Moving Genomics into the Clinic: Platforms for Implementing Clinical Genomic Data-Sharing in Ways That Address Ethical, Legal and Social Implications.

This section explores the challenges involved in translating genomic research into genomic medicine. A number of priorities have been identified in the Australian National Health Genomics Framework for addressing these challenges. Responsible collection, storage, use and management of genomic data is one of these priorities, and is the primary theme of this section. The recent release of Genomical, an Australian data-sharing platform, is used as a case study to illustrate the type of assistance that can be provided to the health care sector in addressing this priority. The section first describes the National Framework and other drivers involved in the move towards genomic medicine. The section then examines key ethical, legal and social factors at play in genomics, with particular focus on privacy and consent. Finally, the section examines how Genomical is being used to help ensure that the move towards genomic medicine is ethically, legally and socially sound and that it optimises advances in both genomic and information technology.

Regulatory barriers to US-China collaboration for generative AI development in genomic research.

Here, we examine the challenges posed by laws in the United States and China for generative-AI-assisted genomic research collaboration. We recommend renewing the Agreement on Cooperation in Science and Technology to promote responsible principles for sharing human genomic data and to enhance transparency in research.

Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.

With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers of disease-associated variants are being identified. This ongoing progress might lead to diagnoses in formerly undiagnosed patients and novel insights in already solved cases. Therefore, many studies suggest introducing systematic reanalysis of NGS data in routine diagnostics. Introduction will, however, also have ethical, economic, legal and (psycho)social (ELSI) implications that Genetic Health Professionals (GHPs) from laboratories should consider before possible implementation of systematic reanalysis. To get a first impression we performed a scoping literature review. Our findings show that for the vast majority of included articles ELSI aspects were not mentioned as such. However, often these issues were raised implicitly. In total, we identified nine ELSI aspects, such as (perceived) professional responsibilities, implications for consent and cost-effectiveness. The identified ELSI aspects brought forward necessary trade-offs for GHPs to consciously take into account when considering responsible implementation of systematic reanalysis of NGS data in routine diagnostics, balancing the various strains on their laboratories and personnel while creating optimal results for new and former patients. Some important aspects are not well explored yet. For example, our study shows GHPs see the values of systematic reanalysis but also experience barriers, often mentioned as being practical or financial only, but in fact also being ethical or psychosocial. Engagement of these GHPs in further research on ELSI aspects is important for sustainable implementation.

Clasificación del sujeto de derecho frente al avance de la genómica y la procreática / Subjects of rights classification facing genomic and proteomic development / Classificação do sujeito de direito contra o avanço da genômica e da procriativa

Resumen: El Derecho cataloga la vida humana de acuerdo al estado con el cual se presenta en sociedad con la finalidad de darle una adecuada seguridad. La teoría del sujeto de derecho se sustenta en la conceptualización jurídica de la vida humana. Como teoría, fue creada para reconocer una real y efectiva regulación jurídica a las relaciones que lleve a cabo el hombre en la sociedad, tomando en cuenta que la vida humana tiene numerosas formas de presentarse en sociedad. La vida es una, pero -sea biológica o social- adopta diversos estadios que merecen una regulación acorde con su estatus. Es esta esencia y forma como la vida se presenta en sociedad lo que permite categorizarla jurídicamente y de esto se encarga la teoría del sujeto de derecho. De esta forma se regula la vida humana en su verdadera esencia y dimensión; sin embargo, la biotecnología procreática y genómica vienen alterando su clásica taxonomía, variándolo, al presentar nuevos actores en un mundo de relación.

Abstract: Law categorizes human life according to its situation in society with the goal to provide adequate safety. The theory of the subject of rights is based on the juridical conceptualization of human life. As theory, it was created to recognize a real and effective legal regulation to human relations in society, taking into account that human life has many ways to appear in society. Life is one, but -be biological or social- it adopts diverse stages which deserves regulation according to their status. This essence and way in which life is presented allows its juridical categorization by the subject of rights theory. In this way, human life is regulated in its true essence and dimension; nevertheless, genomic and proteomic biotechnology have being altering their classic taxonomy, changing it when presenting new actors in a world of relations.

Resumo: O Direto cataloga a vida humana de acordo com o estado com a qual se apresenta na sociedade com a finalidade de dá-la um nível adequado de segurança. A teoria do sujeito de direito é baseada no conceito jurídico de vida humana. Como teoria, foi criada para reconhecer uma real e efetiva regulação jurídica das relações realizadas pelo homem na sociedade, tendo em conta que a vida humana tem inúmeras maneiras de se apresentar na sociedade. A vida é uma, embora -seja biológica ou social- adota diferentes fases que merecem uma regulação em conformidade com o seu estatuto. É essa essência e forma como a vida surge na sociedade é o que permite categorizá-la juridicamente e disso se encarga a teoria do sujeito do direito. Assim, regula a vida humana na sua verdadeira essência e dimensão; no entanto, a biotecnología procriativa e genômica vem alterando sua taxonomia clássica, variando-a, introduzindo novos atores em um mundo de relações.