To address the urgent need for early identification of people with FD, the ThinkGenetic Foundation teamed up with genetic counselors, statisticians and physicians at the Emory University School of Medicine, and ThinkGenetic, Inc., to create the FDrisk which is an accurate, validated, clinician-friendly, online scoring tool for predicting an individual’s risk of having FD. This project is funded with an unrestricted grant from Chiesi USA.
The risk score is generated based on identification of twenty-nine possible signs and symptoms of FD. Patients with risk scores at or above 50% should be categorized as “at-risk” for FD and be sent for confirmatory testing through sponsored testing programs or standard laboratories. Anyone with a family history of FD should also be sent for testing no matter the resulting risk score.
Fabry disease is a progressive genetic condition that causes multiple health problems. Fabry disease occurs when a person’s body does not make enough of an enzyme called alpha-galactosidase A (alpha-Gal) due to changes or mutations in the GLA gene. When alpha-gal is not working, substances called glycolipids build up in the body’s lysosomes (the “recycling centers” of the cell). This storage leads to narrowed blood vessels, inflammation, and health problems all over the body, particularly in the skin, kidneys, heart, brain, intestines and nerves. Learn more about Fabry disease.
|Sponsor Program||The AAKP Fabry Disease Diagnostic Testing and Education Project||The Lantern Project||Detect LSDs program|
|Sponsor||Prevention Genetics||Perkin Elmer Genomics||Invitate|
|Details||In partnership with the American Association of Kidney Patients (AAKP) and Emory University, this program provides complimentary Clinical DNA testing for this rare genetic disease can help patients receive an early diagnosis and access to treatment. This AAKP program is supported by educational donations from Amicus Therapeutics and Sanofi-Genzyme, Inc.||The Lantern Project consists of α-galactosidase A enzyme assay with reflex to GLA sequencing if deficient in males, GLA sequencing in females, and quantitation of lyso-Gl3 for both males and females.||To qualify for no-charge testing through the Invitae Detect LSDs program, individuals must be located in the US or Canada and must be suspected of having an LSD based on criteria.|
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. PMID: 29530533.
Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18.
Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR,Wilcox WR, on behalf of the Fabry Pediatric Expert Panel. The management and treatment of children with Fabry disease: A United States-based perspective. Mol Genet Metab. 2016 Feb;117(2):104-13.doi: 10.1016/j.ymgme.2015.10.007. Epub 2015 Oct 23.
Disclaimer: The ThinkGenetic Foundation score risk assessment tool for estimating risk of Fabry disease was devised for use by health professionals. It should be noted that many features as described are best recognized by specialist medical/genetics professionals since underestimation of risk may occur if the tool is not accurately completed. The results should be interpreted in the light of personal history, family history and physical examination performed by a medical/genetics professional. Patients may identify a genetic counselor near them by visiting the National Society of Genetic Counselors’ website www.nsgc.org.