic embryo screening (PES) redefines healthcare relationships, turning prospective parents into consumers and altering the physician's role. Moreover, PES could increase social inequalities, stigmatize those not born following PES, and encourage "desirable"phenotypic or behavioral traits selection, leading to ethical drift. Addressing these issues is essential before further implementation and requires a collaborative approach involving political, governmental, and public health, alongside geneticists, ethicists, and fertility specialists, focusing on the societal implications and acceptability of testing for polygenic traits for embryo selection. <br/>Copyright © 2024. Thieme. All rights reserved.

The Ethics of Genetic Testing for Inherited Cancer-Predisposing Genes.

Fri, 01 Mar 2024 05:00:00 +0000

JADPRO: Journal of the Advanced Practitioner in Oncology; 03/01/2024
Once an individual has been identified as a carrier of an inherited cancer-predisposing gene or pathogenic germline variant (PGV), there are measures that have been proven to prevent and diagnose the associated cancers at an earlier, more curable stage. Consequently, patients who are offered and undergo testing are afforded opportunities and health-care information that profoundly affect their lives and the lives of their family members who choose to be tested as well. For years, the debate over the controversial topic of whether all patients should be offered germline testing for cancer-predisposing PGVs centered around questions of the analytical sensitivity of the assays (i.e., the ability of the test to correctly identify those who carry a PGV), legal implications for those identified as PGV carriers, cost to the health-care system, and the uncertain management implications of test results. Currently, the standard of care is to offer testing to individuals where the anticipated benefits of testing outweigh the harms. Here, the ethical question of whether all patients have the right to testing for PGVs is considered.
(AN 176522548); ISSN: 21500878
CINAHL Complete

"Are we not going too far?": Socio-ethical considerations of preimplantation genetic testing using polygenic risk scores according to healthcare professionals.

Thu, 15 Feb 2024 05:00:00 +0000

Social Science & Medicine; 02/15/2024
The recent introduction of polygenic risk scores within preimplantation genetic testing (PGT-P) has been met with many concerns. To get more insights into the perspectives of relevant stakeholders on the socio-ethical aspects of PGT-P, an interview study with 31 healthcare professionals involved in reproductive medicine and genetics in Europe and North-America was performed. Healthcare professionals in our study were concerned that PGT-P was going too far in terms of selection, with regards to both medical conditions and non-medical traits. Healthcare professionals were worried about the ethical 'slippery slope' of PGT-P, the increasing medicalization of reproductive health, the commercial context of PGT-P, and potential stigmatization and discrimination. There were also concerns that the availability and the 'technological imperative' of PGT-P could lead to pressure and a sense of responsibility for parents to use PGT-P. Additionally, it could cause new anxieties about the child's health before the child has even been born. Since PGT-P provides polygenic risk scores before birth, the autonomy of the child has to be considered. These socio-ethical concerns heighten existing debates regarding reproductive genetic technologies and show that the specifics of PGT-P make this screening option especially ethically controversial. • Introduction of polygenic risk scores in preimplantation genetic testing. • Healthcare professionals concerned about socio-ethical implications. • Associated with 'slippery slope', going too far, discrimination and stigmatization. • Increased sense of medicalization and commercialization of reproduction and health. • Worries about effects on prospective parents and on the future child's autonomy.
(AN 175301018); ISSN: 02779536
CINAHL Complete

Ethical considerations for biobanking and use of genomics data in Africa: a narrative review.

Tue, 05 Dec 2023 05:00:00 +0000

BMC Medical Ethics; 12/05/2023
(AN 174011990); ISSN: 14726939
CINAHL Complete

Ethical Guidance for Autism Genomics Research.

Fri, 01 Dec 2023 05:00:00 +0000

Medical Ethics Advisor; 12/01/2023
The article focuses on the inclusion of community members in ethics committees, a practice that has been suggested by leaders in the field and gained renewed attention during the COVID-19 pandemic. It mentions Trevor M. Bibler, the director of clinical ethics consultation services at Houston Methodist Hospital, highlights the importance of accurate community representation and outlines the committee's efforts to recruit diverse community members.
(AN 173886915); ISSN: 08860653
CINAHL Complete

Knowledge Gap on Direct-to-Consumer Genomic Testing Is an Ethical Worry.

Fri, 01 Dec 2023 05:00:00 +0000

Medical Ethics Advisor; 12/01/2023
The article focuses on the ethical implications of the increasing popularity of direct-to-consumer (DTC) genomic testing, highlighting the need for greater awareness among the general public and healthcare providers about the clinical and ethical consequences. It authors emphasize the challenges arising from patients' reliance on DTC testing, leading to confusion and ethical concerns.
(AN 173886918); ISSN: 08860653
CINAHL Complete

Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical Issues.

