Genetic counseling Ethics

La coyuntura actual nos ha demostrado una vez más la necesidad
de construir una bioética global que, junto a otras herramientas como son
los derechos humanos, contribuya a la protección integral de la persona en
todos sus niveles. El objetivo del presente artículo consiste en realizar una
primera propuesta de sustento teórico y de principios de una bioética global
personalista a partir de la matriz filosófica del personalismo comunitarista.

I went back to my hospital room to rest. I tried to read. . . but I couldn't get into reading. There was a phone by my bed 90 I called friends, because I didn't want to think. I could hear other women phoning too. It struck me that nobody was talking about their men. I didn't see any men there all day-and there seemed to be a whole floor of abortions-except for one who tried to force his way in to be with his girlfriend. They wouldn't let him in. I found that offensive (Howard, 1974, p. 118). *Dates of research: September 1974 through the present time.

The patient-physician relationship is one of the most prevalent and topical issues in bioethics. Using various ethical theories and concepts, bioethicists and philosophers in general have offered similar and contrasting arguments on how a physician ought to treat and relate with his patient. The aim of this paper is to centre on William David Ross's notion of "Prima Facie Duties" and its implications for human actions, especially, in the discourse on patient-physician relationship. This paper attempts to resolve the problem of the patient-physician relationship in relation to truth-telling in medical professions using Ross's prima facie duties. Hence, this paper looks beyond the deficiencies of ideal utilitarianism and the stringency of Kant absolutism.

Chronic Diseases were in the news last year at this time prompting me to author a piece found in these pages [1]. I find that chronic diseases are once again in the news, but the media aren't covering the body of knowledge built up over many years by public health and medical professionals that show us where there exist multiple opportunities to make a difference in the key arena of prevention. We continue to live in a time when our knowledge and our actions don't always match up. In this case, the knowledge of the value of preventing disease, disability, complications and sequalae far surpasses our investment in public education, provider incentives and especially public health infrastructure. Key investments focused on the whole population, using the existing infrastructure of State Health Agencies and partners and their links to local services and clinical healthcare could support putting that knowledge into practice and make a difference soon in many lives.

The chief purposes of the present paper are twofold. One is to maintain that underlying the breakdown of the bioecological system conducive to the increasing environmental crises threatening the sustainable existence of both mankind and nature, has been a breakdown of the psycho-ecological (or spiritual ecological) system that was featured by the prevalence of scientism and waning of humanity. The other is to suggest that the restoration of the traditions of Natural Theology in China based on Shangshu and Yijing and Natural Theology in the West taught by Aristotle, Aquinas, and A.N. Whitehead, serve for the philosophical foundation for the coming of ecological civilization.

Medical school trainings are provided to enable medical students to benefit their patients in their professional lives. When looking at occupational branch preferences, it is seen that the physicians are in a position to protect themselves by choosing less risky areas in Turkey. The situation will be clear when examining the preferences of first-time entrants by the TUS (Medical Specialty Exam) from 2015 for problem determination in Turkey. Empty staff have been in branches such as Internal Medicine, Pediatrics,

Introduction: Alzheimer's disease (AD) is a complex neurodegenerative disorder with significant genetic and environmental components. Accurate diagnosis, genetic counseling, and risk assessment are essential for managing the disease and informing preventive and therapeutic strategies. Materials and Methods: The study conducted included a comprehensive review of current diagnostic criteria for AD, including the NINCDS-ADRDA, DSM-V-TR, and Romanian guidelines. The study examined methodologies for genetic counseling and risk assessment, focusing on both early-onset (EOAD) and late-onset (LOAD) forms of AD. The analysis integrated data from clinical evaluations, neuroimaging, genetic testing, and empirical risk tables to assess recurrence risks and provide guidance for genetic counseling. Results and Discussion: Diagnostic criteria for AD require the presence of cognitive deficits, progressive neurodegenerative processes, and exclusion of other conditions. Genetic counseling involves assessing family history, calculating recurrence risks based on empirical data table, and considering both mendelian and non-mendelian inheritance patterns. Genetic risk factors, such as mutations in PSEN2, APP, PSEN1, and APOE ε4, significantly influence the likelihood of developing AD. The recurrence risk is categorized into low, moderate, high, and very high levels, depending on genetic findings and familial patterns. The counseling process must be personalized, taking into account the patient's educational level, psychological state, and ethical considerations. Conclusion: Accurate diagnosis and effective genetic counseling are crucial for managing AD and informing at-risk individuals. Understanding genetic risk and recurrence probabilities aids in personalized prevention strategies and decision-making. Genetic counselors play a vital role in providing tailored advice while adhering to ethical standards and ensuring informed, empathetic communication with patients and their families.

