FAQ About Molecular Testing



Consumer Genomic Testing Versus Physician-initiated Genetic Testing


What is Consumer Genomic Testing?

Consumer Genomic Testing, also known as Consumer Genetic Testing or Direct Access Genetic Testing, refers to any genetic test that is marketed and delivered directly to the consumer or person who wishes to have the test performed, which may or may not be authorized by a physician. Direct-to-Consumer Genetic Testing is used to describe testing which is ordered by the consumer and does not require a physician authorization. There are a number of consumer genomic tests currently being marketed to consumers, some which reveal information relevant to an individual's health and some that do not. Some examples of consumer genomic tests that do not provide health information about the individual include ancestry tests and those that attempt to convey non-medical information, such as genetically-based differences in taste of foods.  Consumer genomic tests that provide health information include inherited disease predisposition testing, tests that predict a person’s response to certain medications (pharmacogenetics), and tests that detect whether you have a gene that you can pass to your children that may increase their chances to developing certain diseases (carrier testing). 


Can A Consumer Genomic Test Identify My Risk of Developing Cancer?

A number of consumer genomic tests can diagnose, predict, prognosticate, and/or otherwise reveal information that is relevant to a person's health, including a person’s inherited risk of developing cancer.  These tests may have a limited ability to screen for certain types of genomic changes, which is why it is important to discuss results with a physician. If you have a positive test result, you should be referred to a licensed genetic counselor to discuss your results. In addition, the results of these tests may have an impact on eligibility for certain types of insurance (you can read more about this in the Additional Considerations for Molecular Testing section below). You can read more about AMP’s position on consumer genomic tests that may benefit consumers/people here

If you have results from a consumer genomic test, and would like to understand how they may impact your health, please discuss with your doctor or health care provider.   


More Information on Consumer Genomic Testing:

You can find more information from the U.S. National Library of Medicine on how consumers can be sure a genetic test is useful and valid here.    

Additionally, the Personalized Medicine Coalition released a Consumer's Guide to Genetic Health Testing. The Guide includes information on the topics below:

  • What is genetic testing?
  • Why would I order genetic testing?
  • What should I consider before ordering genetic health testing?
  • How can I order a genetic health test?

Additional Considerations for Molecular Testing


Is this covered by insurance?

Insurance coverage for molecular testing is highly variable. For physician-ordered molecular tests, insurance coverage will be determined by the specific policies of the insurance carrier, the person’s specific diagnosis, and the relationship between the insurance carrier and the testing facility. It is also becoming common for insurance carriers to require medical providers to go through a “pre-authorization” (or “prior authorization”) process before a test is able to be ordered and covered. The only way to determine if a specific test will be covered is for a person to contact their insurance carrier and request this information. The insurance carrier should also provide information on any required pre-authorization steps before the test can be performed.

Consumer genomics tests (as described in the section above) are usually paid for by the consumer online, although in some cases insurance coverage may be available. 


Can I be discriminated against based on my genetic information?

In 2008, Congress passed the Genetic Information Nondiscrimination Act (GINA). GINA protects individuals from being discriminated against on the basis of their genetic information in the workplace and by health insurers. Genetic Information is outlined by GINA as information about an individual’s and/or family member’s genetic tests and family history. In the workplace, GINA prevents employers from making job-related decisions (such as firing or hiring employees) based on an individual’s genetic information. However, the workplace protection in GINA is limited to companies with more than 15 employees.

The health insurance protections provided by GINA are a little bit less straight-forward. GINA prevents health insurers from determining the eligibility, cost, coverage, or benefits of a health insurance policy based on an individual’s genetic information. Additionally, GINA prohibits insurers from requiring individuals to undergo genetic testing for coverage. However, GINA does not provide protection for individuals for a condition that is already diagnosed, even if the condition has a genetic component. 

Further, while GINA provides protection for health insurance decisions, it does not provide protections for life, disability or long-term care insurance.

You can find more information about GINA below:


Is my genetic information private?

The laws that protect genetic information depend on the entity that oversees the information. For molecular tests that are ordered by a healthcare professional, are performed in a clinical laboratory setting and are part of a person’s health record, genetic information is considered personal health information (or PHI) and is protected under the Health Insurance Portability and Accountability Act (HIPAA).

The privacy policies for consumer genomic tests are not regulated by any specific legislation at the moment and depend on the individual company’s privacy policy. All consumers should be able to find a full explanation of a consumer genomic testing company’s privacy policies on their website. Recently, Congress has become interested in preparing some type of legislation that would involve privacy online, and this might include genetic information, but nothing has been introduced yet.  


How can I interpret my genetic testing report?

AMP has prepared a Reference Sheet to help Oncologists interpret Genomic Assay results. 

Additionally, AMP is currently working on reference materials to help patients read and understand their molecular pathology report. Please check back at a later time to access this resource. 


How are laboratory tests regulated?

Hear how exome sequencing helped families finally receive the correct diagnoses for their children and how Laboratory Developed Testing Procedures (or LDPs), such as exome sequencing, are currently regulated.



What if my question is not answered here?

If you have additional questions, or suggestions for content on this website, we invite you to contact us here. Please be advised that we cannot provide medical or legal advice and we cannot comment or consult on specific patient cases.