PASADENA, Calif., May 16, 2018 /PRNewswire-USNewswire/ -- The FH Foundation, a leading research and advocacy organization,
"We are hopeful that genetic testing can accelerate cascade family screening to ensure more individuals with FH are identified so that treatment can begin earlier in life," said Samuel Gidding, M.D., principal investigator for the PAGENT Study and scientific advisory board member for the FH Foundation. "As we enter this new era of possibilities using precision medicine, we must understand perceptions surrounding genomic information."
FH is a global public health concern that affects over 30 million people worldwide. Less than 10 percent are currently diagnosed.i The Centers for Disease Control and Prevention has designated FH as a Tier 1 genomic application, recognizing the positive public health impact that can be made by leveraging cascade screening to ascertain genetic diagnosis.ii Cascade screening begins by identifying an individual with FH, called the proband, and conducting active cholesterol screening, genetic testing, or both for all potentially affected relatives. This cycle is repeated or cascaded for each relative diagnosed with FH, increasing the number of possible detected cases. According to an article published last year in JAMA Insights, cascade screening with genetic testing can cost-effectively reduce the burden of heart disease in this at-risk population through early diagnosis and treatment.iii
"At the FH Foundation, we are driven by our mission to find innovative ways to accelerate screening, diagnosis, and early treatment for individuals with familial hypercholesterolemia," said Katherine Wilemon, founder and CEO of the FH Foundation. "The PAGENT Study is a prime example of the significant steps the FH Foundation is taking to ensure individuals and their family members understand their increased risk for early heart disease."
"The U.S. health system has struggled to implement effective cascade screening to identify families with FH, missing an opportunity to reduce the burden of heart disease," said Jill Hagenkord, M.D., chief medical officer, Color. "We believe that the PAGENT Study, in collaboration with Color, will increase our understanding of cascade screening and can have a significant impact in reaching more at-risk family members."
About the PAGENT StudyParticipation in the PAGENT Study is available to individuals registered in the CASCADE FH Registry Patient Portal who have not undergone genetic testing for FH. Up to 125 participants will be randomly selected and offered sequencing through Color's Hereditary High Cholesterol Test, which analyzes three genes that account for the majority of FH cases and can increase a person's risk for coronary heart disease: LDLR, APOB, and PCSK9. If a causative gene variation is identified, up to five first-degree relatives will be offered complimentary sequencing of the gene variation to determine if they have inherited FH. The pre- and post-surveys by the FH Foundation will measure the affected individual and family member's perceptions around genetic testing and whether genetic testing increases participation in cascade screening. More information can be found on the CASCADE FH Registry Patient Portal.
About Familial Hypercholesterolemia (FH)FH is a common, life threatening, dominantly inherited genetic disorder. FH causes high LDL-C from birth and is the cause of 20 percent of early heart attacks (heart attacks that occur in the 20's, 30's and 40's). An estimated one in 250 Americans have FH, but 90 percent are undiagnosed. If left untreated, individuals with FH have a 20 times higher lifetime risk of heart disease than the general population.
About the FH FoundationThe mission of The FH Foundation, a patient-centric research and advocacy nonprofit organization, is to save lives by contributing to scientific research that leads to greater understanding and improved diagnosis and treatment of familial hypercholesterolemia worldwide. Please visit www.theFHfoundation.org for more information.
i Knowles J, et al. Reducing the burden of disease and death from familial hypercholesterolemia: A call to action. Am Heart J.2014;168:807-811.ii FH Genomics Application Toolkit. Centers for Disease Control and Prevention. 2014. https://www.cdc.gov/genomics/implementation/toolkit/fh_1.htm.iii Knowles JW, et al. Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing JAMA. 2017;318(4):381-382. doi:10.1001/jama.2017.8543
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SOURCE The FH Foundation
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