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It all started as a mapping project. Once they mapped the human genome, genetic scientists started finding many ways to use this knowledge to improve the health of humans. While there are a few ethical issues, the good outweighs any negatives.
The uses of genetic testing vary from helping law enforcement, to predicting cancer, to using it to prescribe medications.
As we learn more about the role of genes in determining health and behavior, scientists and health professionals will continue to find uses for genetic testing. Currently, there are several common uses for genetic testing as well as evolving areas.
Forensic DNA Testing
Forensic DNA testing is all over any crime-based television show.
It is depicted as the definitive guide to determine guilt or innocence. While it is not as quick or simple as shown on television, it is a powerful tool to determine a person’s culpability.
DNA testing can also be used to identify catastrophe victims or establish biological relationships.
This type of test is used to determine if a person has a disease and is very similar to other types of pathology tests. It is used to confirm or rule out a genetic cause for a disease. Sometimes it can help determine a preferred course of treatment.
Predictive and Presymptomatic Testing
This type of testing had a bright light shone on it when Angelina Jolie announced her surgeries to prevent breast cancer. She was tested for the BRCA1 and BRCA2 gene mutations that correlate closely with the occurrence of breast cancer.
Predictive testing checks if someone has a gene that is linked with a specific disease. It can give an indication of their possibility of contracting the illness.
Often, this test is given even if someone does not have a family history of the disease. It can identify mutations that may be precursors of certain cancers or other diseases.
Presymptomatic testing is used to determine if someone with a family history of a disease, but no symptoms, has the gene. This can show if a disease is present before symptoms occur.
While inherited mutations are thought to play a role in only five to ten percent of all cancers, if your family has a history of a specific type of cancer, these tests can ease your mind or help plan for a possible course of action.
A carrier is someone who has one good copy and one faulty copy of a specific gene which is known to cause a genetic disease.
Many of these diseases are hereditary, and passed on when both parents have a faulty copy of the gene. If a disease runs in the family then this test can help parents determine if their kids might inherit the disease.
This is often considered controversial. It is used to test a fetus for genetic disorders. Parents will have this done if there is an increased risk the baby will have a genetic or chromosomal disorder.
While it can decrease parents’ uncertainty in some areas, it will not identify all possible issues. The controversy comes because some parents may choose to end a pregnancy if the test indicates a serious issue.
This a specialized technique used when a couple is undergoing in-vitro fertilization (IVF).
There are two different procedures available, PGS and PGD. Preimplantation genetic screening tests for unknown abnormalities in the chromosomes, whereas preimplantation genetic diagnosis tests for specific genetic disorders that the parents are known to be carriers of.
These procedures confirm the genetic health of an embryo before it is implanted into the mother’s uterus. By ensuring the health of the embryo, there is a greater chance of a safe and healthy pregnancy.
Also, by ensuring the healthiest embryo is used, it improves the chances of the implantation, hopefully reducing the number of courses needed for a successful pregnancy.
There are a some genetic disorders that, if detected, can be treated in infants before they cause serious problems. The tests are required by law and include screening for phenylketonuria (a genetic disorder that can cause intellectual disabilities if not treated) and hypothyroidism (a disorder of the thyroid gland).
Other conditions can be included in this screening. Most states also mandate a test for cystic fibrosis, sickle cell disease and HIV. If certain hereditary conditions exist in the baby’s family, parents might ask for the screen to check for those also.
A very exciting development in the medical field is personalized healthcare technology. The idea is to use all the technology available (including wearable health devices and DNA testing) to treat a patient as a true individual with unique genetic and metabolic needs. One of the tools currently being used on a small scale is pharmacogenetic testing.
There are drugs that are known to work well for some patients and not for others.
By studying the genetic makeup of the two types, scientists can determine the genotype of a successful user. By then doing genetic testing on patients, doctors can prescribe the correct drug the first time around, instead of by trial and error. This has been very successful in prescribing antidepressants for seniors.
Also, it might allow certain drugs to be approved by the FDA that were not previously. Sometimes a drug will work really well for a certain genetic type, but be useless or even harmful for others.
By using gene testing, these drugs could be approved for use by those with the specific genetic profile, allowing them to get the best treatment possible.
Technology is helping the field of medicine grow and change at a rapid rate.
New discoveries and breakthroughs are made regularly. This is especially true in the areas of genetic testing. Through the study of genes, scientists are hoping to discover how to cure and prevent some of our toughest diseases.
As a patient, this is a technology to embrace for its potential benefits to your long-term health. However, with any field that is this complex, it can be difficult to understand information provided by tests. While the results might seem clear cut, their effect on your overall health might not be.
This is why it is always recommended that patients talk to a gene counselor before any actions are taken based on a genetic test.
[thrive_text_block color=”blue” headline=”Author Bio”]Valerie, originally a computer programmer, is enjoying a new career as a freelance writer. She loves to write about business, technology and health. When she isn’t mountain biking with her dog, practicing her public speaking skills, or reading, she is writing about everything she has learned. Follow her on twitter: @vkjocums [/thrive_text_block]
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