Singapore, a highly affluent island city-state located in Southeast Asia, has increasingly leveraged new assisted reproductive technologies (ART) to overcome its dismal fertility rates in recent years. A new frontier in ART is preimplantation genetic testing (PGT) for polygenic risk scores (PRS) to predict complex multifactorial traits in IVF (in vitro fertilisation) embryos, such as type 2 diabetes, cardiovascular diseases and various other characteristics like height, intelligence quotient (IQ), hair and eye colour. Unlike well-known safety risks with human genome editing, there are negligible risks with PGT-P, because there are no man-made genetic modifications that can be transmitted to future generations. Nevertheless, the current efficacy of using PGT-P to select IVF embryos for either increased or decreased probability of developing specific polygenic traits is still far from certain. Hence, the regulatory safeguards proposed here will be based on the assumption that the efficacy of this new technology platform has already been validated. These include: (1) restricting the application of PGT-P only for prevention of clinically relevant polygenic disease traits, (2) securely blocking patients' access to the raw genomic DNA sequencing data of their IVF embryos, (3) validating diagnosis of polygenic disease traits in the prospective parents/grandparents of IVF embryos, and restricting PGT-P only for preventing specifically diagnosed polygenic disease traits and (4) mandating rigorous and comprehensive genetic counselling for IVF patients considering PGT-P. There is an urgent and dire need to prevent abuse of the PGT-P technique, as well as protect the interests and welfare of patients if its clinical application is to be permitted in the country. Data availability statement No data are available.

Historically, medical geneticists and genetic counselors have provided the majority of genetic services. Advances in technology, reduction in testing costs, and increased public awareness have led to a growing demand for genetic services in both clinical and directto-consumer spaces. Recent and anticipated changes in the workforce of genetic counselors and medical geneticists require a reexamination of the way we educate health-care providers and the means by which we provide access to genetic services. The time is ripe for rapid growth of genetic and genomic services, but to capitalize on these opportunities, we need to consider a variety of educational mechanisms to reach providers both within and beyond the traditional genetic counseling and medical genetics sectors, including nurses, physician assistants, and nongenetics physicians. This article summarizes the educational efforts underway in each of these professions.

Las directrices o voluntades anticipadas en la atencion al final de la vida han pasado a ocupar un lugar central en la pandemia de COVID-19, particularmente debido al desbordamiento de pacientes clínicamente complicados en entornos hospitalarios. Dada esta importancia, y en el contexto del Programa Interdisciplinario de Certificacion: Aging, Public Health and Palliave Care de la Universidad de Rochester,NY.. nos propusimos describir las fortalezas y limitaciones para implementar directrices anticipadas en Latinoamerica. Para ello, exploramos los conocimientos y actitudes de profesionales y académicos en nuestra region involucrados en Bioetica.

Companies have recently begun to sell a new service to patients considering in vitro fertilization: embryo selection based on polygenic scores (ESPS). These scores represent individualized predictions of health and other outcomes derived from genomewide association studies in adults to partially predict these outcomes. This article includes a discussion of many factors that lower the predictive power of polygenic scores in the context of embryo selection and quantifies these effects for a variety of clinical and nonclinical traits. Also discussed are potential unintended consequences of ESPS (including selecting for adverse traits, altering population demographics, exacerbating inequalities in society, and devaluing certain traits). Recommendations for the responsible communication about ESPS by practitioners are provided, and a call for a society-wide conversation about this technology is made. (Funded by the National Institute on Aging and others.

Resumen El artículo explora las mutaciones en las prácticas de los profesionales de la salud en el contexto de la covid-19. Se centra en “el área covid” de un hospital de la provincia de Buenos Aires, Argentina, buscando conocer el reordenamiento del espacio y rutinas hospitalarias, y las formas de comunicar la muerte. En un período corto de tempo se observan ajustes en las prácticas profesionales e intentos de nuevas rutinas y rituales. En el vínculo médico/paciente y en la forma de comunicar una muerte se condensan tanto las acciones “excepcionales” (que vulneram rutinas) como intentos de recuperar técnicas de cuidado vinculados al paradigma de la medicina humanizada.

This study assesses the health-related quality-of-life (HRQL) effects of chorionic villi sampling (CVS) and genetic amniocentesis (GA), including both process and outcomes of prenatal diagnosis. The HRQL of 126 women participating in a randomized controlled clinical trial of CVS versus GA in Toronto and Hamilton, Ontario, was assessed in four interviews at weeks 8, 13, 18, and 22 of pregnancy. Statistical analyses included analysis of variance, repeated measures analysis of covariance, chi-square, Fisher's exact test, Student's t-tests, and paired t-tests. Utility scores for patients undergoing CVS exceeded those for GA patients at week 18 (p 5 0.04). Utility scores for hypothetical health states did not differ significantly by trial arm. CVS results in slightly improved HRQL during prenatal diagnosis. This advantage needs to be weighed against the high disutility patients attach to infrequent outcomes associated with pregnancy losses, equivocal diagnoses, and diagnostic inaccuracy.

