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Genetic Testing
  Costs of Genetic Testing
By Amanda Ewart Toland, PhD

Reviewed by Miriam Komaromy, MD


You and your doctor or genetic counselor have decided that genetic testing is right for you. Your doctor has chosen a laboratory and the appropriate test based on your personal and family medical history. Now you are hit with the surprisingly high cost of genetic tests and have a growing list of practical questions:


Why Are Genetic Tests so Expensive?

The cost of testing can vary widely depending on:
  • Type of laboratory procedure used
  • Cost of the labor involved in the procedure
  • Size of the gene being tested
  • Number of genes that are tested
  • Royalty or patent costs involved in the test
  • Whether the test is being done in a commercial or research lab
Still, you may wonder, "Why do genetic tests seem more expensive than other types of laboratory tests?" There are a number of reasons:

Genetic tests are rare. One reason for the high cost is that because genetic tests are rare. Laboratories do not conduct hundreds of tests a day like they do with more common (and less expensive) medical tests. As more people decide to get genetic testing and more tests are offered, the cost may decrease.

Genetic tests are labor intensive. DNA-based tests are often more labor intensive than other laboratory tests and many involve expensive equipment. For example there is the added step of extracting the DNA from the blood sample you supply — a step not necessary for nongenetic tests.

Genetic test results undergo multiple levels of review. The cost of the test always includes review of your result by the laboratory director. Remember these tests are not your standard cholesterol tests! It is to your benefit to pay to have careful review of the entire testing process that generates your genetic result.

There are often additional costs associated with genetic testing. There may be additional costs to you besides the actual cost of the genetic test. These may include any cost for blood draw or specimen collection, Federal Express or other shipping costs, and genetic counseling or physician fees. These costs may vary depending on who orders your test. For example, medical insurance may help pay for time you spend with a doctor but not necessarily for time you spend with a genetic counselor. Also some doctors' offices require patients to pay for shipping and others do not.



What Do Genetic Tests Really Cost?

Often there are multiple ways to test for a given genetic syndrome or mutation and these different methods can vary in price. The table below is based on a Genetic Health survey of approximately 38 clinical laboratories offering tests for the different genetic syndromes listed on the left. The table can give you a sense of the variation in test costs based on both syndrome and type of test.


Costs for Selected Genetic Tests by Disorder and Type of Test
LAB Test Sequencing
Heteroduplex Analysis
BRCA-Ashkenazi mutations
DGGE=Denaturing gradient gel electrophoresis
ASO=Allele specific oligonucleotide
PTT=Protein truncation test



Should I Opt for the Less Expensive Test?

Which test you need depends on many things including the nature of your disorder and what is known about other people in your family.
It is important to keep in mind that just because one genetic test is cheaper than another does not mean that it is the right or wrong test for you. In many cases, the cheaper tests will only pick up a subset of known mutations; screen for parts of a gene, or test for known mutations in a family. The more expensive tests are often those that will screen whole genes and identify mutations when one has not previously been identified in a family. Which test you need depends on many things including the nature of your disorder and what is known about other people in your family. For example, if the mutation that runs in your family has already been identified in another relative, often it will be significantly less expensive for you to be tested.



How Long Does it Take to Get Test Results Back?

You may have other practical questions involving the testing process. One commonly asked question asked is, "How long until I get my results back?" The length of time varies, usually due to the type of test used and the size and number of the genes being screened. There is also a great deal of variability between laboratories. Some have a quicker turn around time while others may wait until they have collected a number of samples before they begin testing a batch. For a thumbnail sketch of the turn around times for different disorders, see the table below.


Range of Turn Around Time for Genetic Tests
Type of Genetic Test Range of Time for Test Result*
HNPCC 4-20 weeks
FAP 2-4 weeks
BRCA1 (sequencing) 3-4 weeks
BRCA2 (sequencing) 3-4 weeks
BRCA (Ashkenazi Mutations) 1-4 weeks
*Based on a Genetic Health survey of 38 clinical laboratories conducting these tests.



Should I Use Insurance to Pay for A Genetic Test?

By now you have noticed that genetic tests can be very expensive. The next question is whether your medical insurance will cover your test or if you even want them to cover your testing. Some individuals choose not to bill their insurance for genetic tests because of a number of potential privacy and discrimination issues that may arise if genetic testing is covered by insurance. Even if you decide that it might be better for you to have your insurance cover your testing, not all genetic tests are covered routinely since these tests are new and the benefits may not be straightforward. It may help to weigh the potential pros and cons of using your insurance or paying out of pocket.

Pros of using insurance: The biggest pro of using insurance is that genetic tests cost money. Having your insurance company pay for the testing will save you from paying up to thousands of dollars for testing. If you get a positive result, your insurance company may be more likely to cover medical interventions specific for your disorder.

Cons of using insurance: If you use insurance to pay for testing, there will likely be a record in your file that a genetic test was ordered for you. The results may or may not be part of this record. This creates the potential for lack of genetic privacy that may lead to job, medical, or other discrimination.

Your genetic results could cause a loss of privacy for other family members like sisters, brothers, and children.

You may not be worried about your genetic information being available to your insurance company or others, particularly if you have been diagnosed previously with the disorder. However, your genetic results could cause a loss of privacy for other family members like sisters, brothers, and children. Also, if an insurance company knows that you have had genetic testing, they may request the test result. In some cases, insurance companies have not understood how to interpret a non-informative result (a result that isn't positive, but also can't be considered a negative) and have denied coverage for medical interventions for a person's disorder.

Pros of paying out of pocket: If you pay out of pocket for your testing, there will be no note in your records through your insurance company that you had genetic testing and no record of your testing result. This greatly decreases the potential for discrimination or lack of privacy. Another possible benefit to paying out of pocket is that your insurance company may not cover all types of genetic tests. When you pay out of pocket you save time in filing futile claims for the genetic testing.

Cons of paying out of pocket: Besides the costs of genetic testing, there are some potential cons to paying out of pocket. Your insurance company may not cover medical treatment for individuals who have not gone through testing. For example they may not cover the more intensive screening required for people with a genetic risk of colon cancer without a positive genetic test. Therefore, to get coverage for preventative or other medical care related to your test result, you may need to disclose your genetic result anyway. (In some cases, disclosure of a strong family history may circumvent this possibility.)



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