The Life-long Benefits of Genetic Testing

 Throughout history, parents have expressed frustration about the fact that children don’t come with instruction manuals. Scientific research in the field of epigenetics has finally made it possible for them to create one. While we all have fixed DNA, environmental factors genetic testing denver tech center obgyn dr eule md obgyncan determine which of our genes are activated–or de-activated–throughout our lives. The information from genetic testing can be used to create a life-long health care plan designed to activate as many beneficial genes as possible while suppressing the expression of potentially unhealthy ones.

Genetic testing can be beneficial during every stage of life–from young couples contemplating having their first child to the elderly planning their retirements. A small sample of DNA can result in a big improvement in the quality of someone’s life. There are several types of genetic testing.

Carrier testing

This type of testing is commonly utilized by couples contemplating becoming parents. It identifies certain genes that, when present in both parents, could cause a genetic disorder.

Prenatal and Preimplantation Testing

Prenatal testing during pregnancy can detect changes in a fetus’s chromosomes. Many couples with a family history of genetic disorders choose in-vitro fertilization combined with preimplantation genetic testing to reduce the risk. In preimplantation testing, a small number of embryonic cells are tested for genetic changes. Only those without changes are implanted in the uterus to begin a pregnancy.

Testing During Pregnancy

Testing during pregnancy can determine if the fetus has chromosomal abnormalities.  Amniocentesis is a test performed typically during the second trimester. During this test, a sample of amniotic fluid is collected through the needle and sent to the lab for analysis. An amniocentesis (amnio) can determine whether or not a baby has a normal number of chromosomes.   Another option for testing during pregnancy is Cell-Free Fetal DNA. This is a noninvasive prenatal screening option. A blood sample is taken from the mother and screened for certain chromosomal abnormalities in a developing baby.

Newborn Genetic Screening

Newborn screening identifies genetic disorders that can be successfully treated to prevent long-term disabilities. Infants in every state are tested for phenylketonuria and congenital hypothyroidism. Many states also test for cystic fibrosis and sickle cell anemia. Parents are currently lobbying to include mandatory testing for adrenoleukodystrophy (ALD).

Predictive and Pre-symptomatic Testing

This type of testing is used to detect gene mutations that can result in disorders that might be expressed later in life. Pre-symptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis or Parkinson’s disease. With this information, people who have not yet exhibited any symptoms can make lifestyle modifications to reduce the severity of future symptoms.

Diagnostic testing

Diagnostic testing can be performed at any time during a person’s life. While there are not tests for every known disorder, there are tests for many types of gene mutations. Parkinson’s disease and MTHFR , an enzyme deficiency that can result in more serious health issues, are two disorders that can be successfully identified through genetic testing. Researchers in a clinical study of 554 children with autism analyzed genomic data and found the specific gene associated with autism.

Pharmacogenomic testing

This type of testing provides information about how specific medications are processed by an individual’s body. This information helps your health care provider choose the treatment options that work most effectively with your unique individual genetic makeup.

Continuing Research

Medical researchers are continuing to expand the amount of information that can be obtained by genetic testing. One of the most exciting new developments is research being conducted on the causes of autism. Researchers analyzed the genomic data of 554 children with autism and compare it to data from 214 children without the disorder. They were able to identify the genetic variation, known as rs6010065, associated with autism spectrum disorder. This discovery will most certainly lead to quicker and more accurate diagnoses. It could also lead to the development of new drugs that would lessen the severity of the symptoms associated with the condition.


The increasing number of benefits of genetic testing have made it both more widely available and more affordable. Laboratories now offer testing services for as little as $150.00Genetic testing promises to take the quality of health care to a whole new level. Test results enable doctors to create more thoroughly informed life-long individual wellness plans than have ever before been possible. Self-knowledge is always the first step towards health and healing.