Skip to main content

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.

#Genetic #GeneticTesting, #DNAAnalysis, #GeneticScreening, #CarrierTesting, #PrenatalTesting, #NewbornScreening, #PredictiveTesting, #DiagnosticTesting, #PharmacogeneticTesting, #AncestryTesting, #MolecularGenetics, #GenomicMedicine, #PrecisionMedicine, #InheritedDisorders, #GeneticCounseling, #GeneticHealth, #PersonalizedMedicine, #DNAResearch, #GeneTesting, #MedicalGenetics,


Comments

Post a Comment

Popular posts from this blog

Genetics role in ovarian cancer

The Medical Minute: Genetics play big role in ovarian cancer In 2024, about 19,680 women in the United States will receive a new diagnosis of ovarian cancer and 12,740 women will die from the disease, said Dr. Shaina Bruce , a gynecologic oncologist at Penn State Cancer Institute . The median age of all patients who develop ovarian cancer is 63. Historically, women at increased risk for ovarian cancer are recommended to have their fallopian tubes and ovaries removed when they have completed having children. Taking that step to protect themselves comes at a heavy price ― surgical menopause. But Bruce said medical science is catching up with ovarian cancer. Studies could lead to new methods for preventative care and the surgery needed to lower risk may be easier than it once was. Below, during Gynecologic Cancer Awareness Month, Bruce discusses the disease and why acting to reduce your risk is worth it. What’s the connection between heredity and ovarian cancer? About 25% of all cases of ...
Post a Comment
Read more

Multifactorial Genetic Conditions

Multifactorial Genetic Conditions Multifactorial genetic conditions are disorders caused by the combined effects of multiple genes and environmental factors , rather than a single gene mutation . These conditions do not follow classic Mendelian inheritance patterns and instead result from complex gene–environment interactions . Factors such as lifestyle, nutrition, infections, stress, and exposure to toxins can significantly influence disease onset and severity in genetically susceptible individuals. Common examples include diabetes, cardiovascular diseases , neural tube defects, asthma, and many neuropsychiatric disorders. Understanding multifactorial inheritance is essential for risk prediction, preventive medicine, and personalized healthcare strategies. Multifactorial inheritance, polygenic traits, gene–environment interaction, complex diseases, genetic susceptibility, environmental risk factors, non-Mendelian inheritance, disease predisposition, polygenic risk score, precision ...
Post a Comment
Read more

X chromosome

Gene on the X chromosome may help explain high multiple sclerosis rates in women Brain inflammation may be fueled by a gene on the X chromosome, a new study in mice suggests. And in female mice, who carry two X chromosomes, a diabetes drug called metformin may work to counteract that inflammation. If these findings bear out in later studies, they could help to unravel the long-standing mystery of why women, who have two copies of this inflammation-driving gene, are more prone to certain autoimmune diseases, particularly after menopause. A disparity between the sexes Our bodies are patrolled by immune cells that provide protection against bacteria and viruses, but sometimes, these defenses turn on us. In the autoimmune disorder multiple sclerosis (MS), for instance, the immune system attacks myelin, the fatty insulation surrounding the nerve fibers in the brain and spinal cord. This leads to symptoms such as muscle weakness and difficulty walking, as well issues with memory and thinking...
Post a Comment
Read more