What is Genetic Testing?
Genetic testing involves a medical test that identifies changes in proteins, chromosomes, and genes, with the goal of confirming or ruling out a specific genetic condition. These tests may also help determine your chance of passing along a genetic disorder or developing a genetic disorder. Genetic testing studies DNA sequencing to identify mutations that can potentially cause or increase the risk of a genetic disorder. Chromosomal genetic tests analyze long lengths of DNA or entire chromosomes to determine whether there are genetic changes that could cause a specific genetic condition. Biochemic genetic tests study proteins—the amount or activity level of enzymes or proteins. Genetic testing has many benefits, although there are also risks and limitations.
Common Disorders Identified Through Genetic Testing
Many different disorders can be identified through genetic testing. Because of this, receiving a genetic testing insurance denial from your insurer can be disheartening, to say the least. Some of the genetic disorders that can be identified through genetic testing—or disorders that can be genetic disorders identified via genetic testing—include:
- Down Syndrome—If a blood test and ultrasound screening during a woman’s pregnancy indicates the baby has Down Syndrome, genetic testing may be done to confirm the diagnosis. The diagnostic/genetic test for Down syndrome involves removing a sample of genetic material, and then checking it for extra material from chromosome 21. The genetic material could be taken through a sample of amniotic fluid during weeks 14-18, chorionic villus sampling (CVS), which involves taking a sample of cells from the placenta between weeks 9-11 of the pregnancy, or umbilical blood sampling, taking a sample of fetal blood in the umbilical cord through the uterus between weeks 18 and 22. Maternal chromosomal testing can show the extra chromosome 21 associated with Down Syndrome, but then a more invasive genetic test would be required to confirm.
- Tay-Sachs disease is a rare, inherited disease that causes a buildup of fatty acids that damage the brain and results in loss of muscle control. A diagnostic blood test is usually done first to check levels of hexosaminidase which is an enzyme in the blood. Levels of this enzyme are low or absent in Tay-Sachs disease. Genetic testing can then examine the HEXA gene to identify whether changes that indicate Tay-Sachs disease are present.
- Huntington’s Disease is a rare, inherited disease that causes the progressive degeneration of nerve cells in the brain. The most accurate genetic testing method for Huntington’s Disease is a direct genetic test which counts the number of CAG repeats in the HD gene, using DNA taken from a blood sample. The presence of 36 or more repeats indicates Huntington’s.
- Cystic Fibrosis is an inherited disorder that causes severe damage to the digestive system, lungs, and other organs in the body. To have cystic fibrosis, a child must inherit one copy of the CFTR (cystic fibrosis transmembrane conductance regulator) gene mutation from each parent. Individuals with only one copy of this gene mutation are carriers but do not have cystic fibrosis. When two CF carriers have a child, that child has a 25 percent chance of having CF, a 50 percent chance of being a carrier while not having CF and a 25 percent chance of not having CF and not being a carrier.
- Turner Syndrome is a chromosomal disorder in which a female is born with only one X chromosome. The symptoms of Turner Syndrome include short stature, infertility, learning disabilities, heart defects, and delayed puberty. Karyotyping is a genetic test that analyzes the 23 pairs of chromosomes and can be done by using an amniotic fluid sample while the baby is in the womb, or after birth, using a blood sample from the baby.
- Muscular Dystrophy is a group of genetic diseases that results in progressive weakness and loss of muscle mass as a result of abnormal genes, or gene mutations. There are different types of muscular dystrophy and genetic testing will confirm whether an individual has Duchenne or another type of muscular dystrophy such as Becker.
- Breast Cancer—About 5-10 percent of all breast cancers are believed to be hereditary, caused by abnormal genes that are passed from parent to child. BRCA1 and BRCA2 genetic mutations are associated with inherited cases of breast cancer. Everyone has these genes, whose function is to repair cell damage and keep breast, ovarian, and other cells growing normally. When these genes contain hereditary mutations, there may be a higher breast cancer risk.
- Colon Cancer may be hereditary in some cases; those with Lynch syndrome are at a significantly increased risk for colorectal cancer, depending on which gene mutation is causing the syndrome. Those with Lynch syndrome are also at an increased risk for uterine cancer, ovarian cancer, stomach cancer, pancreatic and kidney cancer, brain cancer, and ureter cancer.
Who Does Genetic Testing serve?