Wed, 01 Nov 2023 04:00:00 +0000

Journal of Pediatrics; 11/01/2023
(AN 173490478); ISSN: 00223476
CINAHL Complete

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

Sun, 01 Oct 2023 04:00:00 +0000

Journal of Pediatrics; 10/01/2023
(AN 172293217); ISSN: 00223476
CINAHL Complete

Ethical Approaches to Informed Consent for Genetic Testing.

Fri, 01 Sep 2023 04:00:00 +0000

Medical Ethics Advisor; 09/01/2023
The article focuses on establishing an ethical framework for informed consent in genetic testing, aiming to identify essential concepts that should be included in the informed consent process. It mentions an expert consensus process identified core concepts such as voluntary testing, understanding the purpose and potential results of the test, potential impact on prognosis and management, familial implications, limitations of the test, and potential for genetic discrimination.
(AN 170897407); ISSN: 08860653
CINAHL Complete

Ethics and the Role of Nursing in Genetics.

Fri, 01 Sep 2023 04:00:00 +0000

South Carolina Nurse; 09/01/2023
(AN 172334646); ISSN: 10467394
CINAHL Complete

Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.

Fri, 01 Sep 2023 04:00:00 +0000

International Journal of Neonatal Screening (IJNS); 09/01/2023
(AN 172395350); ISSN: 2409515X
CINAHL Complete

A Scoping Review: Do instruments measuring genomic competence in nursing incorporate ethics?

Tue, 01 Aug 2023 04:00:00 +0000

Nursing Open; 08/01/2023
(AN 164877873); ISSN: 20541058
CINAHL Complete

Direct-to-Consumer Genomic Testing Through an Ethics Lens: Oncology Nursing Considerations.

Tue, 01 Aug 2023 04:00:00 +0000

Clinical Journal of Oncology Nursing; 08/01/2023
BACKGROUND: The use of direct-to-consumer genomic testing (DTCGT) is increasing, but this testing may not be comprehensive and may lack clinical validity and utility. The ethical constructs of beneficence, nonmaleficence, justice, and autonomy provide a framework for coordinating the care of patients and their families. OBJECTIVES: This article provides an overview of the DTCGT process and reviews the ethical implications that affect clinical care. METHODS: A review of the literature was conducted using the following key words: genetics/ genomics and direct-to-consumer testing. Common themes were identified, including test types, regulatory standards, marketing practices, ethics, privacy, and nursing implications. FINDINGS: An increased awareness of the clinical and ethical consequences of DTCGT is needed among healthcare providers and the general population. Oncology nurses can assist patients in navigating the field of genomics through consistent and comprehensive risk assessment, patient education about the risks and benefits of DTCGT, and referral to genomics professionals when appropriate.
(AN 166919674); ISSN: 10921095
CINAHL Complete

The Technological Entrainment of Moral Issues: The Case of Genomic Data Markets.

Tue, 01 Aug 2023 04:00:00 +0000

Academy of Management Journal; 08/01/2023
This research considers the role of technology in shaping the moral foundations of emerging digital markets. Through an inductive process study, we examine the development of the market for genomic (DNA) data—an emergent digital market plagued by moral conflicts over privacy and ownership. Drawing on interview, archival, and observational data, we analyze how rules for exchanging genomic data emerged, and how entrepreneurial technology-development moves influenced those rules. Our findings reveal a four-step process, which we call the technological entrainment of moral issues, involving the progressive synchronization of framings, technical policies, technologies (software), exchange platforms, and market participant behaviors. This process baked particular moral stances on privacy and ownership into technological designs, which then dictated the rules market participants were required to follow to engage in exchange. We conclude that when markets are digital, technology processes central to exchange end up controlling many moral aspects of exchange. Our study contributes to theories of morally contentious markets and cultural or institutional entrepreneurship by illuminating how those theories can incorporate material (not only symbolic) aspects of technology processes and better explain the emerging moral order within the rapidly expanding realm of digital markets.
(AN 169940898); ISSN: 00014273
Health Business Elite

Navigating the Ethical Dilemmas Associated With Genomic Sequencing of the Newborn.

Tue, 01 Aug 2023 04:00:00 +0000

Clinical Therapeutics; 08/01/2023
(AN 171313753); ISSN: 01492918
CINAHL Complete

Ethical Considerations in Clinical Trials for Rare Genetic Diseases: The Case of Huntington's Disease.

Sat, 01 Jul 2023 04:00:00 +0000

American Journal of Bioethics; 07/01/2023
The article focuses on the intersectionality of health disparities in research and clinical care for rare diseases, with a specific emphasis on Huntington's Disease (HD). Topics include the underdiagnosis and limited access to neurologic care for racial and ethnic minority groups with Huntington's Disease, the historical injustice in the discovery of the genetic mutation associated with HD in Venezuela, and equitable access in drug development for rare diseases like HD.
(AN 164479107); ISSN: 15265161
CINAHL Complete

Ethical, Legal, and Social Implications of Genomics Research: Implications for Building a More Racially Diverse Bioethics Workforce.