This study assesses the health-related quality-of-life (HRQL) effects of chorionic villi sampling (CVS) and genetic amniocentesis (GA), including both process and outcomes of prenatal diagnosis. The HRQL of 126 women participating in a randomized controlled clinical trial of CVS versus GA in Toronto and Hamilton, Ontario, was assessed in four interviews at weeks 8, 13, 18, and 22 of pregnancy. Statistical analyses included analysis of variance, repeated measures analysis of covariance, chi-square, Fisher's exact test, Student's t-tests, and paired t-tests. Utility scores for patients undergoing CVS exceeded those for GA patients at week 18 (p 5 0.04). Utility scores for hypothetical health states did not differ significantly by trial arm. CVS results in slightly improved HRQL during prenatal diagnosis. This advantage needs to be weighed against the high disutility patients attach to infrequent outcomes associated with pregnancy losses, equivocal diagnoses, and diagnostic inaccuracy.

Significant advancements towards a future of big data genomic medicine, associated with large-scale public dataset repositories, intensify dilemmas of genomic privacy. To resolve dilemmas adequately, we need to understand the relative force of the competing considerations that make them up. Attitudes towards genomic privacy are complex and not well understood; understanding is further complicated by the vague claim of ‘genetic exceptionalism’. In this paper, we distinguish between consequentialist and non-consequentialist privacy interests: while the former are concerned with harms secondary to exposure, the latter represent the interest in a private sphere for its own sake, as an essential component of human dignity. Empirical studies of attitudes towards genomic privacy have almost never targeted specifically this important dignitary component of the privacy interest. In this paper we first articulate the question of a non-consequentialist genomic privacy interest, and then presen...

Com os constantes avanços das técnicas de manipulação genética, o campo da saúde coletiva passou a lidar com a possibilidade de surgimento de uma ênfase genômica reducionista, para além das influências sócio-culturais. Nestas circunstâncias, o foco principal das intervenções em saúde coletiva voltar-se-ia para a abordagem genômica de "indivíduos" e suas "famílias" em detrimento de seu consagrado objeto - "populações". Assim, seria deslocada a prioridade central dos esforços (e recursos) para reduzir o adoecimento em função das desigualdades sócio-econômicas. Ao lado dos benefícios dos conhecimentos genéticos, há a possibilidade de surgimento de novas práticas eugênicas a partir da disponibilização de testagens genéticas no mercado, com vistas à aquisição pelos indivíduos interessados, desde que estes sejam capazes de atuarem como respectivos agentes de consumo.

Resumo: A Genética Médica (GM) cumpre papel importante nas políticas públicas de prevenção, controle e tratamento de doenças. O estabelecimento de currículo mínimo de GM pela Sociedade Brasileira de Genética Médica e Genômica (SBGM) foi um marco para a formação médica. O presente estudo teve como objetivo elencar os principais conhecimentos, habilidades e atitudes em GM que o egresso de medicina deve possuir para o correto manejo dos pacientes na Atenção Primária à Saúde. Foram utilizados 14 estudos sobre o ensino de GM em cursos de medicina, publicados em português, inglês e espanhol entre 2010 e 2020, sendo excluídos estudos desenvolvidos no âmbito de residência médica e com outros profissionais. O perfil de competências mínimas em GM contempla: a identificação das condições genéticas mais frequentes; a comunicação adequada destas condições para as famílias, auxiliando a tomada de decisões; o correto manejo clínico de acordo com diretrizes vigentes; e saber quando encaminhar o paciente e a família para o médico geneticista e para suporte psicológico e social. A anamnese, o exame físico, com especial atenção para a antropometria e dismorfologia, e coleta do histórico familiar com construção de heredograma com pelo menos três gerações são habilidades básicas requeridas do egresso. Sugere-se que escolas médicas possam inserir e/ou adaptar o perfil proposto pela SBGM para melhoria da formação médica. O conhecimento mínimo de GM, dos novos métodos de rastreio e protocolos de referenciamento pelo egresso promove melhor fluxo dos pacientes pelo Sistema Único de Saúde, mitigando o sofrimento de pacientes e familiares.

