scholarly journals Genetics in the 21st Century: Implications for patients, consumers and citizens

F1000Research ◽  
2018 ◽  
Vol 6 ◽  
pp. 2020 ◽  
Author(s):  
Jonathan Roberts ◽  
Anna Middleton

The first human genome project, completed in 2003, uncovered the genetic building blocks of humankind. Painstakingly cataloguing the basic constituents of our DNA (‘genome sequencing’) took ten years, over three billion dollars and was a multinational collaboration. Since then, our ability to sequence genomes has been finessed so much that by 2018 it is possible to explore the 20,000 or so human genes for under £1000, in a matter of days. Such testing offers clues to our past, present and future health, as well as information about how we respond to medications so that truly ‘personalised medicine’ is now moving closer to a reality.The impact of such a ‘genomic era’ is likely to have some level of impact on an increasingly large number of us, even if we are not directly using healthcare services ourselves. We explore how advancements in genetics are likely to be experienced by people, as patients, consumers and citizens; and urge policy makers to take stock of the pervasive nature of the technology as well as the human response to it.

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 2020 ◽  
Author(s):  
Jonathan Roberts ◽  
Anna Middleton

The first human genome project, completed in 2003, uncovered the genetic building blocks of humankind. Painstakingly cataloguing the basic constituents of our DNA (‘genome sequencing’) took ten years, over three billion dollars and was a multinational collaboration. Since then, our ability to sequence genomes has been finessed so much that by 2017 it is possible to explore the 20,000 or so human genes for under £1000, in a matter of days. Such testing offers clues to our past, present and future health, as well as information about how we respond to medications so that truly ‘personalised medicine’ is now a reality.   The impact of such a ‘genomic era’ is likely to have some level of impact on all of us, even if we are not directly using healthcare services ourselves. We explore how advancements in genetics are likely to be experienced by people, as patients, consumers and citizens; and urge policy makers to take stock of the pervasive nature of the technology as well as the human response to it.


Genes ◽  
2014 ◽  
Vol 5 (3) ◽  
pp. 518-535 ◽  
Author(s):  
Jessica Bailey ◽  
Margaret Pericak-Vance ◽  
Jonathan Haines

Author(s):  
Riccardo Spinelli ◽  
Clara Benevolo

In this chapter, the authors analyze the impact of the new ICT-driven economic paradigm—the digital economy—on healthcare services. The increasing adoption of ICT in healthcare has been very fruitful and has led to the innovative approach to healthcare practice commonly known as e-health. Here the authors first propose a framework, consisting of six elements, whose mutual interaction outlines the structure and the dynamics of the digital economy. Then, a classification scheme of services is presented, which considers their characteristics and their delivery modes; this scheme supports understanding the way in which the adoption of ICT impacts healthcare services. Finally, an overall explanatory outline is constructed that allows one to analyze and understand the origins, implications, and future perspectives of the changes that ICT has brought to healthcare services. Examples of e-health applications are traced back to the building blocks of the framework, isolating the impact of each driver on their structure, configuration, and delivery modes.


Author(s):  
Sudheer Menon

This paper reviews up to date Bioinformatics Approaches to Understand Gene Looping in the Human Genome. Bioinformatics is used to study the sequences of biological molecules. It generally points out to genes, DNA, RNA, or protein, and is especially functional in analogizing genes and other protein sequences. You can believe in bioinformatics. Basically, the linguistics Bioinformatics uses computer programs for various applications, involving deliberate gene and protein functions. The beginning of the human genome project in 1990 and was completed in 2003. The Human Genome Project gave a prime improvement for the progress of bioinformatics. The (HGP) was organized by the National Institutes of Health and the U.S. Department of Energy. Without the interpretation given via bioinformatics, the information obtained from the HGP is not very functional. This page describes HGP bioinformatics research. Informatics is the formation, exploration, and function of databases. Main aim was to find the total set of human genes and make them available for more biological study and discover the total sequence of DNA bases in the human genome. A total and the correct sequence of the 3 billion DNA base pairs create the human genome and search all approximate 20,000 to 25,000 human genes. The genomes sequence of organisms that are main to medical research. To begin new tools to apply and inspect the data and to assemble this information broadly obtainable. DNA sequencing manufactures a sequence that is particularly a hundred bases long. Gene sequences manufacture thousands of bases. To study genes, small intersecting sequences set up long DNA sequences. Loops can clump associated genes into separate transcriptional axis chromatin from neighboring domains. Gene loops in yeast juxtapose promoter-terminator regions. Here we outline gene loops’ finding, the looping need proteins, and transcription by RNA polymerase II is by gen looping


1996 ◽  
Vol 13 (2) ◽  
pp. 63-95 ◽  
Author(s):  
Eric T. Juengst

On October 1, 1988, thirty-five years after co-discovering the structure of the DNA molecule, Dr. James Watson launched an unprecedented experiment in American science policy. In response to a reporter's question at a press conference, he unilaterally set aside 3 to 5 percent of the budget of the newly launched Human Genome Project to support studies of the ethical, legal, and social implications of new advances in human genetics. The Human Genome Project (HGP), by providing geneticists with the molecular maps of the human chromosomes that they use to identify specific human genes, will speed the proliferation of a class of DNA-based diagnostic and risk-assessment tests that already create professional ethical and health-policy challenges for clinicians. “The problems are with us now, independent of the genome program, but they will be associated with it,” Watson said. “We should devote real money to discussing these issues.” By 1994, the “ELSI program” (short for “Ethical, Legal, and Social Implications”) had spent almost $20 million in pursuit of its mission, and gained both praise and criticism for its accomplishments.


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