Sat, 01 Jul 2023 04:00:00 +0000

American Journal of Bioethics; 07/01/2023
The article focuses on the need for a deeper analysis of racial justice in the field of bioethics, particularly in the context of genomics research and its implications for underserved communities, such as those in the Deep South.
(AN 164479115); ISSN: 15265161
CINAHL Complete

Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants.

Thu, 01 Jun 2023 04:00:00 +0000

Children; 06/01/2023
Rapid genomic testing (rGT) enables genomic information to be available in a matter of hours, allowing it to be used in time-critical settings, such as intensive care units. Although rGT has been shown to improve diagnostic rates in a cost-effective manner, it raises ethical questions around a range of different areas, including obtaining consent and clinical decision-making. While some research has examined the perspectives of parents and genetics health professionals, the attitudes of intensive care clinicians remain under-explored. To address this gap, we administered an online survey to English-speaking neonatal/paediatric intensivists in Europe, Australasia and North America. We posed two ethical scenarios: one relating to obtaining consent from the parents and the second assessing decision-making regarding the provision of life-sustaining treatments. Descriptive statistics were used to analyse the data. We received 40 responses from 12 countries. About 50–75% of intensivists felt that explicit parental consent was necessary for rGT. About 68–95% felt that a diagnosis from rGT should affect the provision of life-sustaining care. Results were mediated by intensivists' level of experience. Our findings show divergent attitudes toward ethical issues generated by rGT among intensivists and suggest the need for guidance regarding ethical decision-making for rGT.
(AN 164614210); ISSN: 22279067
CINAHL Complete

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.

Thu, 01 Jun 2023 04:00:00 +0000

International Journal of Neonatal Screening (IJNS); 06/01/2023
(AN 164647875); ISSN: 2409515X
CINAHL Complete

An Ethical Argument for Health Insurance Coverage of Paternal Prenatal Genetic Testing.

Mon, 01 May 2023 04:00:00 +0000

Obstetrics & Gynecology; 05/01/2023
(AN 163213538); ISSN: 00297844
CINAHL Complete

Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges.

Mon, 01 May 2023 04:00:00 +0000

Children; 05/01/2023
Ultra-rapid genomic sequencing (urGS) is increasingly used in neonatal and pediatric intensive care settings (NICU/PICU), demonstrating high diagnostic and clinical utility. This study aimed to explore the perspectives of healthcare professionals (HPs) and the challenges raised by urGS, particularly when making treatment decisions. Four focus groups and two interviews were conducted with HPs who had experience using urGS in NICU/PICU. Inductive content analysis was used to analyze the data. Nineteen HPs participated overall (eight clinical geneticists, nine genetic counselors, and two intensivists). One challenging area of practice identified by HPs was setting realistic expectations for outcomes of urGS among HPs and families. HPs reported modifying pre-test counseling to include life-limiting diagnoses as a possible test outcome and felt concerned about the timing of the test and its impact on parent–child bonding. UrGS results of uncertain prognostic significance posed considerable challenges. Moral distress arose when families and HPs were misaligned regarding treatment goals following the urGS diagnosis. We identified areas of practice that remain ethically challenging for HPs using urGS in the NICU/PICU. HPs experiences of using urGS in the NICU/PICU could inform specialized training in withdrawal of treatment decision making for the genomics workforce.
(AN 163938796); ISSN: 22279067
CINAHL Complete

Wrestling with Social and Behavioral Genomics: Risks, Potential Benefits, and Ethical Responsibility

Thu, 20 Apr 2023 00:00:00 +0000

Hastings Cent Rep. 2023 Apr 20. doi: 10.1002/hast.1477. Online ahead of print.

ABSTRACT

In this consensus report by a diverse group of academics who conduct and/or are concerned about social and behavioral genomics (SBG) research, the authors recount the often ugly history of scientific attempts to understand the genetic contributions to human behaviors and social outcomes. They then describe what the current science-including genomewide association studies and polygenic indexes-can and cannot tell us, as well as its risks and potential benefits. They conclude with a discussion of responsible behavior in the context of SBG research. SBG research that compares individuals within a group according to a "sensitive" phenotype requires extra attention to responsible conduct and to responsible communication about the research and its findings. SBG research (1) on sensitive phenotypes that (2) compares two or more groups defined by (a) race, (b) ethnicity, or (c) genetic ancestry (where genetic ancestry could easily be misunderstood as race or ethnicity) requires a compelling justification to be conducted, funded, or published. All authors agree that this justification at least requires a convincing argument that a study's design could yield scientifically valid results; some authors would additionally require the study to have a socially favorable risk-benefit profile.