What is eugenics? Why do so many people think that eugenics is wrong? Should we stop talking about eugenics? Conclusions Selective Reproduction Selective reproduction: methods and aims Objections to selective reproduction (1): eugenics Objections to selective reproduction (2): the Equal Value Principle Objections to selective reproduction (3): harmful consequences Objections to selective reproduction (4): the Expressivist Argument Conclusions Choosing Disability Harm to the child (Part I)-existence vs. non-existence Harm to the child (Part II)-is deafness really a disability? Is all disability 'socially constructed'? Harm to the child (Part III)-what is harm? A different argument about harm: general levels of wellbeing Higher welfare and 'designer babies' Further reasons against banning selecting for disability Conclusions Sex Selection Methods old and new Reasons for sex selection: medical and social Objections to sex selection (1): bad consequences Objections to sex selection (2): bad motives Family balancing: is it a special case? Conclusions Eugenics and the Ethics of Selective Reproduction ii iii iv

With the increasing awareness of genetic contributions to disease in Canada, the availability of and demand for genetic testing has soared. Genetic counseling is becoming a recognized and rapidly growing (yet unregulated) health profession in Canada. We hypothesized that the potential risk for harm to the public posed by genetic counseling practice in the province of Ontario is sufficient to consider regulation. The Ontario Ministry of Health and Long-Term Care (MOHTLC) sets criteria (both primary and secondary) to identify health professional bodies that meet the threshold for regulation in the province. We developed a survey based on the MOHTLC criteria to determine if genetic counselors meet the primary criteria to be considered for health professions regulation in Ontario. We surveyed 120 Ontario genetic counselors about their clinical practice and perceptions of risk for harm to the public. Results indicate that Ontario genetic counselors are highly independent in their clinical practice and are involved in patient care activities, clinical judgement and decisionmaking that have the potential to harm patients. In particular, cancer genetic counselors were identified as a cohort that practices with relatively high autonomy and low supervision. In summary, our study indicates that genetic counseling practice in Ontario meets the primary criteria to be considered for regulation.

Cancer-related genetic and genomic testing (CGT) is changing cancer care by personalizing care options, leading to an era of precision medicine. Advances in and increased use of CGT add complexity to clinical communication. This landscape analysis assessed published reviews of communication issues related to CGT and discusses implications for practice and behavioral research. A comprehensive electronic literature search was conducted of peer-reviewed literature reviews on studies related to CGT communication published between January 2010 and January 2017, resulting in a final sample of 24 reviews. Reviews were categorized, with overlaps, into four domains across the genetic testing communication continuum. Reviews on CGT-related knowledge, attitudes, and perceptions (n = 8) found that despite substantial public interest, their knowledge and awareness remains low. Providers also reported insufficient knowledge and overall caution, particularly regarding direct-toconsumer (DTC) genetic testing. Reviews of decision-making about CGT and test uptake (n = 8) identified individual, interpersonal, and systems-level barriers to uptake. Reviews of patient-provider CGT communication (n = 8) revealed limited communication and little empirical research on outcomes of communication or efforts at improving clinical and family communication. There were mixed findings in reviews (n = 15) on the psychological and behavioral impact of CGT, and DTC testing particularly had little effect on behaviors. Taken together, there is very little extant research in CGT in minority and underserved communities. In order for scientific advances in CGT to translate into equitable, patient-centered care, behavioral research, including health literacy and communication, plays critical roles.

Lexigene® (www.lexigene.com) is an online lexicon which provides the translation of terms related to medical genetics, and more specifically, to the profession of genetic counseling. This report describes how a team of genetic counselors (GCs) created Lexigene® to improve the communication of genetic information to patients in languages other than English.

It is every parent’s joy to have well-spaced children. The importance of birth spacing and the proper use of NFP methods in achieving proper birth spacing, is something to grasp.
The African understanding and practice of NFP is the most satisfying and beautiful model of spacing children. This understanding of natural family planning is majorly based on two pillars; culture and the value of life. The main reason for this claim is the profound understanding and belief that life is the most valued asset among Africans. Africans believe that life is a gift from God for they are notoriously religious as Mbiti postulates. They also believe that life is fostered by the ancestors, and it is at the center of social life without which everything else becomes meaningless. God being the giver and center of human life makes African understanding and practice of natural planning compatible with the Church’s teachings on procreation and responsible parenthood.
This work indeed presents the daily experiences and practice of begetting and spacing children in a natural and responsible manner among Africans. The research includes both modern practices and traditional practices of natural family planning in African societies. From this work, we shall be able to know the African and the theological perspective of NFP. We shall also see what the scriptures, the church fathers, and the church documents deliberate about the noble act of spacing children and the value of life.
Finally, we shall be able to examine how this practice is beneficial to the couple who practice it, its effectiveness and how we can be able to implement it in our parishes, institutions, and in our society at large.

Background Immense volumes of personal health information (PHI) are required to realize the anticipated benefits of artificial intelligence in clinical medicine. To maintain public trust in medical research, consent policies must evolve to reflect contemporary patient preferences. Methods Patients were invited to complete a 27-item survey focusing on: (a) broad versus specific consent; (b) opt-in versus opt-out approaches; (c) comfort level sharing with different recipients; (d) attitudes towards commercialization; and (e) options to track PHI use and study results. Results 222 participants were included in the analysis; 83% were comfortable sharing PHI with researchers at their own hospital, although younger patients (≤ 49 years) were more uncomfortable than older patients (50 + years; 13% versus 2% uncomfortable, p < 0.05). While 56% of patients preferred broad consent, 38% preferred specific consent; 6% preferred not sharing at all. The majority of patients (63%) preferred to ...