Genetic testing has a wide array of potential uses. Changes in your DNA can inform your physician on the best way to proceed with your medical care in many instances. Genetic testing looks for variants or mutations in your DNA. As an example, if you have a genetic condition like Fragile X or you have a family history of cancer, genetic testing can help provide a diagnosis, leading to treatment options. Genetic testing can help you discover whether you have a genetic condition that runs in your family before you even have symptoms, or could help you learn about the chances that a baby could have a genetic condition. Genetic testing could help diagnose a genetic condition or could guide your cancer prevention or treatment plan.
A single gene test will look for changes in only one gene and is used when there is a known genetic mutation in a family. Panel genetic testing looks for changes in many genes and is based on different types of medical concerns such as epilepsy, short stature, or low muscle tone. Panel genetic tests can also be associated with a higher risk of developing breast or colorectal cancer. Large-scale genetic or genomic testing looks at all the genes in the DNA or just the genes related to a medical condition, while genome sequencing is the largest genetic test and looks at the entirety of a person’s DNA. These more complex genetic tests are ordered for those with complicated medical histories.
What Conditions Require Genetic Testing?
Genetic testing is also called DNA testing and may encompass any of the following types of testing:
- Predictive and pre-symptomatic testing can test for the likelihood that you will develop a genetic condition later in life, such as breast cancer.
- Certain genetic diseases can be confirmed or ruled out through the use of diagnostic testing. Diagnostic testing can be used during pregnancy or at virtually any other time as a method of confirming a diagnosis.
- Chromosomal or genetic mutations can be identified through prenatal testing. Although not all conditions can be tested by using prenatal testing, it can increase the chances of having a condition identified before birth.
- Newborn genetic testing screens for specific hormone, metabolic, or genetic conditions. Currently, hospitals can screen for more than 35 conditions in newborns.
- Carrier testing can help determine whether a person is carrying a gene for a specific condition long before they exhibit any symptoms of the condition. Carrier testing may be done when a family has a history of a specific disease.
- Genetic mutations can be found in embryos by using pre-implantation testing. Only the embryos that test negative for genetic mutations would be implanted.
Genetic testing can confirm or rule out conditions like Down Syndrome, Huntington’s disease, cystic fibrosis, sickle cell disease, phenylketonuria, colon cancer, and breast cancer. There are few physical risks associated with genetic testing, although prenatal testing carries a small risk of miscarriage.
Which Insurance Companies are Known to Deny Genetic Testing?
Although any insurer could deny your physician’s request for genetic testing, some companies may be more likely to do so. Californians may have Anthem Blue Cross, Blue Shield, Health Net, Kaiser, United Healthcare, Aetna, or another insurer. Attorney Scott Glovsky has gone up against all of these insurers with positive results.
Why Could Your Genetic Testing be Denied by Your Insurance Company?
Your genetic testing could be denied by your insurance company because the paperwork was not properly filled out, or for other procedural mistakes. The claim may not have been filed in a timely manner, it could have been miscoded, or there may have been no pre-authorization for the testing. Other than technicalities, the usual reasons a health insurance claim is denied is that the treatment is not considered medically necessary, or is considered experimental or investigational. Regarding genetic testing, the most likely reason for a denial would be that the insurer does not consider the testing to be medically necessary.
What Should You Do About a Genetic Testing Insurance Denial?
If you’ve received a genetic testing insurance denial, it is important that you know why your genetic testing was denied. The Explanation of Benefits you received from your insurer should tell you exactly why your claim was denied. You can file an internal appeal directly with your insurer by following the process listed in your handbook, then if that appeal is unsuccessful, you can file an external appeal. The external appeal is through an independent review organization that will determine whether to uphold or overturn your insurer’s decision. Learn more about filing your internal appeal here.
How Can a Genetic Testing Insurance Denial Attorney from the Law Offices of Scott Glovsky Help?
It can be extremely discouraging to find that the insurance company you have spent years paying premiums to has turned its back on you in your hour of need. Having an attorney in your corner who will aggressively fight for your rights and your future can make all the difference for you. Attorney Scott Glovsky and his legal team have forced insurance companies to change their behavior and pay for treatments they should pay for.
We will help you appeal your insurer’s adverse decision while convincing the insurer that your genetic testing is medically necessary. The mission of the Law Offices of Scott Glovsky is to help those who have been wronged, while truly caring about you, your family, and your future. We will always treat you with respect and dignity as we boldly fight on your behalf. Contact the Law Offices of Scott Glovsky today for a free case evaluation.