Chapter 3 Nursing and Genomics
Genetics/Genomics definition
• Definitions
o Genetics: the study of heredity and its variations, is a field that has applications to all
stages of life and all types of diseases.
o Heredity: process of transmitting types of disease
o Genomics: the study of the structure, function, evolution, and mapping of genomes.
o Genes: Distinct sequence of nucleotide forming part of a chromosome. This unit of
heredity is transferred from a parent to all offspring.
o Genome: The complete set of genes or genetic material that make up pa living organism.
Haploid set of chromosomes in a gamete or microorganism, or in a cell of a multicellular
organism.
o Epigenetics: The study of changes in organism by the modification or manipulation of
gene expression instead of altering the genetic code.
o Genomic medicine: Applies genetics and genomics to diagnose and treat disease.
o Precision medicine: Medical treatment designed to maximize therapeutic benefit for a
certain group of patients by using genetic or molecular profiling. I t considers persons
genome, environment, and lifestyle.
• Increased interest in:
o Personalized genomic information
o Direct-to-consumer genetic testing
Nursing Expertise in Genetics and Genomics
• Essential competencies for all nurses
o All nurses need to have minimal competencies in genetics and genomics regardless of
their academic preparation, practice setting, or specialty
• Expanded roles for maternity and women’s health nurses.
• Roles for Nurses in Genetics: Gathering family history, providing information about genetic testing,
duration and risks, and providing emotional or psychological support.
Human Genome Project
• Overview
o Initiated in 1990
o Key finding: all human beings are 99.9% identical at the DNA level
o ENCODE Project (2003): organized to identify the genome's functional elements. Also
known as the Encyclopedia of DNA Elements. Started to help identify and analyze the
complete set of functional elements in the human genome sequence.
• Importance of family history
o Completion of the Human Genome Project has resulted in renewed interest in family
history
o Single most cost-effective piece of genetic information
o U.S. Department of Health and Human Services has designated Thanksgiving as “National
Family History Day”
o Many family history tools are available online
• Gene identification and testing
o Valuable resource: Genetic Testing Registry (GTR): www.ncbi.nlm.nih.gov/gtr
, o Many kinds of genetic testing
o Rapid development of prenatal testing options
• Gene identification and testing
o Predictive testing
▪ Pre-symptomatic testing
▪ Pre-dispositional testing
• Population-based screening: Newborn Screening, Carrier screening for single-gene disorders,
Cystic fibrosis, Sickle cell disease , Tay-Sachs disease, Expanded Carrier screening now encouraged
Pharmacogenomics: Using genetic information to guide a client’s drug therapy
• Gene therapy
• An experimental technique that uses genes to treat or prevent disease
• Inserting a healthy copy of the defective gene into somatic cells of the affected individual
-Genetic testing
-Genetic Transmission
• Human development is a complicated process; it depends on systematically unraveling
genetic material.
• Development from conception to birth usually occurs without incident.
• Every year, 8 million children worldwide (6% total births) are born with a serious birth
defect
Unifactorial – being a mode of inheritance dependent on genes at a single genetic locus.
Multifactorial – (inheritance) is the type of hereditary pattern seen when there is more than one
genetic factor involved including environmental factors participating in cause of condition.
• Ethical, legal, and social implications (ELSIs)
o Privacy and fairness in use and interpretation of genetic information
o Clinical integration of new genetics technologies
o Ethical Issues including the process of informed consent
o Education for professionals and general public about genetics and the complex issues
that result from genomic research
• Factors influencing decision to undergo genetic testing
o Decision often based on feelings of responsibility and commitment to others
o Cultural and ethnic differences
o Raises fundamental questions about the mutual obligations of kin
Clinical Genetics- Genetic transmission
Genetics/Genomics definition
• Definitions
o Genetics: the study of heredity and its variations, is a field that has applications to all
stages of life and all types of diseases.
o Heredity: process of transmitting types of disease
o Genomics: the study of the structure, function, evolution, and mapping of genomes.
o Genes: Distinct sequence of nucleotide forming part of a chromosome. This unit of
heredity is transferred from a parent to all offspring.
o Genome: The complete set of genes or genetic material that make up pa living organism.
Haploid set of chromosomes in a gamete or microorganism, or in a cell of a multicellular
organism.
o Epigenetics: The study of changes in organism by the modification or manipulation of
gene expression instead of altering the genetic code.
o Genomic medicine: Applies genetics and genomics to diagnose and treat disease.
o Precision medicine: Medical treatment designed to maximize therapeutic benefit for a
certain group of patients by using genetic or molecular profiling. I t considers persons
genome, environment, and lifestyle.
• Increased interest in:
o Personalized genomic information
o Direct-to-consumer genetic testing
Nursing Expertise in Genetics and Genomics
• Essential competencies for all nurses
o All nurses need to have minimal competencies in genetics and genomics regardless of
their academic preparation, practice setting, or specialty
• Expanded roles for maternity and women’s health nurses.
• Roles for Nurses in Genetics: Gathering family history, providing information about genetic testing,
duration and risks, and providing emotional or psychological support.
Human Genome Project
• Overview
o Initiated in 1990
o Key finding: all human beings are 99.9% identical at the DNA level
o ENCODE Project (2003): organized to identify the genome's functional elements. Also
known as the Encyclopedia of DNA Elements. Started to help identify and analyze the
complete set of functional elements in the human genome sequence.
• Importance of family history
o Completion of the Human Genome Project has resulted in renewed interest in family
history
o Single most cost-effective piece of genetic information
o U.S. Department of Health and Human Services has designated Thanksgiving as “National
Family History Day”
o Many family history tools are available online
• Gene identification and testing
o Valuable resource: Genetic Testing Registry (GTR): www.ncbi.nlm.nih.gov/gtr
, o Many kinds of genetic testing
o Rapid development of prenatal testing options
• Gene identification and testing
o Predictive testing
▪ Pre-symptomatic testing
▪ Pre-dispositional testing
• Population-based screening: Newborn Screening, Carrier screening for single-gene disorders,
Cystic fibrosis, Sickle cell disease , Tay-Sachs disease, Expanded Carrier screening now encouraged
Pharmacogenomics: Using genetic information to guide a client’s drug therapy
• Gene therapy
• An experimental technique that uses genes to treat or prevent disease
• Inserting a healthy copy of the defective gene into somatic cells of the affected individual
-Genetic testing
-Genetic Transmission
• Human development is a complicated process; it depends on systematically unraveling
genetic material.
• Development from conception to birth usually occurs without incident.
• Every year, 8 million children worldwide (6% total births) are born with a serious birth
defect
Unifactorial – being a mode of inheritance dependent on genes at a single genetic locus.
Multifactorial – (inheritance) is the type of hereditary pattern seen when there is more than one
genetic factor involved including environmental factors participating in cause of condition.
• Ethical, legal, and social implications (ELSIs)
o Privacy and fairness in use and interpretation of genetic information
o Clinical integration of new genetics technologies
o Ethical Issues including the process of informed consent
o Education for professionals and general public about genetics and the complex issues
that result from genomic research
• Factors influencing decision to undergo genetic testing
o Decision often based on feelings of responsibility and commitment to others
o Cultural and ethnic differences
o Raises fundamental questions about the mutual obligations of kin
Clinical Genetics- Genetic transmission
