The annotation of the rice genome is the focus of this project. Genes, functions and other features will be identified in the rice genome and made publicly available through a project web site and database. These data will be valuable in understanding not only rice but also important cereal species. A second focus of this project is to contribute to the finishing of the rice genome as part of the International Rice Genome Sequencing Project. Some full text articles may not yet be available without a charge during the embargo administrative interval.
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Mapping the human genome: Implications for practice
Please report errors in award information by writing to: awardsearch nsf. Search Awards. New York Congresswoman Louise Slaughter reminded nurses about the importance of providing accurate information about the law and its protections to those who are concerned about discrimination based on genetic testing or family history of a genetic disease. The HGP has resulted in development of new technology in the form of genetic testing, whole-genome sequencing, whole-exome sequencing, GWAS, epigenomics, gene expression profiling, and biorepositories.
What are the next steps in genomic research?
With advances in technology, clinicians have more opportunity to test and treat patients with common diseases such as diabetes, cancer, and heart disease, which are affected by many genetic and environmental factors. Genetic testing takes many forms, and a complete discussion is beyond the scope of this article. When receiving lab reports, nurses may begin to see acronyms used for genetic technology such as SNP single nucleotide polymorphism and FISH fluorescence in situ hybridization.
They can occur normally and have no effect on a person's health. SNPs have been used to help predict response to drugs and susceptibility to environmental influences and to track disease genes within families. Research continues to identify the relationship of SNPs to complex health disorders including heart disease, diabetes mellitus, and cancer. FISH provides visualization and mapping of genetic material in a human cell, including specific genes.
It's helpful for understanding chromosomal abnormalities and genetic mutations. Four technological advances that are used in genomics are genome sequencing, GWAS, gene expression profiling, and epigenomics. Newer approaches to DNA sequencing have increased efficiency in production of data, reducing the time and cost of sequencing the human genome.
Diagnosis and treatment can be based on these data. One clinical practice implication for genome sequencing involves treatment for breast cancer.
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Genome sequencing can help clinicians predict how a patient with breast cancer, based on her genotype, will respond to different drugs that may be used to treat the tumor. Gene expression profiling can also promote a personalized approach to breast cancer treatment. The human genome contains over 20, genes; not all are active or expressed at any one time.
Making a determination for breast cancer treatment can be guided by the tumor's gene expression pattern. Much more development of the techniques is needed for gaining accuracy and definitive outcomes in clinical practice. Funded by the NIH, the Clinical Genome Resource ClinGen , has a mission to build an authoritative central resource that defines the clinical relevance of genomic variants for use in precision medicine and research.
Through this central resource, the working group aspires to build a genomic knowledge base to standardize testing and improve patient care. Patients will be the source of data studied, as they are the experts on their own health history and have or can access their genetic test results.
A new role for nurses in the era of genetics and genomics is the advanced genetics nurse. The role of the generalist nurse in genomic care doesn't require additional education or credentialing. Clinical nurses who have ongoing interaction with patients in various settings must be prepared to observe for "red flags" that can help them identify patients or families at risk for a genetic disorder. In addition, because patients and families may have questions about genetics or concerns about their family, the nurse must be prepared to provide accurate information or refer the patient and family to the healthcare provider for a possible consultation with a genetic counselor.
A genetic counselor has education and expertise to advise the patient and family regarding specific genetic disorders and possible genetic testing. Whether at the baccalaureate or graduate education level, nurses have a lot to learn in this era of genomic medicine. This Web-based Genetics Institute WBGI is an week, online asynchronous learning experience with rigorous assignments and online discussions. The course provides many opportunities for nurses to interact with colleagues in various roles and to learn from expert educators and clinicians in genetics and genomics.
Returning to the patients presented at the beginning of this article, could you now explain the genomic implications for their clinical situations? Because Mr. C is of Asian descent, he may have a genotype that predisposed him to excessive bleeding from warfarin. He was treated with a lower dose of warfarin and careful monitoring.
K, a patient of Greek descent, may have the genotype of an ultra-rapid metabolizer of the prodrug codeine to morphine. This rapid metabolism of codeine resulted in high blood levels of morphine leading to sedation and respiratory depression. Your ability to incorporate information about genomic medicine into your nursing practice can yield clinical insights that improve care and outcomes for many patients.
Allele: one of two or more versions of a gene responsible for hereditary variation. Individuals inherit two alleles for each gene, one from each parent. If the alleles are different, the dominant allele will be expressed and the recessive allele's effect will be masked. In order to develop a recessive genetic disorder, an individual must inherit two copies of the mutated allele.
Epigenetics: the study of changes caused by the activation and deactivation of genes without any change in the organism's DNA sequence. Epigenomics: the study of the epigenome, a multitude of chemical compounds and proteins that attach to DNA and direct various actions, such as controlling the production of proteins in particular cells. The technique relies on exposing chromosomes to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome.
Gene: a sequence of DNA occupying a specific location on a chromosome; considered the basic unit of heredity. Genotype: an individual's collection of genes. The term also can refer to the two alleles inherited for a particular gene. Genome-wide association studies GWAS : an approach used in genetics research to associate specific genetic variations with particular diseases.
The method involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a disease. Genome: the entire set of genetic instructions found in a cell.
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In humans, the genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome in the cell's mitochondria. In their entirety, the 23 chromosomes contain approximately 3.
Monogenetic disorders or monogenic inheritance: disorders caused by a mutation in a single gene. The mutation may be present on one or both chromosomes one chromosome inherited from each parent. Examples include sickle cell disease, cystic fibrosis, polycystic kidney disease, and Tay-Sachs disease.
Polymorphism: involves one of two or more variants of a particular DNA sequence. Single nucleotide polymorphism SNP : the most common type of polymorphism; involves variation at a single base pair. Genetic and genomic terms are defined via text and audio versions. Nurses have a professional responsibility to practice based on current knowledge, skills, and attitudes.
In , a genomic survey was administered to nursing leaders attending the American Nurses Association ANA House of Delegates meeting to assess "attitudes, receptivity, confidence, practice and competency of nurses in genomics. They didn't routinely use family history in clinical practice, but were interested in learning more about genomic education.
Seeking to improve genomic competency in practice was the focus of a year-long research project conducted with nurse dyads of a nurse administrator and a nurse educator employed at Magnet hospitals. Nearly 8, nurses participated in the project. The results revealed that nurses had some knowledge and valued genomics, but the researchers identified a "genomic nursing competency deficit affecting all nurses regardless of academic preparation or role.
In January , President Obama announced the Precision Medicine Initiative, a research effort intended to "pioneer a new model of patient-powered research. Using a Precision Medicine approach, healthcare providers consider pharmacogenomics in prescribing medication for a specific patient to avoid the "one size fits all" approach, which can result in adverse drug reactions and treatment failure. Source: The White House. Fact Sheet.
President Obama's Precision Medicine Initiative. News release. January 30, Relevance of genomics to healthcare and nursing practice. J Nurs Scholarsh. Current and emerging technology approaches in genomics. Genetics Home Reference. What is a genome? Human Genome Research Institute. All about the Human Genome Project. National Institutes of Health.
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