Dissertation supervised by Dr. Gerard Magill This dissertation develops a revised model of informed consent for PGT. The need for this model arises from distinguishing characteristics of PGT, which make it distinctive from other forms of health-related testing. These characteristics are: the difficulty in understanding genetic risks and probabilities; the problem of treatment options for diagnosed genetic traits; and the concern with family-related genetic information. The first chapter explains PGT to identify these characteristics that shape the revised model of consent. The second chapter explores the history of consent to identify the widely recognized components of consent (understanding, disclosure, and voluntariness) that represent the current model. The third chapter explains the revised model by aligning the three distinguishing characteristics of PGT with the three widely v recognized components in the current model. At the end, the revised model is applied to direct-to-consumer and pleiotropic genetic testing. To explain the significance of the revised model of consent, the following main categories are discussed. First, PGT involves a risk analysis of the related probabilities that can be complicated for patients to comprehend. This point develops the importance of understanding in the current model. Risk assessment involves calculating probabilities to determine the likelihood of developing a disease. To accomplish this, the relation between autonomy and comprehension is crucial. The current model uses an approach to autonomy that is standardized and generic, focusing on consent by providing a signature to accept or reject a test. The revised model enhances patient involvement by adopting a more extensive approach, described as a process rather than as an event. Typically the current model does not offer a large amount of time to comprehending risk assessments. The additional time and complexity involved in comprehending the connection between risk and probability has significant implications for patient education by the doctor, thereby developing the meaning of the doctor-patient relationship. For example, the emergence of the so-called Nocebo Effect needs to be considered here. Second, there are complex treatment options, including no treatment for some diseases, that require genetic counseling to select an appropriate option. This point develops the importance of disclosure in the current model. Typically the current model emphasizes appropriate disclosure of information. The revised model takes this further and recognizes that this disclosure needs to be accompanied with genetic counseling both before and after testing to enhance decision making about a suitable option. Appropriate genetic counseling must include patient assessment and feedback mechanisms. vi Third, PGT involves family-related information with accompanying implications that can compromise voluntariness. This third point develops the importance of avoiding coercion of both the patient and the patient's family when information is presented. The third distinctive characteristic of PGT is the relevance of genetic information for the patient's family. In the current model, family-related coercion is often difficult to identify. The revised model ensures voluntary consent by establishing procedures to avoid two forms of coercion: pressure by the family for the patient to be tested (eg, if there is a family genetic trait already known, there can be pressure upon a child to be tested to ascertain if s/he is a carrier etc); and pressure upon the family regarding the testing outcome (eg, if a trait emerges that affects other siblings, a process needs to be undertaken to ascertain whether the sibling wants to know). The revised model of consent requires an additional component to the traditionally recognized three components (comprehension, disclosure, voluntariness): the culture of patient safety. That is, the revised model of consent enhances the traditional components of consent within a medical culture that emphasizes patient safety. This safety culture requires nationally established systems of accountability for PGT that implement the revised components of consent in a transparent manner to foster trust in the emerging system of genetic-related services. vii

