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.
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.
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:
“Many types of genetic tests are available to analyze changes in genes, chromosomes, or proteins. A health care provider will consider several factors when selecting the appropriate test, including what condition or conditions are suspected and the genetic variations typically associated with those conditions,” says the NLM.
The NLM breaks down the types of genetic tests available under four categories:
o Targeted single variant: Single variant tests look for a specific variant in one gene. The selected variant is known to cause a disorder (for example, the specific variant in the HBB gene that causes sickle cell disease). This type of test is often used to test family members of someone who is known to have a particular variant, to determine whether they have a familial condition. Also, direct-to-consumer genetic testing companies typically analyze a number of specific variants in particular genes (rather than finding all the variants in those genes) when providing health or disease risk information.
o Single gene: Single gene tests look for any genetic changes in one gene. These tests are typically used to confirm (or rule out) a specific diagnosis, particularly when there are many variants in the gene that can cause the suspected condition.
o Gene panel: Panel tests look for variants in more than one gene. This type of test is often used to pinpoint a diagnosis when a person has symptoms that may fit a wide array of conditions, or when the suspected condition can be caused by variants in many genes. (For example, there are hundreds of genetic causes of epilepsy.)
o Whole exome sequencing/whole genome sequencing: These tests analyze the bulk of an individual’s DNA to find genetic variations. Whole exome or whole genome sequencing is typically used when a single gene or panel testing has not provided a diagnosis, or when the suspected condition or genetic cause is unclear. Whole exome or whole genome sequencing is often more cost- and time-effective than performing multiple single gene or panel tests.
Another way to look at the different types of genetic testing is their common usage, which includes these seven:
Genetic testing has already revolutionized healthcare, and it is likely to play an increasingly important role in the future.