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People from around the world have been using home DNA testing kits for years to find out details about their ancestry and genealogy. Now, for the first time in history, a small number of companies are also offering genetic testing – another form of DNA testing that provides early risk information about certain diseases such as Parkinson’s, early-onset Alzheimer’s, and various types of breast cancer.
What is Genetic Testing?
Genetic testing involves examining your DNA to see if there are any mutations in your genes that pose a high risk of illness or disease. It is important to mention here that a positive result doesn’t guarantee you will develop a certain disease, and a negative result doesn’t guarantee you won’t get a certain disease. Rather, it points to certain mutations in your genes that put you at a higher risk of a certain disease – and therefore allow you to take steps to prevent triggering the disease, to manage the disease, to detect the disease early, or to not pass it on to any future children.
Why is Genetic Testing Suddenly Available?
In April 2017, the US Food and Drug Administration announced it was allowing 23andMe, one of the leading direct-to-consumer DNA testing companies, to offer its Personal Genome Service Genetic Health Risk test for 10 diseases or conditions to the public. These were the first direct-to-consumer tests authorized by the FDA that provide information on an individual’s genetic predisposition to certain diseases or conditions. Following this breakthrough announcement, it is expected that more direct-to-consumer DNA testing companies will soon begin offering their own genetic tests to consumers in the U.S. and around the world.
What are The Top Benefits of Genetic Testing?
Nobody is predestined to suffer from a certain disease or condition, just like nothing else is predestined in life – aside from death and taxes, of course. While genetic testing results can cause some people to freak out, they actually provide many benefits as they can act as an early warning sign and help people to avoid a disease.
The top benefits can be summed up as follows:
  • A genetic test could reveal that your DNA sequence puts you at high risk of a certain genetic condition or disease. If this happens, you and your doctor can discuss what steps you need to take in your life in order to avoid triggering that disease (if a known trigger exists).
  • If you are found to carry certain mutations for diseases such as breast cancer or ovarian cancer, you and your doctor can set a schedule to conduct tests at regular intervals. By going in for regular screening tests, you put yourself in a position for early detection and give yourself as high a chance as possible of beating the disease if it is detected.
  • Even if your results don’t highlight any particular risks, they should be able to reveal things about your genetic makeup that you can use to design a healthy lifestyle and diet to suit your genetics.
  • Certain types of genetic testing can reveal whether a person or people carry genes that pose a high risk of certain chromosomal diseases or conditions to future offspring. Based on this, individuals or couples can make decisions about whether or not it is safe to have children. Although this type of testing is restricted to specialist medical facilities, it is possible that it could be offered direct to consumer in future.
  • If, based on your family history, you suspect that a certain disease or condition runs in your genes, you can use genetic testing to find out whether you are correct or not. If your suspicions turn out to be correct, you can consult a medical professional and take early steps to prevent or manage the disease.
How Does Genetic Testing Work?
Genetic DNA testing works exactly the same as genealogical DNA testing, in that a person’s saliva sample is sent to a lab to be tested for 500,000 to 700,000 genetic variants, or SNPs (single nucleotide polymorphisms). The presence or absence of some of these variants demonstrates an increased risk for developing certain diseases. In the case of 23andMe’s tests, customers are tested for the following 10 diseases:
  • Parkinson’s disease, a nervous system disorder impacting movement;
  • Alzheimer’s disease, a brain disorder that destroys memory and thinking skills;
  • Celiac disease, a disorder that makes the carrier unable to digest gluten;
  • Alpha-1 antitrypsin deficiency, a disorder related to increased risk of lung and liver disease;
  • Early-onset primary dystonia, a movement disorder involving uncontrolled movements;
  • Factor XI deficiency, a blood clotting disorder;
  • Gaucher disease type 1, an organ and tissue disorder;
  • Glucose-6-Phosphate Dehydrogenase deficiency, or G6PD, a red blood cell condition;
  • Hereditary hemochromatosis, an iron overload disorder; and
  • Hereditary thrombophilia, a blood clot disorder.
What will the report tell you?
The below information is what 23andMe offers in its genetics report. As additional DNA testing companies enter the genetics-testing field, it’s safe to assume that they too will offer similar information to customers:
  • An overview of any conditions for which the customer is at high risk and whether the test detected certain genetic variants in their DNA;
  • An overview of how to evaluate the report, including information on which ethnicities are most relevant to each test;
  • An overview of what the genetic results mean;
  • Information about lifestyle and other factors that may influence the customer’s risk of developing certain conditions;
  • Additional resources on a disease or condition, if the customer is flagged as high risk; and
  • Recommended next steps based on the results.
Conclusion
Although direct-to-consumer genetic testing has only been around for a short time, the science behind genetic testing is well-established and has been used to help many people around the world identify a high genetic risk for certain diseases or conditions. With the opening up of such testing to the general public, it is now possible to order a genetic test for as cheap as $200 and without a referral from your doctor. If you believe your genes might put you at risk of one disease or another, there’s only one way to find out: genetic testing.