Dissertation supervised by Dr. Gerard Magill This dissertation develops a revised model of informed consent for PGT. The need for this model arises from distinguishing characteristics of PGT, which make it distinctive from other forms of health-related testing. These characteristics are: the difficulty in understanding genetic risks and probabilities; the problem of treatment options for diagnosed genetic traits; and the concern with family-related genetic information. The first chapter explains PGT to identify these characteristics that shape the revised model of consent. The second chapter explores the history of consent to identify the widely recognized components of consent (understanding, disclosure, and voluntariness) that represent the current model. The third chapter explains the revised model by aligning the three distinguishing characteristics of PGT with the three widely v recognized components in the current model. At the end, the revised model is applied to direct-to-consumer and pleiotropic genetic testing. To explain the significance of the revised model of consent, the following main categories are discussed. First, PGT involves a risk analysis of the related probabilities that can be complicated for patients to comprehend. This point develops the importance of understanding in the current model. Risk assessment involves calculating probabilities to determine the likelihood of developing a disease. To accomplish this, the relation between autonomy and comprehension is crucial. The current model uses an approach to autonomy that is standardized and generic, focusing on consent by providing a signature to accept or reject a test. The revised model enhances patient involvement by adopting a more extensive approach, described as a process rather than as an event. Typically the current model does not offer a large amount of time to comprehending risk assessments. The additional time and complexity involved in comprehending the connection between risk and probability has significant implications for patient education by the doctor, thereby developing the meaning of the doctor-patient relationship. For example, the emergence of the so-called Nocebo Effect needs to be considered here. Second, there are complex treatment options, including no treatment for some diseases, that require genetic counseling to select an appropriate option. This point develops the importance of disclosure in the current model. Typically the current model emphasizes appropriate disclosure of information. The revised model takes this further and recognizes that this disclosure needs to be accompanied with genetic counseling both before and after testing to enhance decision making about a suitable option. Appropriate genetic counseling must include patient assessment and feedback mechanisms. vi Third, PGT involves family-related information with accompanying implications that can compromise voluntariness. This third point develops the importance of avoiding coercion of both the patient and the patient's family when information is presented. The third distinctive characteristic of PGT is the relevance of genetic information for the patient's family. In the current model, family-related coercion is often difficult to identify. The revised model ensures voluntary consent by establishing procedures to avoid two forms of coercion: pressure by the family for the patient to be tested (eg, if there is a family genetic trait already known, there can be pressure upon a child to be tested to ascertain if s/he is a carrier etc); and pressure upon the family regarding the testing outcome (eg, if a trait emerges that affects other siblings, a process needs to be undertaken to ascertain whether the sibling wants to know). The revised model of consent requires an additional component to the traditionally recognized three components (comprehension, disclosure, voluntariness): the culture of patient safety. That is, the revised model of consent enhances the traditional components of consent within a medical culture that emphasizes patient safety. This safety culture requires nationally established systems of accountability for PGT that implement the revised components of consent in a transparent manner to foster trust in the emerging system of genetic-related services. vii

Politics has come to stay in the human society. It embraces almost all human activities. However, several people are of the perception that there should be a total separation between the Church and state politics. They claim that individual Christians and Christian leaders should have nothing to do with societal politics. Such people should know that the Church is an organization pregnant with the same people in such society. So, for the Church to establish a holistic impact, it should be interested in all the activities that have sustained the society. Thus, our country's political situation is part of the social context within which our Christian conviction is to be exercised. The Church as a religious body which proclaims hope and empower people must be found making a bold and interrupted move towards sanitizing societal politics.

Globally, due to public concerns of genetic discrimination, some countries and insurance industries have adopted policies restricting insurer use of genetic information, such as the US Genetic Information Nondiscrimination Act (GINA). This study reports on a combined analysis of two surveys assessing public knowledge of GINA and concerns of genetic discrimination in a diverse US sample (N = 1616). We focus on whether occupation, genetic testing history, and insurance status are correlated with knowledge of GINA or concerns of discrimination. While bivariate analysis identified some populations with higher subjective/objective knowledge and concern relative to counterparts, multivariable regression identified very few significant associations with outcomes of interest. Overall, this study highlights a lack of awareness and understanding of GINA, even among subpopulations hypothesized to have greater knowledge of the law. These findings have implications for the broader debate around ...

WHO in 2019 established the Advisory Committee on Developing Global Standards for Governance and Oversight of Human Genome Editing, which has recently published a Draft Governance Framework on Human Genome Editing. Although the Draft Framework is a good point of departure, there are four areas of concern: first, it does not sufficiently address issues related to establishing safety and efficacy. Second, issues that are a source of tension between global standard setting and state sovereignty need to be addressed in a more nuanced fashion. Third, it fails to meaningfully engage with the extent to which the conceptualisation of human dignity may justifiably vary between jurisdictions. Fourth, the meaning of harm to the interests of a future person requires clarity. Provided these four areas of concern can be addressed, the future of the global governance of human genome editing may hold promise.

Procreative obligations are often discussed by evaluating only the consequences of reproductive actions or omissions; less attention is paid to the moral role of intentions and attitudes. In this paper, I assess whether intentions and attitudes can contribute to defining our moral obligations with regard to assisted reproductive technologies already available, such as preimplantation genetic diagnosis (PGD), and those that may be available in future, such as reproductive genome editing and ectogenesis, in a way compatible with person-affecting constraints. I propose the parent–child relationship argument, which is based on the moral distinction between creating and parenting a child. Hence, I first argue that intentions and attitudes can play a role in defining our moral obligations in reproductive decisions involving PGD. Second, I maintain that if we accept this and recognize reproductive genome editing and ectogenesis as person-affecting procedures, we should be committed to arguing that prospective parents may have moral reasons to prefer reproduction via such techniques than via sexual intercourse. In both cases, I observe an extension of our procreative responsibility beyond what is proposed by the consequentialist person-affecting morality.

