[From HGP-write to « Ultra-safe Cells ¼]. / De HGP-write aux « super-cellules ¼ - Chroniques génomiques.

The HGP-write project, announced in 2016 but not really implemented yet, comes back as a project aimed at constructing an "ultra-safe" human cell line fully resistant to virus infection and with other desirable characteristics. This involves introducing 400,000 changes in the genome and raises a number of technical and financial issues, but may become realistic in mid-term.

HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.

The recommendations for the description of sequence variants from the Human Genome Variation Society (HGVS) were published in 2000. Over the years, the recommendations became widely adopted, especially in human clinical genetics and DNA laboratory reporting. As part of a testing scheme performed by the United Kingdom National External Quality Assessment Scheme (UK NEQAS) for Molecular Genetics, we assessed the current variability in the use and interpretation of the guidelines by diagnostic laboratories based across the globe. Twenty-six participating laboratories gave 21 different descriptions. Six laboratories gave fully compliant HGVS descriptions, 12 laboratories reported the correct variant, although not using the recommended format, whilst eight laboratory reports (31%) were not correct. The results indicate that available tools to check variant descriptions were not used. We conclude that education appears to be the way forward to eliminate the observed variability in data reporting.

[Monshot projects in biology]. / Course à la lune en biologie - chroniques génomiques.

Three recent and very large projects aim to integrate several "omics" approaches in order to promote pro-active medicine and to create a "Wellness industry".

Nursing advocacy in a postgenomic age.

The Human Genome Project will change how health is defined and how disease is prevented, diagnosed, and treated. As the largest group of health care providers in contact with patients, nurses need to be competent in the science of genetics. Beyond this, nurses need to understand the complexities that arise in genomic health care. Ethical, legal, and social issues are integral to the delivery of genomic health care, and nurses must have an astute understanding of such complexities. What it means to know, to reason, and to act in this postgenomic age is explored.

A nursing informatics research agenda for 2008-18: contextual influences and key components.

The context for nursing informatics research has changed significantly since the National Institute of Nursing Research-funded Nursing Informatics Research Agenda was published in 1993 and the Delphi study of nursing informatics research priorities reported a decade ago. The authors focus on 3 specific aspects of context--genomic health care, shifting research paradigms, and social (Web 2.0) technologies--that must be considered in formulating a nursing informatics research agenda. These influences are illustrated using the significant issue of healthcare associated infections (HAI). A nursing informatics research agenda for 2008-18 must expand users of interest to include interdisciplinary researchers; build upon the knowledge gained in nursing concept representation to address genomic and environmental data; guide the reengineering of nursing practice; harness new technologies to empower patients and their caregivers for collaborative knowledge development; develop user-configurable software approaches that support complex data visualization, analysis, and predictive modeling; facilitate the development of middle-range nursing informatics theories; and encourage innovative evaluation methodologies that attend to human-computer interface factors and organizational context.

Human evolution and its relevance for genetic epidemiology.

The invitation to write the prefatory article to this volume of the Annual Review of Genomics and Human Genetics inspired me to collect some thoughts, a few involving ideas that are not new, but perhaps worth resurrecting in light of recent observations made with the data emerging from the Human Genome Diversity Project (HGDP). Data from the many relevant studies based on the HGDP have been made public, as was originally the hope and plan of the project. Here I try to give a short summary of the evolution of modern humans, a unique species in many respects but of special interest to readers of this volume, and a few thoughts on the general rates of evolution that might be relevant to medical genetics and genetic epidemiology. I have made no attempt to give a general bibliography, not even of results from the HGDP, since most authors' conclusions are still unpublished. Citations are limited to very few general concepts and articles discussed in this preface.

Health care policy issues as a result of the genetic revolution: implications for public health.

The genetic revolution has spawned 4 distinct issues of universal importance to health care policy and society: genetic privacy, regulation and standardization of genetic tests, gene patenting, and education. Adequate policy advancements for these 4 areas are lacking. Stringent controls must be placed on individual health records to prevent their misuse. Genetic testing within the clinical setting should undergo thorough evaluation before it is implemented. Regulations are needed to prevent the monopolization of DNA sequences. Society and health care professionals must be educated about the scope of genetic testing because current trends indicate that genetic and molecular assessments are destined to become a routine component of health care.