PMID:37078667 | DOI:10.1002/hast.1477

Yes, We Can, But Should We? Ethical Considerations in Reporting Germline Findings From Paired Tumor-Normal Genomic Testing in Patients With Advanced Cancer.

Mon, 10 Apr 2023 04:00:00 +0000

Journal of Clinical Oncology; 04/10/2023
(AN 162914378); ISSN: 0732183X
CINAHL Complete

Ethical Concerns of Direct-to-Consumer Genetic Testing

Thu, 06 Apr 2023 00:00:00 +0000

J Am Acad Dermatol. 2023 Apr 4:S0190-9622(23)00534-0. doi: 10.1016/j.jaad.2023.03.044. Online ahead of print.

NO ABSTRACT

PMID:37024050 | DOI:10.1016/j.jaad.2023.03.044

Australian healthcare professionals' perspectives on the ethical and practical issues associated with genomic newborn screening.

Sat, 01 Apr 2023 04:00:00 +0000

Journal of Genetic Counseling; 04/01/2023
Newborn bloodspot screening (NBS) is a successful public health initiative that seeks to identify serious, treatable medical conditions. The increasing use of genomic sequencing (GS) in a wide range of medical settings has reignited the discussion on whether GS can and should be integrated into NBS. Yet, the perspectives of healthcare professionals (HCPs) in Australia on the ethical and practical issues associated with the implementation of genomic newborn screening (GNBS) are underexplored. To address this, we conducted semi‐structured interviews with 16 Australian HCPs with clinical or policy experience in NBS and/or GS to explore their perspectives on the ethical, social, and practical issues raised by integrating GS into NBS. Interviews were analyzed using inductive content analysis. When asked whether GS should be incorporated into NBS, HCPs did not feel it was currently appropriate but there was a strong consensus it may be implemented within the next decade. However, HCPs had differing perspectives on what conditions should be included and how to best handle the volume of data generated from GNBS. Our findings have important implications for determining at what point and how genomics can be integrated into NBS. The differing views expressed amongst HCPs suggest that further research is needed to explore the reasons behind this. Importantly, our participants highlighted a potential role for genetic counselors in the implementation of GNBS on a larger scale by developing educational resources to facilitate obtaining informed consent and return of results.
(AN 162897317); ISSN: 10597700
CINAHL Complete

Capacity-Building for Stroke Genomic Research Data Collection: The African Neurobiobank Ethical, Legal, and Social Implications Project Experience.

Sat, 01 Apr 2023 04:00:00 +0000

Biopreservation & Biobanking; 04/01/2023
(AN 163189427); ISSN: 19475535
CINAHL Complete

Ethics in pre-ART genetics: a missed X-linked Menkes disease case

Thu, 30 Mar 2023 00:00:00 +0000

J Assist Reprod Genet. 2023 Mar 30. doi: 10.1007/s10815-023-02778-z. Online ahead of print.

ABSTRACT

Assisted reproductive technology (ART) has experienced dramatic progress over the last 30 years, and gamete donation is routine in fertility clinics. Major advances in genetic diagnostics are part of this development due to the ability to analyze multiple genes or whole genomes fast and to an affordable prize. This requires knowledge and capability to evaluate genetic variants correctly in a clinical setting. Here we report a Menkes disease case, born after ART, where genetic screening and variant scoring failed to identify an egg donor as carrier of this fatal X-linked disorder. The gene variant is a deletion of a single base pair leading to a frameshift and premature termination of the protein, predicted to result in no or severely diminished function. The variant would be classified as likely pathogenic (class 4) and should be readily detectable by molecular genetic screening techniques. We wish to highlight this case to prevent future similar cases. IVI Igenomix has developed and embarked on an ambitious screening program to detect and prevent a large number of inherited severe childhood disorders in ART pregnancies. The company has recently achieved ISO 15189 certification with competence to evaluate and deliver timely, accurate, and reliable results. Failure to identify a pathogenic variant in the ATP7A gene leading to birth of two boys with Menkes disease invokes the required procedures to screen and detect disease-causing gene variants. This calls for ethical and legal considerations in ART diagnostics to prevent fatal errors like the present.

PMID:36995557 | DOI:10.1007/s10815-023-02778-z

"We've Opened Pandora's Box, Haven't We?" Clinical Geneticists' Views on Ethical Aspects of Genomic Testing in Neonatal Intensive Care

Tue, 07 Mar 2023 00:00:00 +0000

Balkan J Med Genet. 2023 Mar 1;25(1):5-12. doi: 10.2478/bjmg-2022-0013. eCollection 2022 Jun.

