Genetics and genomics are two terms that are often incorrectly used
interchangeably. Genetics is the study of single genes and their role in the
way traits or conditions are passed from one generation to the next. Genomics
is a term that describes the study of all parts of an organism’s genes.
Genetics is a scientific study of the effects that genes — which
are units of heredity — have on an individual. Genes hold information in
the molecule DNA, which is a string of chemicals called bases. The order, or
sequence, of bases on the string determines the meaning of a genetic message.
The message contains instructions for making proteins, which, in turn, direct
cells and functions of the body. Humans have thousands of genes that are
packaged into 23 pairs of chromosomes.
All of the genes of an organism taken together, plus all of the
sequences and information contained therein, are called the genome. The human
genome consists of all of the thousands of genes and the 23 chromosome pairs.
Genomics includes study of how the genes within the genome interact with each
other and with the individual’s environment.
Researchers may conduct genetic or genomic tests. Genetic testing is
when the researchers investigate a single piece of genetic information for
specific bits of DNA with a known function. By investigating a single known
entity, scientists may isolate the underlying causes of the specific genetic
variant in question. Genomic testing is broader, with no target. Genomic
testing involves investigating large sections of genetic material and
information, from which broad or specific conclusions may be drawn.
Some examples of genetic or inherited disorders include cystic fibrosis,
Down syndrome, hemophilia, Huntington’s disease, phenylketonuria (PKU) and
Some disorders and complex diseases that have been studied in the field
of genomics include asthma, cancer, diabetes and heart disease. These diseases
are caused by a combination of genetic and environmental factors, rather than
simply a single genetic defect. The study of genomics has provided the medical
community with new diagnostic tools and therapies for these complex diseases.
Technology and techniques
Technology and techniques used in genetics and genomics include:
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- Proteomics, used in genomics, the large-scale analysis of all of the proteins in an organism, cell or type of tissue.
- Pharmacogenetics and pharmacogenomics, studies that combine pharmacology with analyzing genetic variables in how individuals respond to certain drugs. While pharmacogenetics deals with different medication responses caused by variation in a single gene, pharmacogenomics involves multiple genes.
- Stem cell therapy, using unspecialized cells with the ability to develop into specialized body cells. In addition, stem cells can remain in their unspecialized state and make copies of themselves.
- Cloning, a practice that can refer to genes, cells or entire organisms.