Genetic Testing and Interpretation
Expert-defined terms from the Professional Certificate in Psychopharmacology and Genetics course at London School of Planning and Management. Free to read, free to share, paired with a globally recognised certification pathway.
**A** #
**A**
Allele #
A variant form of a gene. An individual inherits two alleles for each gene, one from each parent.
Autosomal #
Refers to any chromosome that is not a sex chromosome (X or Y). Autosomal genetic disorders affect both males and females.
**C** #
**C**
CAG Repeats #
A sequence of three DNA nucleotides (cytosine, adenine, guanine) that, when repeated a certain number of times, can indicate a genetic disorder. An increased number of repeats can lead to an earlier age of onset and more severe symptoms.
Chromosome #
A thread-like structure of DNA and protein that contains genetic information. Humans have 23 pairs of chromosomes, for a total of 46.
**D** #
**D**
Deletion #
A genetic mutation that results in the loss of a segment of DNA.
Diagnosis #
The identification of a disease or disorder through examination and testing. Genetic testing can aid in the diagnosis of certain disorders.
**G** #
**G**
Gene #
A section of DNA that contains the instructions for making a specific protein.
Genetic Counseling #
The process of providing information and support to individuals and families who are at risk for or have a genetic disorder.
Genetic Disorder #
A condition caused by a mutation or alteration in a person's DNA.
Genetic Testing #
The process of examining an individual's DNA to identify genetic changes or mutations that may indicate a risk for a genetic disorder.
**H** #
**H**
Haplotype #
A set of DNA variations that are closely linked and inherited together.
**I** #
**I**
Insertion #
A genetic mutation that results in the addition of a segment of DNA.
Interpretation #
The process of analyzing and understanding the results of a genetic test.
**L** #
**L**
Linkage Analysis #
A genetic testing method used to identify the location of a gene that causes a specific disorder by examining the inheritance pattern of markers on different chromosomes.
**M** #
**M**
Markers #
Specific locations on a chromosome that can be used to identify a particular gene or genetic variation.
Mutation #
A change in the DNA sequence that can lead to a genetic disorder.
**P** #
**P**
Penetrance #
The proportion of individuals with a particular genetic mutation who will develop the associated disorder.
Pharmacogenetics #
The study of how genetic variations affect an individual's response to drugs.
Polygenic Disorder #
A disorder caused by the combined effects of multiple genes, rather than a single gene.
Polymorphism #
A common genetic variation that occurs in more than 1% of the population.
**R** #
**R**
Risk Assessment #
The process of evaluating an individual's risk for developing a genetic disorder based on their family history and genetic test results.
**S** #
**S**
Single Nucleotide Polymorphism (SNP) #
A type of genetic variation that involves the substitution of a single DNA nucleotide.
Single Gene Disorder #
A disorder caused by a mutation in a single gene.
**V** #
**V**
Variation #
A difference in the DNA sequence between individuals.
**X** #
**X**
X #
linked Disorder: A disorder caused by a mutation on the X chromosome. These disorders are typically more severe in males, who have only one X chromosome, than in females, who have two X chromosomes.
**Y** #
**Y**
Y #
linked Disorder: A disorder caused by a mutation on the Y chromosome. These disorders are typically only found in males, who have one Y chromosome.
Genetic testing and interpretation play a crucial role in the field of psychopha… #
By understanding the concepts and terms outlined in this glossary, professionals in the field can better utilize genetic testing to inform their treatment decisions and improve patient outcomes.
For example, genetic testing can be used to identify specific variations in an i… #
This information can then be used to tailor the treatment plan to the individual's unique genetic makeup, increasing the likelihood of a successful outcome. Additionally, genetic testing can aid in the diagnosis of certain disorders, allowing for earlier intervention and more effective treatment.
However, it is important to note that the interpretation of genetic test results… #
Genetic counseling can provide individuals and families with the information and support they need to understand their test results and make informed decisions about their healthcare.
In summary, genetic testing and interpretation are essential tools in the field… #
By understanding the concepts and terms outlined in this glossary, professionals can effectively utilize genetic testing to improve patient outcomes.