ABSTRACT

The increasing use of genomic testing in neonatal intensive care units (NICU) gives rise to ethical issues. Yet little is known regarding what health professionals implementing the testing think about its ethical aspects. We therefore explored the views of Australian clinical geneticists towards ethical issues in the use of genomic testing in the Neonatal Intensive care Unit (NICU). Semi-structured interviews with 11 clinical geneticists were conducted, transcribed and analysed thematically. Four themes were identified: 1) Consent: the craft is in the conversation, which encapsulated the challenges in the consent process, and with pre-test counseling; 2) Whose autonomy and who decides? This illustrates the balancing of clinical utility and potentially harms the test, and how stakeholder interests are balanced; 3) The winds of change and ethical disruption, recognizing that while professional expertise is vital to clinical decision-making and oversight of mainstreaming, participants also expressed concern over the size of the genetics workforce and 4). Finding Solutions - the resources and mechanisms to prevent and resolve ethical dilemmas when they arise, such as quality genetic counseling, working as a team and drawing on external ethics and legal expertise. The findings highlight the ethical complexities associated with genomic testing in the NICU. They suggest the need for a workforce that has the necessary support and skills to navigate the ethical terrain, drawing on relevant ethical concepts and guidelines to balance the interests of neonates, their careers and health professionals.

PMID:36880043 | PMC:PMC9985353 | DOI:10.2478/bjmg-2022-0013

Genomics is here: what can we do with it, and what ethical issues has it brought along for the ride?

Sun, 05 Mar 2023 00:00:00 +0000

New Bioeth. 2023 Mar;29(1):1-9. doi: 10.1080/20502877.2023.2180839.

NO ABSTRACT

PMID:36871201 | DOI:10.1080/20502877.2023.2180839

Ethical principles for the usage and sharing of genomic data from researc

Fri, 03 Mar 2023 00:00:00 +0000

Cas Lek Cesk. 2023 Winter;161(7-8):271-275.

ABSTRACT

The current significant development of human genome/exome sequencing in biomedical research is one of the important paths leading to personalized medicine. However, sequencing of human genetic information generates potentially sensitive and exploitable data, which leads to ethical, legal, and security issues. For this reason, it is necessary to follow several measures when working with these data, applying to their entire life cycle - i.e., acquisition, storage, processing, usage, sharing, archiving, and reuse. In addition, importance of good practice during the whole data life cycle is emphasized by current European trends towards open science and digital transformation. Therefore, the following recommendations have been developed, establishing principles for work with the whole human genome sequences or parts of it in research context. The recommendations are based on two documents published by the Global Alliance for Genomics and Health (GA4GH) and on foreign literature, thus summarizing recent relevant guidance on most aspects of working with human genomic data.

PMID:36868836

Wrestling with Social and Behavioral Genomics: Risks, Potential Benefits, and Ethical Responsibility.

Thu, 02 Mar 2023 05:00:00 +0000

Hastings Center Report; 03/02/2023
In this consensus report by a diverse group of academics who conduct and/or are concerned about social and behavioral genomics (SBG) research, the authors recount the often‐ugly history of scientific attempts to understand the genetic contributions to human behaviors and social outcomes. They then describe what the current science—including genomewide association studies and polygenic indexes—can and cannot tell us, as well as its risks and potential benefits. They conclude with a discussion of responsible behavior in the context of SBG research. SBG research that compares individuals within a group according to a "sensitive" phenotype requires extra attention to responsible conduct and to responsible communication about the research and its findings. SBG research (1) on sensitive phenotypes that (2) compares two or more groups defined by (a) race, (b) ethnicity, or (c) genetic ancestry (where genetic ancestry could easily be misunderstood as race or ethnicity) requires a compelling justification to be conducted, funded, or published. All authors agree that this justification at least requires a convincing argument that a study's design could yield scientifically valid results; some authors would additionally require the study to have a socially favorable risk‐benefit profile.
(AN 163236375); ISSN: 00930334
Health Business Elite

Ethics, Legality, and Safety for Geneticists

Tue, 28 Feb 2023 00:00:00 +0000

Methods Mol Biol. 2023;2633:235-245. doi: 10.1007/978-1-0716-3004-4_17.

ABSTRACT

Never before have we had the methods to edit or manipulate genes and genomes in the way we can today. This volume has described technologies that, a generation ago, were unthinkable. But such power raises broader issues on how we wield it. These concerns are relevant at a number of levels, from basic safety, through the importance of scientific reproducibility and transparency, to Ethical, Philosophical, or even Political considerations. But why should this matter to a laboratory scientist - surely results are the main aim of experiments? However, such a view misses the important point that alongside our research generating new information, experience gained conducting research can also be used for influence far beyond the lab bench. Indeed, how research is conducted can be as important as the results themselves because our actions also reflect and inform the values that society and us as individuals view as important. Rather than focusing on the details of policy or legislation, this chapter therefore seeks to reflect on how Ethics, Legality, and Safety impact the molecular biologist, and why researchers need to view these not as bureaucracy, but rather as a critical part of their wider scientific identity and task.

