MAKING GENETIC TESTING ACCESSIBLE
What is genetic testing?
Genetic testing looks for changes in your DNA. Detections of changes, mutations, can be informative for you or your family. The results may impact the medical care that is appropriate depending upon what genetic disorders are observed. There are many different kinds of genetic tests.
Exome Sequencing looks at the entire genome. Focusing on exons, the coding region of an individual's genes.
Multi-Gene Panel Testing looks for mutations in several genes at once. If an individual is at increased risk of cancer or a syndrome that has more than one gene associated with the condition multi-gene panel testing may also be done. This method of testing does have an increased risk of detecting variants of unknown significance.
Whole Genome Sequencing examines over 90% of the human genome.
Karyotypes are a collection of an individual’s chromosomes.Karyotyping is a means of looking at an individual’s chromosomes to detect chromosomal abnormalities via counting the number of chromosomes presenting and looking for structural changes.
Who needs genetic testing?
There are three stages of life at which genetic testing is used.
1) Prenatal testing which is done to test a fetus before an individual gives birth. Genetic disease or a predisposition to disease can be found within gametes, a matured sex or reproductive cell (sperm or egg) or may develop in an embryo during maturation.
2) Neonatal testing is done for a newborn at birth via state-mandated newborn screening. A small blood sample is collected from a newborn and sent to a laboratory for testing. Newborn screening provides early information regarding metabolic diseases which if untreated can lead to neuronal death. In instances of positive testing for genetic disorders screening allows for early intervention that can reduce disease severity or prevention.
3) Adult genetic testing can be done at any point as a means of testing an individual for disease or illness or as part of reproductive planning
Genetic testing in adults is advised if they are experiencing symptoms or if there is a known family history of disease.
This Mayo Clinic page provides additional information regarding why certain people get different genetic tests done.
What do you find out from genetic testing?
Genetic testing assesses an individuals genes for risk factors of genetic conditions and can provide insight into a variety of diseases including
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- Cancer
- Sickle Cell Disease
_ Parkinson's Disease
- Alzheimer's
- Macular Degeneration
- Many more
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It is important to note that for many diseases genetic testing is only an indicator of increased risk.
