Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.

This Position Statement provides guidelines for health professionals who work with individuals and families seeking predictive genetic testing and laboratory staff conducting the tests. It presents the major practical, psychosocial and ethical considerations associated with presymptomatic and predictive genetic testing in adults who have the capacity to make a decision, children and young people who lack capacity, and adults living with reduced or fluctuating cognitive capacity.Predictive Testing Recommendations: (1) Predictive testing in adults, young people and children should only be offered with pretest genetic counseling, and the option of post-test genetic counseling. (2) An individual considering whether to have a predictive test should be supported to make an autonomous and informed decision. Regarding Children and Young People: (1) Predictive testing should only be offered to children and young people for conditions where there is likely to be a direct medical benefit to them through surveillance, use of prevention strategies, or other medical interventions in the immediate future. (2) Where symptoms are likely to develop in childhood, in the absence of direct medical benefit from this knowledge, genetic health professionals and parents/guardians should discuss whether undertaking predictive testing is the best course of action for the child and the family as a whole. (3) Where symptoms are likely to develop in adulthood, the default position should be to postpone predictive testing until the young person achieves the capacity to make an autonomous and informed decision. This is applicable regardless of whether there is some action that can be taken in adulthood.

Community partnerships are fundamental to ethical ancient DNA research.

The ethics of the scientific study of Ancestors has long been debated by archaeologists, bioanthropologists, and, more recently, ancient DNA (aDNA) researchers. This article responds to the article "Ethics of DNA research on human remains: five globally applicable guidelines" published in 2021 in Nature by a large group of aDNA researchers and collaborators. We argue that these guidelines do not sufficiently consider the interests of community stakeholders, including descendant communities and communities with potential, but yet unestablished, ties to Ancestors. We focus on three main areas of concern with the guidelines. First is the false separation of "scientific" and "community" concerns and the consistent privileging of researcher perspectives over those of community members. Second, the commitment of the guidelines' authors to open data ignores the principles and practice of Indigenous Data Sovereignty. Further, the authors argue that involving community members in decisions about publication and data sharing is unethical. We argue that excluding community perspectives on "ethical" grounds is convenient for researchers, but it is not, in fact, ethical. Third, we stress the risks of not consulting communities that have established or potential ties to Ancestors, using two recent examples from the literature. Ancient DNA researchers cannot focus on the lowest common denominator of research practice, the bare minimum that is legally necessary. Instead, they should be leading multidisciplinary efforts to create processes to ensure communities from all regions of the globe are identified and engaged in research that affects them. This will often present challenges, but we see these challenges as part of the research, rather than a distraction from the scientific endeavor. If a research team does not have the capacity to meaningfully engage communities, questions must be asked about the value and benefit of their research.

On the report of the ASHG "Facing Our History-Building an Equitable Future" initiative.

The American Society of Human Genetics (ASHG)-and the research community it supports-believes in the power of human genetics to advance science, health, and society. However, ASHG and the field have failed to acknowledge, fully and consistently, the misuse of human genetics to serve unjust ends or take action to denounce such use. As the community's oldest and largest professional society, ASHG also has been late in making explicit efforts to integrate equity, diversity, and inclusion into its values, programs, and voice. The Society affirmatively seeks to reckon with, and sincerely apologizes for, its involvement in and silence on the misuse of human genetics research to justify and contribute to injustices in all forms. It commits to sustain and expand its integration of equitable and just principles in the study and use of human genetics research, taking both immediate actions and swiftly determining longer-term goals it will set to realize the benefits of human genetics and genomics research for all.

Facing Our History-Building an Equitable Future.

This report is the product of a major year-long initiative to acknowledge and reckon with past injustice, as well as progress toward justice, within the American Society of Human Genetics (ASHG) and the broader field of human genetics. Approved by the ASHG Board of Directors and launched in 2021, the initiative was sparked by the social and racial reckonings in 2020. The ASHG Bboard of Directors asked ASHG to acknowledge and provide examples of how human genetics theories and knowledge "have been used to feed and justify racism, eugenics, and other systemic forms of injustice, and to focus specifically on examples of ASHG's role in fostering or failing to rebuke harms and on steps the Society could take to address findings." The initiative was undertaken with support and input from an expert panel of human geneticists, historians, clinician-scientists, equity scholars, and social scientists and included a research and environmental scan, four expert panel meetings, and a community dialogue as its main activities.

Ethics of DNA research on human remains: five globally applicable guidelines.

We are a group of archaeologists, anthropologists, curators and geneticists representing diverse global communities and 31 countries. All of us met in a virtual workshop dedicated to ethics in ancient DNA research held in November 2020. There was widespread agreement that globally applicable ethical guidelines are needed, but that recent recommendations grounded in discussion about research on human remains from North America are not always generalizable worldwide. Here we propose the following globally applicable guidelines, taking into consideration diverse contexts. These hold that: (1) researchers must ensure that all regulations were followed in the places where they work and from which the human remains derived; (2) researchers must prepare a detailed plan prior to beginning any study; (3) researchers must minimize damage to human remains; (4) researchers must ensure that data are made available following publication to allow critical re-examination of scientific findings; and (5) researchers must engage with other stakeholders from the beginning of a study and ensure respect and sensitivity to stakeholder perspectives. We commit to adhering to these guidelines and expect they will promote a high ethical standard in DNA research on human remains going forward.

Australian human research ethics committee members' confidence in reviewing genomic research applications.