PMID:36853468 | DOI:10.1007/978-1-0716-3004-4_17

Confronting ethical and social issues related to the genetics of musicality

Tue, 28 Feb 2023 00:00:00 +0000

Ann N Y Acad Sci. 2023 Apr;1522(1):5-14. doi: 10.1111/nyas.14972. Epub 2023 Feb 27.

ABSTRACT

New interdisciplinary research into genetic influences on musicality raises a number of ethical and social issues for future avenues of research and public engagement. The historical intersection of music cognition and eugenics heightens the need to vigilantly weigh the potential risks and benefits of these studies and the use of their outcomes. Here, we bring together diverse disciplinary expertise (complex trait genetics, music cognition, musicology, bioethics, developmental psychology, and neuroscience) to interpret and guide the ethical use of findings from recent and future studies. We discuss a framework for incorporating principles of ethically and socially responsible conduct of musicality genetics research into each stage of the research lifecycle: study design, study implementation, potential applications, and communication.

PMID:36851882 | DOI:10.1111/nyas.14972

How genetics unmasked the Golden State Killer - and the uncomfortable ethical aftermath

Tue, 07 Feb 2023 00:00:00 +0000

Nature. 2023 Feb;614(7947):217-218. doi: 10.1038/d41586-023-00342-4.

NO ABSTRACT

PMID:36747113 | DOI:10.1038/d41586-023-00342-4

An Ethical Argument for Health Insurance Coverage of Paternal Prenatal Genetic Testing

Thu, 26 Jan 2023 00:00:00 +0000

Obstet Gynecol. 2023 Jan 1;141(1):11-14. doi: 10.1097/AOG.0000000000005018. Epub 2022 Nov 30.

ABSTRACT

Despite evidence-based recommendations from the American College of Obstetricians and Gynecologists and the American College of Medical Genetics to offer prenatal genetic carrier screening for reproductive partners, partner carrier screening or genetic testing is inconsistently covered by pregnant patients' health insurance plans. Health policies that exclude reproductive partners from insurance coverage for prenatal carrier screening or genetic testing contradict multiple ethical principles and can even contribute to adverse maternal-child health outcomes. Incomplete or missing information regarding partner carrier status can lead to costly, invasive, and potentially risky interventions for the pregnant patient that can be avoided by a simple and less expensive blood test in the reproductive partner. Lack of information regarding carrier status also harms the neonate by obviating an opportunity for early detection and treatment of potential medical complications. Insurance policies that exclude coverage for paternal genetic testing perpetuate the disproportionate burdens of pregnancy care and risk shouldered by pregnant people. To rectify these ethical dilemmas, partner carrier screening and genetic testing should be considered and covered as routine components of obstetric health care that are covered by health insurance.

PMID:36701605 | DOI:10.1097/AOG.0000000000005018

Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores

Sun, 18 Dec 2022 00:00:00 +0000

J Community Genet. 2022 Dec 19. doi: 10.1007/s12687-022-00625-9. Online ahead of print.

ABSTRACT

Advances in genomics have enabled the development of polygenic scores (PGS), sometimes called polygenic risk scores, in the context of multifactorial diseases and disorders such as cancer, cardiovascular disease, and schizophrenia. PGS estimate an individual's genetic predisposition, as compared to other members of a population, for conditions which are influenced by both genetic and environmental factors. There is significant interest in using genetic risk prediction afforded through PGS in public health, clinical care, and research settings, yet many acknowledge the need to thoughtfully consider and address ethical, legal, and social implications (ELSI). To contribute to this effort, this paper reports on a narrative review of the literature, with the aim of identifying and categorizing ELSI relating to genetic risk prediction in the context of multifactorial disease, which have been raised by scholars in the field. Ninety-two articles, spanning from 1977 to 2021, met the inclusion criteria for this study. Identified ELSI included potential benefits, challenges and risks that focused on concerns about interpretation and use, and ethical obligations to maximize benefits, minimize risks, promote justice, and support autonomy. This research will support geneticists, clinicians, genetic counselors, patients, patient advocates, and policymakers in recognizing and addressing ethical concerns associated with PGS; it will also guide future empirical and normative research.

PMID:36529843 | DOI:10.1007/s12687-022-00625-9

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Yes, We Can, But Should We? Ethical Considerations in Reporting Germline Findings From Paired Tumor-Normal Genomic Testing in Patients With Advanced Cancer

Mon, 05 Dec 2022 00:00:00 +0000

J Clin Oncol. 2023 Apr 10;41(11):1982-1985. doi: 10.1200/JCO.22.00796. Epub 2022 Dec 5.

