scholarly journals Genomic Medicine

2016 ◽  
Vol 23 (1) ◽  
pp. 21
Author(s):  
Kremema Star ◽  
Barbara Birshtein
Keyword(s):  
Human Genome ◽  
Human Disease ◽  
Human Genome Project ◽  
Large Scale ◽  
New Technologies ◽  
Genomic Medicine ◽  
Genetic Material ◽  
Genome Project ◽  
The Human Genome Project

The human genome project created the field of genomics – understanding genetic material on a large scale. Scientists are deciphering the information held within the sequence of our genome. By building upon this knowledge, physicians and scientists will create fundamental new technologies to understand the contribution of genetics to diagnosis, prognosis, monitoring, and treatment of human disease. The science of genomic medicine has only begun to affect our understanding of health.

scholarly journals The Human Genome Project: Lessons from Large-Scale Biology

Science ◽  
2003 ◽  
Vol 300 (5617) ◽  
pp. 286-290 ◽  
Author(s):  
F. S. Collins
Keyword(s):  
Human Genome ◽  
Human Genome Project ◽  
Large Scale ◽  
Genome Project ◽  
The Human Genome Project

The Genetic Privacy Act: An Analysis of Privacy and Research Concerns

1997 ◽  
Vol 25 (4) ◽  
pp. 256-272 ◽  
Author(s):  
Edwin S. Flores Troy
Keyword(s):  
Human Genome ◽  
Health Care Professionals ◽  
Human Genome Project ◽  
Genetic Information ◽  
Medical Information ◽  
Genetic Material ◽  
Genome Project ◽  
Genetic Privacy ◽  
Privacy Act ◽  
The Human Genome Project

In the last few years, a great deal of attention has been paid to the effects that the achievements of the Human Genome Project will have on the confidentiality of medical information. The Genetic Privacy Act (GPA) is an attempt to address the privacy, confidentiality, and property rights relating to obtaining, requesting, using, storing, and disposing of genetic material. The GPA grew out of concerns over the vast amount of genetic information that is a product of the Human Genome Project. The central goals of the GPA are twofold: (1) to define an individual's right to control access to their genetic material and the privilege to control the information derived therefrom; and (2) to prevent potential and actual abuse of genetic information by third parties, such as insurance companies, employers, and government. The GPA is one of a group of proposals that seek to control the flow of medical information from the individual to health care professionals and to other persons.

Gene trap strategies in ES cells

1999 ◽  
Author(s):  
Wolfgang Wurst ◽  
Achim Gossler
Keyword(s):  
Human Genome ◽  
Reporter Gene ◽  
Human Genome Project ◽  
Large Scale ◽  
Es Cells ◽  
Gene Trap ◽  
Genome Project ◽  
Endogenous Gene ◽  
The Human Genome Project

Gene trap (GT) strategies in mouse embryonic stem (ES) cells are increasingly being used for detecting patterns of gene expression (1-4, isolating and mutating endogenous genes (5-7), and identifying targets of signalling molecules and transcription factors (3, 8-10). The general term gene trap refers to the random integration of a reporter gene construct (called entrapment vector) (11, 12) into the genome such that ‘productive’ integration events bring the reporter gene under the transcriptional regulation of an endogenous gene. In some cases this also simultaneously generates an insertional mutation. Entrapment vectors were originally developed in bacteria (13), and applied in Drosophila to identify novel developmental genes and/or regulatory sequences (14-17). Subsequently, a modified strategy was developed for mouse in which the reporter gene mRNA becomes fused to an endogenous transcript. Such ‘gene trap’ vectors were initially used primarily as a tool to discover genes involved in development (1, 2,18). In the last five years there has been a significant shift of GT approaches in mouse to much broader, large scale applications in the context of the analysis of mammalian genomes and ‘functional genomics’. Sequencing and physical mapping of both the human and mouse genomes is expected to be completed within the next five years. Already, a large number of mouse and human genes have been identified as expressed sequence tags (ESTs), and very likely the majority of genes will be discovered as ESTs shortly. This vast sequence information contrasts with a rather limited understanding of the in vivo functions of these genes. Whereas DNA sequence can provide some indication of the potential functions of these genes and their products, their physiological roles in the organism have to be determined by mutational analysis. Thus, the sequencing effort of the human genome project has to be complemented by efficient functional analyses of the identified genes. One potentially powerful complementation to the efforts of the human genome project would be a strategy whereby large scale random mutagenesis in mouse is combined with the rapid identification of the mutated genes (6,7,19, and German gene trap consortium, W. W. unpublished data).