BackgroundDecision-making in initiating life-sustaining health technology is complex and often conducted at time-critical junctures in clinical care. Many of these decisions have profound, often irreversible, consequences for the child and family, as well as potential benefits for functioning, health and quality of life. Yet little is known about what influences these decisions. A systematic review of reasoning identified the range of reasons clinicians give in the literature when initiating technology dependence in a child, and as a result helps determine the range of influences on these decisions.MethodsMedline, EMBASE, CINAHL, PsychINFO, Web of Science, ASSIA and Global Health Library databases were searched to identify all reasons given for the initiation of technology dependence in a child. Each reason was coded as a broad and narrow reason type, and whether it supported or rejected technology dependence.Results53 relevant papers were retained from 1604 publications, containing...

Prior to the Nuremberg Code, German Law had prohibited research on subjects without their consent. Yet, German Law could not restrain the Nazi research machine. Likewise, the United States Public Health Service continued research on poor black men in the southern US for 25 years after the promulgation of the Nuremberg Code. Once the Tuskegee Experiments were exposed, it prompted philosophers to articulate the more general and philosophically robust norms and principles that should ground and guide all future research and practice. Yet, this move to more general principles results in the deflation of metaphysical concepts traditionally thought necessary for ethics, namely the concept of the good and the concept of persons. Put differently, modern principles of biomedical ethics that seek to avoid pluralism and relativism grounds its ideas in the philosophy of right action at the expense of the philosophy of good. This essay argues that, because medicine is aimed at health, and the goods possible for persons in health, any ethics of medicine must be grounded in a philosophy of the goods for persons and goods of persons.

The skill sets of genetic counselors are strongly utilized in industry, as evidenced by 20% of genetic counselors reporting employment within industry in 2016. In addition, industry genetic counselors are expanding their roles, taking on new responsibilities, and creating new opportunities. These advances have impacted the profession as a whole including, but not limited to, genetic counseling training curricula, a shift back to genetic counseling directly to patients, and a growing influence of genetic counselors on industry test offerings. Industry genetic counselors and training programs are working together to address the challenges and opportunities presented by workforce changes and novel interpretations of how genetic counselors' core competencies can be utilized. Counseling of patients by industry genetic counselors has become more commonplace and addresses a need for alternate service delivery models. Industry genetic counselors often provide significant contributions t...

Purpose: To describe nongenetics clinicians' perceptions and knowledge of cancer genetics and laws prohibiting genetic discrimination, attitudes toward the use of cancer genetic testing, and referral practices. Methods: Invitations to participate were sent to a random stratified sample of California Medical Association members and to all members of California Association of Nurse Practitioners and California Latino Medical Association. Responders in active practice were eligible and completed a 47-item survey. Results: There were 1181 qualified participants (62% physicians). Although 96% viewed genetic testing as beneficial for their patients, 75% believed fear of genetic discrimination would cause patients to decline testing. More than 60% were not aware of federal or California laws prohibiting health insurance discrimination-concern about genetic discrimination was selected as a reason for nonreferral by 11%. A positive attitude toward genetic testing was the strongest predictor of referral (odds ratio: 3.55 [95% confidence interval: 2.24-5.63], P Ͻ 0.001) in stepwise logistic regression analyses. The higher the belief in genetic discrimination, the less likely a participant was to refer (odds ratio: 0.72 [95% confidence interval: 0.518-0.991], P Ͻ 0.05), whereas more knowledge of genetic discrimination law was associated with comfort recommending (odds ratio: 1.18 [95% confidence interval: 1.11-1.25], P Ͻ 0.001) and actual referral (odds ratio: 3.55 [95% confidence interval: 2.24-5.63], P Ͻ 0.001). Conclusion: Concerns about genetic discrimination and knowledge deficits may be barriers to cancer genetics referrals. Clinician education may help promote access to cancer screening and prevention.

Preimplantation genetic testing for polygenic disease risk (PGT-P) represents a new tool to aid in embryo selection. Previous studies demonstrated the ability to obtain necessary genotypes in the embryo with accuracy equivalent to in adults. When applied to select adult siblings with known type I diabetes status, a reduction in disease incidence of 45–72% compared to random selection was achieved. This study extends analysis to 11,883 sibling pairs to evaluate clinical utility of embryo selection with PGT-P. Results demonstrate simultaneous relative risk reduction of all diseases tested in parallel, which included diabetes, cancer, and heart disease, and indicate applicability beyond patients with a known family history of disease.

Background: Pre-implantation genetic diagnosis (PGD) is a modern technique in reproductive medicine which can be used to diagnose genetic disorders of an embryo. PGD is currently not legal in Germany, still there are debates being held regarding the issue of legalization. Both the internationally ''accepted'' indications and new or alternative approaches can lead to complex ethical dilemmas. The attitudes towards PGD have rarely been assessed in the general population. Methods: In our study, 2110 persons aged 18-50 years were interviewed about their attitudes towards PGD and related topics. We assumed that religion, world views and the evaluation of PGD would influence the attitude a person has towards this procedure. Results and conclusions: In our survey, the majority of respondents would agree to a restricted legalization of PGD in Germany. Our results also confirmed some of our assumptions but religion did not have the expected influence. The evaluation of costs and benefits of PGD and the feelings associated with this technique explained more of the final attitude whether PGD should remain prohibited in Germany or not. The agreement to a restricted legalization may be connected to an overall rejection of prohibitions made by the state concerning the individual reproductive autonomy.