NO ABSTRACT

PMID:36469841 | DOI:10.1200/JCO.22.00796

Benefit sharing in genomic and biobanking research in Uganda: Perceptions of researchers and research ethics committee members

Mon, 05 Dec 2022 00:00:00 +0000

Front Genet. 2022 Nov 17;13:1037401. doi: 10.3389/fgene.2022.1037401. eCollection 2022.

ABSTRACT

Background: Genomic and biobanking research has increased in Africa over the past few years. This has raised pertinent ethical, legal, and societal concerns for stakeholders such as sample or data ownership, commercialization, and benefit sharing. There is limited awareness of the concept of benefit sharing by stakeholders in sub-Saharan Africa. Objective: This study aimed to explore the perceptions of researchers and research ethics committee members on benefit sharing in international collaborative genomic and biobanking research. Methods: Qualitative in-depth interviews were conducted with 15 researchers and 19 research ethics committee members. A thematic approach was used to interpret the results. Results: Six themes emerged from the data and these included perceptions on the benefits of genomic and biobanking research; discussion of benefit sharing with participants during the informed consent process; legal implications of benefit sharing and the role of material transfer agreements; equity and fairness in sharing the benefits of genomic research; perceived barriers to fair benefit sharing; and recommendations for fostering fair and equitable benefit sharing in genomic and biobanking research. Most respondents clearly understood the various forms of benefits of genomic and biobanking research and opined that such benefits should be fairly and equitably shared with low and middle-income country researchers and their institutions, and research communities. The perceived barriers to the fair benefit sharing unfavorable include power disparities, weak research regulatory frameworks, and lack of scientific integrity. Conclusion: Overall, respondents believed that the distribution of the advantages of genomic and biobanking research in North-South collaborative research was not equitable nor fair, and that the playing field was not leveled. Therefore, we advocate the following for fair and equitable benefit sharing: Building the capacities and empowering research scientists in developing nations; strengthening regulatory frameworks and extending the purview of the research ethics committee in the development and implementation of material transfer agreements; and meaningfully involving local research communities in benefit sharing negotiations.

PMID:36468002 | PMC:PMC9714451 | DOI:10.3389/fgene.2022.1037401

Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome.

Thu, 01 Dec 2022 05:00:00 +0000

Journal of Genetic Counseling; 12/01/2022
Pathogenic variants in HPRT1 lead to deficiency in hypoxanthine‐guanine phosphoribosyltransferase and are responsible for a spectrum of disorders. The severe phenotype is termed Lesch–Nyhan syndrome (LNS) and is inherited in an X‐linked recessive manner. Most individuals with LNS have profound intellectual and physical disabilities throughout life including self‐mutilating behaviors. Here, we present the case of a male infant who was diagnosed with LNS at 3 weeks of age via rapid exome sequencing (ES), which revealed a hemizygous maternally inherited deletion of at least 1.3 Mb of Xq26.3, including exons 2 to 9 of HPRT1. We discuss the critical time points leading to this diagnosis while highlighting his parents' values that guided the decision‐making. Genetic testing provided an early diagnosis for this infant that led to important considerations regarding goals of care in addition to raising new ethical concerns. This highlights the important role that early and rapid diagnostic genetic testing can play in helping families make difficult decisions. Additionally, this case highlights the complexity of discussing rare genetic diagnoses with families and facilitating critical discussions to empower the family toward making an informed decision.
(AN 160570635); ISSN: 10597700
CINAHL Complete

Genetic testing for psychiatric illness in children: ethical issues.

Thu, 01 Dec 2022 05:00:00 +0000

Current Opinion in Pediatrics; 12/01/2022
Purpose Of Review: Genetic and genomic technologies are showing great potential in the field of psychiatry. Genetic testing for psychiatric conditions poses a range of ethical challenges, many of which are likely to be exacerbated for paediatric populations. As a large proportion of psychiatric conditions present in late adolescence and early adulthood, testing in childhood may be considered in some circumstances. Synthesis of issues specific to psychiatric genetic testing in paediatric populations has been limited.Recent Findings: Balancing the autonomy of the child and parents requires consideration and judging capacity may be complicated by the presence of psychiatric illness in the child and their family. Health professionals' limited understanding of psychiatric genetics may inhibit delivery of effective psychiatric care. Risk of stigma and discrimination associated with genetic diagnosis and psychiatric illness is compounded for children, who inherently cannot make their own decisions and for whom the impact of a genetic diagnosis is likely to be longest lasting.Summary: Although the current evidence base suggests genetic testing may not be appropriate for clinical use in psychiatric populations right now, when it is, appropriate pre-test counselling and informed decision making will be essential to support and protect children's developing and future autonomy.
(AN 159976579); ISSN: 10408703
CINAHL Complete

The Lesser of Two Evils: Application of Maslahah-Mafsadah Criteria in Islamic Ethical-Legal Assessment of Genetically Modified Mosquitoes in Malaysia.

