Test to Detect Risk for Early Heart Attack Offered By Correlagen Diagnostics
Correlagen Diagnostics, Inc., a leading developer of innovative molecular diagnostics, today announced the availability of a test that may help prevent death from early heart attacks. Six hundred thousand Americans have a genetic cause of high cholesterol that increases their risk of suffering heart attacks at a very young age up to 125 fold. With proper diagnosis and treatment, using a combination of targeted genetic testing and cholesterol-lowering drug therapy, heart attacks could be prevented in 200,000, and deaths in 50,000, of these individuals.
This genetic form of very high cholesterol is called “familial hypercholesterolemia” (FH). FH occurs in 1 in 500 individuals and is inherited in a dominant manner — i.e., about half of children with one affected parent will also be affected. By causing childhood-onset atherosclerosis and build-up of plaques in the coronary arteries, dominantly inherited FH can lead to heart attacks in individuals as young as 21 years old. Until now, genetic testing to identify quickly and reliably those who are at risk has not been widely available. The Correlagen website, located at www.correlagen.com, now offers information about FH, the blood test, and how patients can work with their doctors to order testing from Correlagen.
“In FH patients, the atherosclerosis that causes heart disease can begin in children as young as 10,” said Dr. Paul Hopkins, Director of MEDPED in the US, a nonprofit organization promoting early diagnosis of inherited cholesterol disorders, and a Professor of Internal Medicine at the University of Utah School of Medicine. “While studies have shown that atherosclerosis from FH, if detected early enough, can be successfully treated with drugs such as statins, most patients with FH are not diagnosed until middle age.”
The challenge is that children are not routinely screened for high cholesterol and that cholesterol screening tests, even when combined with family history information, lead to misdiagnosis in 10-20% of patients.
The LDLR (low density lipoprotein receptor) gene test offered by Correlagen can diagnose FH and can identify a mutation in family members who may not have abnormal cholesterol levels. “For families that have experienced the trauma of early heart attack, genetic testing can literally mean the difference between life and death,” said Dr. David Margulies, co-founder and CEO of Correlagen. “Testing for LDLR mutations allows these families to determine quickly who is at risk. Once the definitive diagnosis of familial hypercholesterolemia has been made in a child, long term treatment can be initiated with confidence, knowing that treatment is highly effective, the risks of therapy are small, and the consequences of failure to treat are dire.”
Dr. Hopkins and other experts consider genetic testing the “gold standard” for diagnosis of FH. Recognizing the tremendous public health benefit of identifying FH early, countries such as the Netherlands and Norway have successfully implemented nationwide FH genetic cascade-screening programs. These programs test families by ‘radiating’ from a known FH patient outward through his or her family. Similar programs are in place in Denmark, France, the Czech Republic, Italy, and Spain. These programs have shown that family-based testing for FH leads to better treatment and fewer deaths from heart attack.
In the US, innovative self-insured corporations are beginning to recognize the health and economic benefits that LDLR gene testing of high-risk individuals and their families can bring over the long term. Cerner Corporation, the leading US supplier of healthcare information technology solutions that optimize clinical and financial outcomes, will conduct a pilot program with Correlagen in 2007.
“At Cerner, we pride ourselves on offering our associates access to contemporary healthcare options as part of our comprehensive benefits program,” said Julie Wilson, chief people officer and vice president of Human Resources – Cerner. “The potentially life-saving information that can result from Correlagen’s LDLR test fits with Cerner’s broader initiatives to include predictive science into health benefits and to provide the option for a long-term view of the health of our associates and their families.”
Physicians may order the LDLR Sequencing Test directly from Correlagen Diagnostics. Consumers may request information for themselves, other family members, and for their physicians from the Correlagen web site. For more information about ordering this test or one of Correlagen’s other tests in the fields of immunology, cardiology, or ophthalmology, please visit www.correlagen.com.
About Correlagen
Correlagen Diagnostics, Inc. develops and commercializes genetic testing services using a high throughput automated approach that incorporates sequencing, variant analysis, and results reporting. By focusing on Genes That Matter™ — where variation is correlated with disease and where testing would impact diagnosis and treatment–, Correlagen is accelerating and increasing the use of genetic testing in clinical practice. Genes That Matter is a trademark of Correlagen. To learn more, please visit www.correlagen.com.