Genetics and Genomics

KEY POINTS

GENETICS
Genetics is the study of genes and their role in inheritance. Genetics determines
the way that certain traits or conditions are passed down from one generation to another.
Genomics is the study of all of a persons genes (the genome), including
interactions of these genes with each other and with the persons environment.
Genomics includes the study of complex diseases (e.g., heart disease,
asthma, diabetes mellitus, cancer), because these diseases are typically caused by
a combination of genetic and environmental factors rather than by a single gene.

GENETIC MUTATIONS
A mutation is any change in the usual DNA sequence. A genetic mutation is like a
spelling error in a genes sequence.
Gene mutations occur in two ways. They can be inherited from a parent (germline
mutation) or acquired (somatic mutation) during a persons lifetime.
Germline mutations are passed from parent to child.
Acquired (somatic) mutations occur in the DNA of a cell at some time
during a persons life. An acquired mutation is passed on to all cells that develop
from that single cell.

INHERITANCE PATTERNS
Genetic disorders can be categorized into autosomal dominant, autosomal
recessive, or sex-linked (X-linked) recessive disorders.
Autosomal dominant disorders are caused by a mutation of a single gene
pair (heterozygous) on a chromosome.
Autosomal recessive disorders are caused by a mutation in two gene pairs
(homozygous) on a chromosome.
X-linked recessive disorders are caused by a mutation on the X
chromosome.

GENETIC DISORDERS
Genetic disorders can be inherited (person born with altered genetic code) or they
can be acquired (e.g., replication errors, damage to DNA from toxins).
Genetic disorders can be caused by
a mutation in a single gene.
mutations in multiple genes (multifactorial inheritance disorder), which
are often related to environmental factors.
damage to chromosomes (changes in the number or structure of entire
chromosomes).

GENETIC TESTING
 Genetic testing includes any procedure done to analyze chromosomes or genes
that can determine if a mutation or predisposition to a condition exists.
Genetic testing of individuals may lead to both ethical and social issues. People
making decisions about genetic testing should be aware that, when test results are placed
in their medical records, the results may not be kept private.
If an individual is tested, it may uncover information that may also affect a family
member who was not tested.

Interpreting Genetic Test Results

The results of genetic tests are not always straightforward, which often makes
them challenging to interpret and explain.
A positive test result means that the laboratory found a change in a
particular gene, chromosome, or protein that was being tested.
This result may confirm a diagnosis (e.g., Huntingtons disease),
indicate that a person is a carrier of a particular genetic mutation (e.g.,
cystic fibrosis), identify an increased risk of developing a disease (e.g.,
breast cancer), or suggest a need for further testing.
A positive result of a predictive or presymptomatic genetic test
usually cannot establish the absolute risk of developing a disorder. In
addition, a positive test cannot predict the course or severity of a
condition.
A negative test result means that the laboratory did not find an altered form of the
gene, chromosome, or protein under consideration.
This result can indicate that a person is not affected by a particular
disorder, is not a carrier of a specific genetic mutation, or does not have an
increased risk of developing a certain disease.
However, it is possible that the test missed a disease-causing genetic
alteration, because many tests cannot detect all the genetic changes that cause a
particular disorder.

Technology Used for Genetic Testing

DNA fingerprinting begins by extracting DNA from the cells in a sample of blood,
saliva, semen, or other appropriate fluid or tissue. Polymerase chain reaction (PCR) is a
quick, easy method to provide unlimited copies of a DNA or RNA sequence using only a
small amount of sample.
DNA microarray (DNA chip) allows the study of genes that are active and that are
inactive in different cell types. This helps to understand (1) how these cells function
normally and (2) how they are affected when various genes do not perform properly.

Genome-Wide Association Study (GWAS)

Genome-wide association study (GWAS) is an approach that involves rapidly
scanning complete sets of DNA, or genomes, of many individuals to find genetic
variations associated with the development or progression of a particular disease.
 GWAS is particularly useful in finding genetic variations that contribute to
multifactorial inherited disorders such as asthma, cancer, diabetes, and heart disease.

PHARMACOGENOMICS AND PHARMACOGENETICS

Pharmacogenomics is the study of genetic variability of drug responses due to
variation in multiple genes.
Pharmacogenetics is the study of genetic variability of drug responses due to
variation in single genes.
Pharmacogenetic and pharmacogenomic studies can potentially lead to drugs that
can be tailor-made for individuals and adapted to each persons particular genetic
makeup.

GENE THERAPY
Gene therapy is an experimental technique that uses genes to treat or prevent
disease.
Although gene therapy is a promising treatment option for a number of diseases
(e.g., inherited disorders, some types of cancer), the technique remains risky and is still
being studied to make sure that it will be safe and effective.

STEM CELLS
Stem cells are cells in the body that have the ability to differentiate into other
cells. Stem cells can be divided into two types: embryonic and adult.
Stem cells are the subject of much discussion because they may allow for the
regeneration of lost tissue and restoration of function in a variety of chronic diseases,
such as diabetes, heart disease, Alzheimers disease, rheumatoid arthritis, stroke, spinal
cord injury, and burns.

NURSING MANAGEMENT: GENETICS AND GENOMICS

By understanding the profound influence that genetics has on health and illness,
you can assist the patient and family in making critical decisions related to genetic issues,
such as genetic testing.
You also need to collaborate with the health care team to involve a genetic
counselor.
You should be able to give patients and their families accurate information
pertaining to genetics, genetic diseases, genetic risks, and probabilities of genetic
disorders.
Maintain the patients confidentiality and respect the patients values and beliefs
because genetic information may have major health and social implications.
Genetic testing may raise many psychologic and emotional issues. Knowledge of
carrier status of a genetic disorder may influence a persons career plans and decisions for
marriage and childbearing.
Ethical questions include: Who should know the results of a genetic test? Who
should protect the privacy of individuals test results and prevent individuals from
 possible discrimination?

Nursing Assessment: Family History

Family history is one of the strongest influences on a persons risk of developing
genetic-related disorders such heart disease, stroke, diabetes, or cancer.
Knowing the family history can help in the early diagnosis and treatment of a
disorder. For example, it is important to monitor cholesterol levels in a person with a
family history of familial hypercholesterolemia.
The family history may hold important clues about a persons risk for a genetic
disease. People with a family history of disease may have the most to gain from lifestyle
changes and screening tests.
People cannot change their genes, but they can change unhealthy behaviors (e.g.,
smoking, poor eating habits). They can also get screening tests to detect diseases and
disease risk factors (e.g., elevated cholesterol, hypertension) that can be treated.