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The Different Types of Genetic Tests

 The Different Types of Genetic Tests

Some say that the human genome is the only data set in healthcare that does not change, and that helps explain the recent popularity of genetic testing with more than 77,000 genetic tests currently in use and an average of 10 new tests entering the market daily.

“The human genome was mapped only fifteen years ago, but since then the adoption of genetic testing has skyrocketed. Much of this trend is explained by the critical role genetic testing plays in precision medicine (an approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle) as well as by advances in next-generation sequencing methods and concurrent reductions in sequencing costs,” wrote four healthcare professionals in a Health Affairs research article.

Discoveries in Genetics have Revolutionized Medical Science

The American Journal of Managed Care says that from a broader perspective, Genetic testing can potentially lead to improvements in population health and health equity and cut down on healthcare costs. The theory is that when specific populations are identified as being at greater risk of disease, targeted treatments will lead to better response rates and less healthcare waste.

“Discoveries in genetics have revolutionized medical science. With each new advance, the excitement around genetics and genomics testing continues to build,” wrote clinical service physician Ian Z. Chuang.

Once known for its use in paternity tests, prenatal testing, forensic evidence and genealogy usage, genetic testing is now used in everything from breast and ovarian cancer to age-related macular degeneration (AMD) to bipolar disorder to Parkinson’s disease to celiac disease to psoriasis.

“If the developments in genetics and computer technologies continue to progress at their current speed, history has shown us we can look forward to some amazing developments in human life in the very near future,” a research paper published in BioMed Research International concluded.

The History and Definition of Genetic Testing

DNAfit says that genetic science can trace its roots back to the 1860s and plant hereditary traits experiments by Gregor Mendel with the term “genetics” first used in 1905 by English biologist William Bateson.

Even though genetics as a theory was widely accepted by 1925, it wasn’t until the 1950s that the field opened after the discovery and study of DNA. In the last decade, genetic testing has gone mainstream, first with at-home ancestry DNA testing and then with the role molecular tests played during the COVID-19 pandemic.

The National Library of Medicine (NLM) says that genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins.

“The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder,” explained the NLM.

The NLM says genetic testing specifically involves looking for changes in:

  • Genes: Gene tests study DNA sequences to identify variations (mutations) in genes that can cause or increase the risk of a genetic disorder. Gene tests can be narrow or large in scope, analyzing an individual DNA building block (nucleotide), one or more genes, or all a person’s DNA (which is known as their genome). 

  • Chromosomes: Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

  • Proteins: Biochemical genetic tests study the amount or activity level of proteins or enzymes; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.

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