Thu, 01 Dec 2022 05:00:00 +0000

Journal of Bioethical Inquiry; 12/01/2022
The release of over 6,000 genetically modified mosquitoes (GMM) into uninhabited Malaysian forests in 2010 was a frantic step on the part of the Malaysian government to combat the spread of dengue fever. The field trial was designed to control and reduce the dengue vector by producing offspring that die in the early developmental stage, thus decreasing the local Aedes aegypti population below the dengue transmission threshold. However, the GMM trials were discontinued in Malaysia despite being technologically feasible. The lack of systematic studies in terms of cost-benefit analysis, questionable research efficacy and safety-related concerns might have contributed to the termination of the field trial. Hence, this research aims to evaluate the feasibility of GMM release in Malaysia by using a holistic approach based on an Islamic ethical-legal assessment under the maslahah-mafsadah (benefit-risk) concept. Three main strategies based on the maslahah-mafsadah concept approach have been applied: 1) an evidence-based approach, 2) an impact-based approach and, 3) a priority approach. The analysis concluded that GMM could be categorised as zanniyyah (probable). GMM is a promising alternative for dengue control, but many issues must be addressed before its widespread adoption.
(AN 161768194); ISSN: 11767529
CINAHL Complete

As Gods: A Moral History of the Genetic Age, by Matthew Cobb. New York: Basic Books, 2022

Thu, 01 Dec 2022 00:00:00 +0000

J Med Humanit. 2022 Dec 1:1-3. doi: 10.1007/s10912-022-09772-z. Online ahead of print.

NO ABSTRACT

PMID:36454352 | PMC:PMC9713152 | DOI:10.1007/s10912-022-09772-z

WHO principles speed up ethical sharing of pathogen genomic data

Tue, 15 Nov 2022 00:00:00 +0000

Nature. 2022 Nov;611(7936):449. doi: 10.1038/d41586-022-03679-4.

NO ABSTRACT

PMID:36376709 | DOI:10.1038/d41586-022-03679-4

Genetic engineering's contested ethicsAs Gods Matthew Cobb Basic Books, 2022. 464 pp

Thu, 10 Nov 2022 00:00:00 +0000

Science. 2022 Nov 11;378(6620):607. doi: 10.1126/science.ade5848. Epub 2022 Nov 10.

ABSTRACT

Good intentions at the intersection of principles, policy, and profit make for a bumpy road.

PMID:36356123 | DOI:10.1126/science.ade5848

The Lesser of Two Evils: Application of Maslahah-Mafsadah Criteria in Islamic Ethical-Legal Assessment of Genetically Modified Mosquitoes in Malaysia

Wed, 09 Nov 2022 00:00:00 +0000

J Bioeth Inq. 2022 Dec;19(4):587-598. doi: 10.1007/s11673-022-10216-5. Epub 2022 Nov 9.

ABSTRACT

The release of over 6,000 genetically modified mosquitoes (GMM) into uninhabited Malaysian forests in 2010 was a frantic step on the part of the Malaysian government to combat the spread of dengue fever. The field trial was designed to control and reduce the dengue vector by producing offspring that die in the early developmental stage, thus decreasing the local Aedes aegypti population below the dengue transmission threshold. However, the GMM trials were discontinued in Malaysia despite being technologically feasible. The lack of systematic studies in terms of cost-benefit analysis, questionable research efficacy and safety-related concerns might have contributed to the termination of the field trial. Hence, this research aims to evaluate the feasibility of GMM release in Malaysia by using a holistic approach based on an Islamic ethical-legal assessment under the maslahah-mafsadah (benefit-risk) concept. Three main strategies based on the maslahah-mafsadah concept approach have been applied: 1) an evidence-based approach, 2) an impact-based approach and, 3) a priority approach. The analysis concluded that GMM could be categorised as zanniyyah (probable). GMM is a promising alternative for dengue control, but many issues must be addressed before its widespread adoption.

PMID:36350531 | DOI:10.1007/s11673-022-10216-5

Editorial: Ethical and regulatory challenges in genetic and genomic research involving stored biological specimens

Mon, 07 Nov 2022 00:00:00 +0000

Front Genet. 2022 Oct 21;13:1062188. doi: 10.3389/fgene.2022.1062188. eCollection 2022.

NO ABSTRACT

PMID:36338956 | PMC:PMC9634577 | DOI:10.3389/fgene.2022.1062188

Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening

Sun, 06 Nov 2022 00:00:00 +0000

Eur J Hum Genet. 2023 Jan;31(1):5-6. doi: 10.1038/s41431-022-01218-3. Epub 2022 Nov 7.

NO ABSTRACT

PMID:36336712 | PMC:PMC9822903 | DOI:10.1038/s41431-022-01218-3