The FH Foundation is pleased to announce that the Journal of the American College of Cardiology has just published a consensus statement on the application of genetic testing in diagnosing familial hypercholesterolemia (FH). A culmination of a two-year effort led by the FH Foundation and authored by an international panel of 30 cardiovascular, lipid, genetics and advocacy experts, the statement recommends that genetic testing be offered to diagnose both individuals with FH and their relatives.
Lack of an accurate FH diagnosis is a pressing public health concern – leaving over 30 million people worldwide at great risk for early heart disease. Genetic testing can accelerate the identification of these individuals and enable the earlier initiation of therapies.
Although FH can be diagnosed clinically, there are additional benefits of genetic testing. Studies show that individuals who receive genetic testing are more likely to initiate therapy, more likely to stay on therapy, and over time, have lower LDL levels. Genetic testing can also provide important information to inform risk and prognosis and influence the choice of potential therapies.
Importantly, genetic testing can improve our ability to screen potentially affected family members. If we can identify a genetic variant in a family, that variant can then be screened for in other family members. The earlier we identify FH individuals and intervene, the more likely it is we can prevent them from developing heart disease, even beginning treatment in childhood.
Genetic testing isn’t without its limitations. Today, we only understand part of the genetics behind FH. We would expect a genetic test to be positive in 60-80% of those with clinically defined FH. That means up to 30-40% of individuals with FH will not have a positive genetic test.
In addition, the statement recommends that all individuals receive pre- and post- genetic counseling, which will outline the benefits and limitations of genetic testing. Genetic counselors and physicians ordering genetic tests should ensure their patients have considered the potential impact of this information on one’s ability to obtain life and long-term care insurance, especially when children are being tested. As the field of genomics continues to offer more opportunities to prevent disease and death, we need to advocate on behalf of all individual who seek to understand their risk for genetic conditions.
Genetic Testing FAQ
We have added background on genetic testing, benefits and limitations, and answered frequently asked questions on our Web site.
Importance of Genetic Counseling
The consensus statement recommends both pre- and post- genetic counseling so that individuals understand both the benefits and limitations of genetic testing. Hear about the important role that genetic counselors play.
Where do we go from here?
Genetic testing is complicated and to date, policy has not caught up with the science. As genetics and technology evolve, it is critical we work together to ensure that individuals with FH and their family members are protected from discrimination.
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. It is important that individuals weigh all of these considerations prior to getting genetic testing.
The FH Foundation firmly believes that individuals with FH and other genetic conditions should not be penalized for obtaining genetic health information that could result in better treatment and outcomes. Prevention of early heart disease through the application of tools such as genetic testing for FH must be a priority.
In January, the FH Foundation visited Capitol Hill with 30 advocates to ensure that the protections from GINA are secure in employee wellness programs. We will continue to advocate for further protections for insurance.
Thank you to the authors, expert panel, donors, advocates and supporters, CASCADE FH Registry sites and participants for making this work possible!
The FH Foundation is dedicated to continuing the critical work needed to raise awareness and save lives by increasing the rate of early diagnosis and encouraging proactive treatment. Support our work by making a tax-deductible donation today.