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Next-generation sequencing is fuelling a rise in the number of genomic diagnostic tests, which compete with existing interventions for limited health-care budgets. This Perspective presents key approaches and challenges that must be considered by decision-makers assessing the relative cost-effectiveness of new genomic tests.
Including diverse populations in genomic studies has the potential to improve the use of genomic data in the clinic. Here, members of the National Human Genome Research Institute review the benefits of increasing diversity, the challenges to overcome and key recommendations for how to achieve this goal.
The authors provide a comprehensive survey of international legislation and policies guiding the return of whole-genome-sequencing-based genetic testing results to patients or study participants, within the context of both clinical and research settings.
The authors argue that far from driving innovation, patent claims on human genes and genetic diagnostic methods are largely counterproductive. Although possible solutions to the inconsistencies in the current system are proposed, the authors expect patents to die out naturally.
Participant-centred initiatives use social media technologies to allow long-term interactive partnerships to be established between study participants and researchers. These varied initiatives improve research governance and quality and give participants greater knowledge of and control over how their data are used.
Technological advances are driving rapid changes in prenatal screening: for example, the use of genome-wide molecular tests for diagnostic follow-up and the pending introduction of non-invasive testing. These advances raise difficult ethical questions about issues such as meaningful reproductive choice, equity of access and the proportionality of testing.
The generation of transgenic non-human primates provides a potential means to understand the genetic differences that distinguish humans from our nearest evolutionary relatives. However, the same features that make non-human primates good models for such research also raise serious ethical concerns.
Molecular genetic testing is increasingly being used in health care settings. The authors discuss the challenges faced by decision makers when weighing up the health benefits of testing, and its economic costs.
For several years, large funding bodies have made data sharing a requirement of support for all projects. Although such open access policies have benefited the progress of science, it is worth considering how they are affecting scientific practice.
Advances in genomics have implications for how disability is viewed by geneticists and the public alike. Better communication is needed so that the concerns of people with disabilities are taken into account — in terms of clinical applications and the wider societal context.
Despite its potential benefits, opposition to transgenic crops remains strong in influential European countries. This article explores the basis for this opposition and looks at its implications for applying transgenic technology in poorer nations, where it is needed the most.
The authors explore large-scale population genotyping projects in Mexico, India and Thailand to demonstrate that developing countries can harness human genetic variation to benefit their populations — by adopting these resources to improve public health and create knowledge-based economies.
The unprecedented amount of data in biomedical sciences is putting the well-known ethical issues such as privacy, confidentiality and consent for research under pressure. These authors propose that an open-consent framework, as implemented in the Personal Genome Project, might help avoid the constraints that are inherent in the current concepts of genetic privacy.
The application of gene therapy to treat human disorders has made many advances in recent years, although many ethical challenges associated with this type of intervention remain unresolved. This Perspective describes the special challenges posed by research in this field.
As personal genome research advances, investigators and international research bodies must ensure ethical research conduct. The authors discuss three major ethical implications of personal genomics that relate to the participants, their next-of-kin and the data.