Orphan Tests

1996 ◽  
Vol 5 (2) ◽  
pp. 300-306 ◽  
Author(s):  
Leslie G. Biesecker
Keyword(s):  
Technology Transfer ◽  
Human Genome ◽  
Rare Diseases ◽  
Human Disease ◽  
Human Genome Project ◽  
Positional Cloning ◽  
Genetic Diseases ◽  
Genome Project ◽  
Disease Genes ◽  
The Human Genome Project

An urgent need for standards and guidelines on genetic testing has arisen because of swift advances in research, facilitated by the Human Genome Project. The goals of the Human Genome Project include the identification of all genes and sequencing of the human genome. The project is currently ahead of schedule and under budget. We can expect an avalanche of genetic information, much of which will be relevant to human disease. In addition to the Human Genome Project, investigator-initiated research projects and commercial biotechnology laboratories are discovering human disease genes at a breathtaking pace. Technology transfer has been rapid and has led to the availability of numerous clinical tests within only a few years since the first disease gene yielded to the technique of positional cloning. Disease genes are selected for study for a number of reasons. Genes for rare diseases may be studied before more common disorders because they elucidate an important area of pathogenesis. Unfortunately, technology transfer to the clinic for rare tests is hindered by several factors. Standards need to be established to assure that genetic tests for rare diseases are not ignored or mismanaged in the rush to commercialize tests for more common human genetic diseases.

scholarly journals What motivates the sharing of consumer-generated genomic information?

2020 ◽  
Vol 8 ◽  
pp. 205031212091540 ◽  
Author(s):  
Rachele M Hendricks-Sturrup ◽  
Christine Y Lu
Keyword(s):  
Genetic Testing ◽  
Human Genome ◽  
Human Genome Project ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Genome Project ◽  
Genomic Information ◽  
Financial Return ◽  
Direct To Consumer ◽  
The Human Genome Project

Genomic medicine is an emerging practice that followed the completion of the Human Genome Project and that considers genomic information about an individual in the provision of their clinical care. Large and start-up direct-to-consumer genetic testing companies like Ancestry, 23andMe, Luna DNA, and Nebula Genomics have capitalized on findings from the Human Genome Project by offering genetic health testing services to consumers without a clinical intermediary. Genomic medicine is thus further propelled by unprecedented supply and demand market forces driven by direct-to-consumer genetic testing companies. As government entities like the National Human Genome Research Institute question how genomics can be implemented into routine medical practice to prevent disease and improve the health of all members of a diverse community, we believe that stakeholders must first examine how and scenarios in which stakeholders can become motivated to share or receive genomic information. In this commentary, we discuss consumers three scenarios: satisfying personal curiosity, providing a social good, and receiving a financial return. We examine these motivations based on recent events and current avenues through which have engaged or can engage in genomic data sharing via private, secure (e.g. centralized genomic databases and de-centralized platforms like blockchain) and public, unsecure platforms (e.g. open platforms that are publicly available online). By examining these scenarios, we can likely determine how various stakeholders, such as consumers, might prefer to extract value from genomic information and how privacy preferences among those stakeholders might vary depending on how they seek to use or share genomic information. From there, one can recommend best practices to promote transparency and uphold privacy standards and expectations among stakeholders engaged in genomic medicine.

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