Genetic testing for gene variants associated with familial hypercholesterolemia (FH) can provide important medical information for individuals as well as their family members who may be at risk for FH.

Some benefits of genetic testing for FH:

  • Confirmation of a clinical diagnosis of FH, especially in cases where it is not clear whether the person has FH or not.
  • Provides more information about one’s risk or diagnosis, since not all individuals with FH present the same.
  • Often results in initiation and intensification of therapy by a healthcare provider. Studies have also shown that individuals with FH are more willing to start, intensify or continue taking prescribed medications when given genetic confirmation.
  • Provides information regarding why a healthy lifestyle and diet have not been able to control cholesterol levels on their own.
  • Helps other family members to be screened.
  • Determines whether or not FH has been passed down to a child, since everyone with FH has a 50% chance of doing so.

Genetic testing is not right for everyone, and the test itself has limitations including:

  • It does not always provide a simple “yes” or “no” answer about FH.
  • A negative test result does not always mean someone does not have FH—it simply means that their genetic cause(s) were not identified with current knowledge and genetic testing technologies. About 30-40% of people with clinically diagnosed FH may test negative. These results may be “false negatives” or the person might have a gene variant that has not yet been identified to be pathogenic, or disease causing. They may also have polygenic hypercholesterolemia.
  • Testing can be expensive if not covered by insurance, although financial aid and low-cost options may be available.
  • Privacy and discrimination concerns. While the Genetic Information Non-discrimination Act (GINA) protects most people from discrimination when it comes to employment or health insurance coverage, it does not protect everyone or address other kinds of insurance, such as life, disability, or long-term care insurance.

You should understand these limitations and carefully consider what it might mean for you and your children before you undergo genetic testing. These concerns may also apply  for other kinds of test results such as lipid panels.

An expert such as a certified genetic counselor or knowledgeable physician can explain the benefits and limitations of genetic testing and help you determine whether or not it is appropriate for you. In addition, the genetic counselor or healthcare provider can point you to genetic testing companies that offer an FH panel.

Genetic Testing, Privacy, and Discrimination Protection

Your genetic information cannot be used in employment decisions or to determine eligibility for health insurance, thanks to the Genetic Information Nondiscrimination Act of 2008 (GINA). However, GINA does not apply to companies with fewer than 15 employees, to families covered by military health services, the Veterans Administration, Indian Health Services, or to decisions related to life, long-term care, or disability insurance. Federal employees covered by the Federal Employees Health Benefit Plan are not covered by GINA, but are protected by an Executive Order. Any of these protections can be reversed if GINA or the Executive Order are reversed. If you feel you have been discriminated against, your option is to complain to the State Insurance Commissioner for health insurance or the Equal Employment Opportunity Commission for employment discrimination. Learn more about GINA and protection against genetic discrimination.

Learn more about your rights.