Human research ethics committees (HRECs) are evaluating increasing quantities of genomic research applications with complex ethical considerations. Genomic confidence is reportedly low amongst many non-genetics-experts; however, no studies have evaluated genomic confidence levels in HREC members specifically. This study used online surveys to explore genomic confidence levels, predictors of confidence, and genomics resource needs of members from 185 HRECs across Australia. Surveys were fully or partially completed by 145 members. All reported having postgraduate 94 (86%) and/or bachelor 15 (14%) degrees. Participants consisted mainly of researchers (n = 45, 33%) and lay members (n = 41, 30%), affiliated with either public health services (n = 73, 51%) or public universities (n = 31, 22%). Over half had served their HREC [Formula: see text]3 years. Fifty (44%) reviewed genomic studies [Formula: see text]3 times annually. Seventy (60%) had undertaken some form of genomic education. While most (94/103, 91%) had high genomic literacy based on familiarity with genomic terms, average genomic confidence scores (GCS) were moderate (5.7/10, n = 119). Simple linear regression showed that GCS was positively associated with years of HREC service, frequency of reviewing genomic applications, undertaking self-reported genomic education, and familiarity with genomic terms (p < 0.05 for all). Conversely, lay members and/or those relying on others when reviewing genomic studies had lower GCSs (p < 0.05 for both). Most members (n = 83, 76%) agreed further resources would be valuable when reviewing genomic research applications, and online courses and printed materials were preferred. In conclusion, even well-educated HREC members familiar with genomic terms lack genomic confidence, which could be enhanced with additional genomic education and/or resources.

Navigating a world of genes: A conceptual analysis of gene fetishism, geneticization, genetic exceptionalism and genetic essentialism.

Genetics, as a discipline, is an essential part of the modern world. However, analyzing the interaction between genetics and society can be complex. Therefore, terminology has arisen from diverse fields to better understand genetics and its relation to other domains. Nevertheless, the diverse origins of many of these terms, as well as a lack of clarity in their definitions, have led to differences in use. This paper focuses on four such terms: genetic fetishism, geneticization, genetic essentialism, and genetic exceptionalism. By clarifying what each term means, the fields that utilize them will be helped. Furthermore, these terms can have specific value to bioethics in analyzing ethical issues that arise from genetics and the interaction with the socio-cultural world. While these terms may not always be applicable, a more careful analysis of their meaning can cultivate a more scientific and rigorous analysis of the ways genetics impacts and is understood by humanity.

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.

If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.

Assessing the Intention to Provide Human Genetic Resources: An Explanatory Model.

BACKGROUND: Human genetic resources are an important material component for life science research and have strategic significance for medical science and technological innovation. In this study, we employ frameworks from social psychology and the science of human behavior to study human genetic resource providers. AIMS: We used structural equation techniques to explain factors affecting the intention to provide human genetic resources and the mechanisms for providing such resources. METHODS: We conducted an online survey with respondents from ethnic minorities (n = 912). Our model integrates key variables informed by the theory of planned behavior (TPB), the theory of benefit and risk assessment (BRA), as well as variables that represent the policy and political system. RESULTS: Our results show that the factors affecting the intention to provide human genetic resources, ranked from highly influential to less influential, are perceived benefits, privacy risk, attitudes toward providing human genetic resources, perceived behavioral efficacy, psychological risk, subjective norms, and physical risk. The variables informed by the TPB all have a significant positive effect on the intention to provide human genetic resources. With the exception of physical risk, the variables informed by the theory of BRA have a significant effect on the intention to provide human genetic resources. Respondents with different health conditions have significantly different levels of physical risk. CONCLUSIONS: The results of our study provide insights into how to improve people's intention to provide human genetic resources. We also proposed ways to protect such resources globally.

La mejora genética humana en los tiempos del CRISPR/Cas9 / Human genetic enhancement in times of CRISPR/Cas9 / La millora genètica humana en els temps del CRISPR/Cas9

La mejora genética en la especie humana ha suscitado desde siempre un amplio debate por lo que respecta a los aspectos éticos asociados a ella. Dicho debate había quedado circunscrito al ámbito meramente especulativo hasta la aparición de una nueva tecnología de edición genómica (CRISPR/Cas9) la cual lo ha reabierto al vislumbrarse una aplicabilidad a medio plazo que nos obliga a retomarlo y a reflexionar sobre la conveniencia o no de iniciar un camino excepcional en la historia de la evolución humana. En este artículo se detallan algunos de los argumentos esgrimidos a favor y en contra referentes a esta tecnología

Human genetic enhancement has always risen a wide debate regarding the ethical aspects associated with it. This debate had remained into a merely speculative realm until the appearance of a new genome editing technology (CRISPR / Cas9) which has reopened it when a mid-term applicability can be envisaged. This new situation forces us to resume it and ponder the convenience or not of initiating an exceptional path in the history of human evolution. This article details some of the arguments put forward in favour and against this technology

La millora genètica en l'espècie humana ha suscitat des de sempre un ampli debat pel que respecta als aspectes ètics associats a ella. Aquest debat havia quedat circumscrit a l'àmbit merament especulatiu fins l'aparició d'una nova tecnologia d'edició genòmica (CRISPR/Cas9) la qual l'ha reobert en albirar-se una aplicabilitat a mitjà termini que ens obliga a reflexionar sobre la conveniència o no d'iniciar un camí excepcional en la història de l'evolució humana. En aquest article es detallen alguns dels arguments esgrimits a favor i en contra referents a aquesta tecnologia