How is genetic testing performed?

A certified genetic counselor or knowledgable physician will provide counseling to assess the person’s risk and address questions regarding genetic testing. If the person wishes to continue with genetic testing after counseling, a specimen is obtained and sent to a specialized genetic testing laboratory.

Specimens commonly used for FH genetic testing include:

  • blood (from a blood draw, often one or two tubes),
  • cheek swab (also called a buccal swab),
  • saliva sample,
  • oral rinse sample (using mouthwash).

The sample is then sent to a laboratory which performs the analysis, consisting of DNA sequencing and other complementary methods for detecting variants in genes associated with FH. Many genetic testing laboratories offer an FH Panel including the three known FH genes: LDLR, APOB, and PCSK9. Some also include LDLRAP1 in the panel, which is a recessive gene that can cause FH if two variants are inherited.

What is a genetic counselor?

Genetic counselors are professionals who have specialized education in genetics and counseling to help patients make decisions about their genetic health.

Genetic counselors have advanced training in medical genetics and counseling to interpret genetic test results, and to guide and support patients seeking more information. According to the National Society of Genetic Counselors, genetic counselors can help inform:

  • How inherited diseases and conditions might affect them or their families.
  • How family and medical histories may impact the chance of disease occurrence or recurrence.
  • Which genetic tests may or may not be right for them, and what those tests may or may not tell.
  • How to make the most informed choices about healthcare conditions.

What should be expected for the pre-test genetic counseling session?

The certified genetic counselor or knowledgable physician will review the benefits and limitations of genetic testing. These include the types of results that may be returned: positive, negative, or informative. Further, they will discuss the potential impact on other family members,  particularly if a test is positive. Cholesterol screening and/or genetic testing may be recommended  for family member in that setting.

The counseling session should include information on implications of genetic testing on decisions related to life insurance, health insurance and other privacy concerns so that individuals can make the most informed decision. A person considering genetic testing may want to get life insurance and long-term care insurance in place before undergoing testing. There are no non-discrimination protections in place for life insurance and long-term care insurance for genetic conditions.

When possible, bring in records on family members or information on heart-related family history, to make your counseling session most productive.

What should I do if a genetic counselor is not available?

While genetic counselors often work with lipid clinics at larger hospitals, in private practice and in smaller towns and cities, a genetic counselor is not always available. Many genetic counselors specialize in cancer genetics, and may not be well informed about FH. Physicians and nurses may not be trained in the interpretation and communication of genetic test results, so it’s possible that your healthcare provider will also need some outside expertise to interpret your test results. You can search for a genetic counselor who specializes in cardiovascular genetics near you. In addition, some genetic testing companies offer genetic counseling as part of their service.

Who can order a genetic test?

A licensed healthcare provider can order a genetic test for FH once the person wishing to undergo genetic testing has decided to proceed with genetic testing. Not all healthcare providers may be comfortable or have the expertise for correctly ordering and interpreting the test. Some genetic testing companies have a healthcare professional who can authorize the test. It is recommended to seek a certified genetic counselor or knowledgable physician with experience with FH and genetic testing.

What labs conduct genetic testing for FH?

The FH Foundation recommends having a genetic test done by a Clinical Laboratory Improvement Amendments (CLIA) lab that offers an FH Panel (LDLR, APOB, PSCK9). Some labs may offer more comprehensive testing for other genes associated with cardiovascular disease. Labs may differ in their testing methodologies (affecting their ability to detect certain types of gene variants). Therefore, it is important to discuss these details with someone who has expertise with FH genetic testing (certified genetic counselor or knowledgable physician) to make sure the right test is ordered. They can determine if genetic testing for FH is the most appropriate genetic testing to order based on your personal and family history. There can be other nuances in genetic testing interpretation, including the possibility of identifying novel variants of unclear significance, which often require specialist interpretation.

Depending on the lab used, FH genetic testing results are often available within three to six weeks, and a report is sent to the ordering healthcare professional. After the results come back, a genetic counselor or knowledgable physician will notify the person and provide counseling based on the results, making sure that they understand the results as well as their options regarding management of their condition. This discussion should occur whether someone’s genetic testing results are positive or negative. There can be other nuances in genetic testing interpretation, including the possibility of identifying novel variants of unclear significance, which often require specialist interpretation.

Many labs will offer family screening for additional members at a reduced price within a certain timeframe. You can ask your genetic counselor for more details.

Do consumer or ancestry genetic tests work for FH?

There are clear differences between direct-to-consumer (DTC) ancestry testing compared to clinical-grade genetic testing. DTC tests may provide information on ancestry, traits and wellness, but do not provide the specific information needed to diagnose FH. Only CLIA certified laboratories should be used for FH genetic testing. The DTC tests do not fall under the same guidelines and use a limited technology that provides very limited information. For example, they may not test for the genes you’re most interested in – such as genes related to the entire LDL-receptor for FH. Often they provide you raw data, but don’t provide guidance regarding the results and what they may mean for you or your family.

Similarly, if you have ever had genetic testing for any other conditions, these tests likely did not look at the genes associated with FH. You should bring any genetic testing records to your provider so they can assess if you need additional testing ordered.

Does health insurance cover the cost of genetic testing for FH?

Health insurance plans may or may not cover the cost of genetic testing for FH. Please refer to your policy or call your health insurance provider for more information before you decide to go ahead with genetic testing. Many commercial genetic testing labs offer other billing options, financial assistance, or discounts in cases of financial need and/or when insurance is not willing to cover genetic testing. It’s a good idea to “shop around” to learn what your costs will be depending on the genetic testing company and your insurance coverage.