INTRODUÇÃO "A favor da evolução e da vida", diz-nos o material publicitário de uma empresa especializada em biologia molecular e em exames genéticos. Cada vez mais comuns no Brasil-sobretudo na rede privada de saúde mas também em expansão no Sistema Único de Saúde (SUS)-tais serviços pretendem, especialmente, avaliar com precisão a ocorrência ou o risco de ocorrência de doenças de causas genéticas em indivíduos específicos, seus familiares e futuros descendentes (BRUNONI, 2002; PINA-NETO, 2008). Esse conjunto de práticas condensa-se no processo de aconselhamento genético, uma especialidade surgida na década de 50 que, desde então, não parou de ganhar respaldo e adeptos na medicina. Indivíduos cujas famílias carregam um histórico de patologias genéticas ou casais preocupados com a possibilidade de transmitir uma herança biológica defeituosa a seus filhos compõem os principais clientes desse tipo de serviço. Quanto ao primeiro caso, a experiência de Angelina Jolie serve como exemplo dos mais emblemáticos. No dia 14 de maio de 2013, a atriz norte-americana anunciou, por meio de uma publicação no The New York Times intitulada "My medical choice", ter se submetido a uma mastectomia dupla preventiva a fim de reduzir suas chances de ter câncer. Sua decisão pautou-se no resultado de um teste genético que revelara ser ela portadora de um gene "defeituoso", o BRCA1, responsável por um aumento significativo na probabilidade de desenvolvimento dos cânceres de mama e de ovário. "Quando tomei conhecimento dessa minha condição, decidi ser proativa e reduzir ao mínimo o risco", afirmou Jolie, acrescentando que gostaria de "encorajar toda mulher, especialmente se ela tiver um histórico familiar de câncer de mama ou ovariano, a buscar informações e especialistas médicos que possam ajudá-la a enfrentar este aspecto de sua vida, e tomar suas próprias decisões informadas". Após a cirurgia, a probabilidade de que a atriz tenha câncer de mama caiu de 87% para menos de 5%. Nos dias seguintes à publicação do artigo de Angelina Jolie, acenderam-se, na mídia brasileira, vários debates em torno da inclusão de exames genéticos no SUS, dos preços cobrados por esses serviços em 1 brought to you by CORE View metadata, citation and similar papers at core.ac.uk

The purpose of this pilot study was to describe communication practices during hereditary breast cancer genetic counseling (GC) with low-income immigrant Latina patients in a public hospital setting. We utilized qualitative ethnographic methods, including direct observation of GC appointments with Latina patients at a public hospital offering free GC and BRCA testing and in-depth qualitative interviews with patients after they had received their BRCA genetic test results. Twenty-five patients participated; 20 were observed during genetic counseling appointments, and ten participated in interviews after BRCA testing with six participating in both observations and an interview. Analyses of qualitative data from observation field notes and interviews identified both strengths and limitations of current communication practices within the following themes: (1) family health history communication, (2) education regarding genes and genetics and patient information needs, (3) the purpose of...

Artigo destinado a avaliar o uso da informação genética, em sede de diagnósticos realizados durantes processos de procriação, justificado pelo argumento da efetivação do direito à saúde. Busca-se avaliar o uso desse tipo de informação à luz da necessária proteção à naturalidade do patrimônio genético considerando a proposta emanada do sentido de alteridade. É necessário compreender o conceito atual de saúde, bem como investigar se a prática diagnóstica com base na informação genética coaduna condutas eugênicas e seletivas, na medida em que possa estar pautada por juízos terapêuticos ou não terapêuticos. Impende delinear o limite permissivo de tais condutas com fulcro na proteção dos bens jurídicos constitucionais.

The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most common justifications of prenatal testing for fetal aneuploidy that have been put forth over the half century of its existence: reducing the medical and economic burden to society of genetic disease through selective abortion, allowing parents to avoid raising a child with disabilities, preventing the suffering associated with chromosomal and genetic disorders, emotional reassurance about the health of the baby, and medical and emotional preparation for the birth of a baby with a disability. Each of these goals has problematic aspects, as do some of the criticisms of these goals. The most striking shortcoming of the justifications for prenatal testing is a dearth of research about potential medical, psychological, or adaptational benefits of prenatal testing, especially for aneuploidy, for babies and families, beyond the option of pregnancy termination.