Direct-to-Consumer Genetic Testing
What is genetic testing exactly?
Genetic testing is a way to examine your DNA. DNA is the biological database that contains and communicates instructions for your body’s growth and function. During genetic testing, mutations in your genes may be revealed. These changes can cause disease, malformation, or a variety of disorders.
However it is important to keep in mind that no matter what genetic health testing may reveal, a positive result does not automatically mean you will become ill or develop a disease, just as in certain situations, a negative result won’t guarantee that you will avoid illness.
Speaking with a doctor and/or genetic counselor about how you will interpret and handle the results of genetic testing may be the most significant part of the process.
What is genetics?
Genetics is the science of heredity, or in other words, the study of how traits (physical variations) are inherited. A gene is a short length of DNA that controls hereditary material. Genes are passed from biological parents to their children, transferring information to the next generation. Genes control things like height, eye color, and tendencies to weight gain or muscle development, as well as the full range of intellectual abilities.
We’ve all seen at least one image of DNA: the double helix that looks like a spiral staircase. What does DNA do? The two most important things DNA can do are duplication and information. DNA can make copies of itself, and, like a super-advanced hard drive, it can carry massive amounts of information in a very tiny space. It can also transmit information containing genetic instructions to be carried out.
Along the spiral staircase of DNA, we find genes, tiny stretches of DNA that code for specific proteins. For example, a single gene will code for the insulin protein, which plays a crucial role in the body’s control of sugar in the blood. If insulin is not coded correctly in someone’s gene, that person may get diabetes.
Each DNA molecule contains thousands of genes. The genes are neatly packaged inside chromosomes.
We inherit two copies of each gene, one from each parent. Most genes are identical across the human population, but a small number of genes called alleles contribute small variations in each person’s physical makeup.
Gene names can be very long. They are also sometimes assigned shorter names as a way of keeping track of them. For instance, on chromosome 7, the gene associated with cystic fibrosis is labeled CFTR (cystic fibrosis transmembrane conductance regulator).
We currently have an understanding of some of our genes. Genes in total make up about 3% of our DNA. The other 97% of DNA remains a mystery, although scientists believe some of it may have to do with gene control.
What is direct-to-consumer genetic testing?
Traditional genetic testing is most often done through doctors, nurses, genetic counselors and other healthcare providers and health facilities. Healthcare professionals examine or speak with the patient, determine which test will be most useful, order the test, collect, package, and send the DNA sample to a laboratory, interpret results, and share the test results with the tested individual. This may or may not be covered by health insurance.
Direct-to-consumer testing works differently. Consumers generally find out about direct-to-consumer (DTC) through word of mouth, social media, online, or through print advertising. The tests can be ordered online or bought in stores. Different tests can be done using saliva, a cheek swab, or a blood sample. Then, the DNA sample is sent to the company, and customers get their results via secure website or mailed in a written report. A healthcare provider or health insurance company will most likely not be involved in the process at all.
There are many direct-to-consumer genetic testing products that cover a variety of screenings and predictions. Some of the most popular tests make predictions about the customer’s health and offer clues to ancestry. Others may offer information about common traits that the customer has inherited.
As with any consumer product that is less regulated, it is wise to consider the quality of services and the relevance of possible results before making a decision on which direct-to-consumer genetic testing path to consider or pursue.
Direct-to-consumer genetic testing may also be known as DTC genetic testing, direct-access genetic testing, at-home genetic testing, or, simply, home DNA testing. Genealogy testing (or ancestry testing) is considered a type of DTC genetic testing as well.
What to do following direct-to-consumer genetic testing?
Have you been wondering whether you or your child or family member may want to look into genetic testing? If you have noticed certain characteristics in yourself or your child that may point to a rare disease, or if you have been referred for testing, have been considering getting tested, or have received abnormal results on your tests, you may wish to speak with a genetic counselor. A genetic counselor is professionally trained to understand and explain your results, direct you to services that may offer the support you need, and help you make informed decisions about your health or your child’s health.