The Genomics of Cardiac Disease Risk

Who knows how much investment is going into finding the genes behind various chronic diseases?  Fixing what is broken always seems to take more energy and effort than preventing the disease damage in the first place… an ounce of prevention is worth a pound of cure.  As a listened to a genomics podcast by Illumina called, Illumina Genomics on iTunes, Dr. Guillaume Pare’ addressed the genetic risk factors for familial heart disease.  He noted that while 1 in 250 individuals have a genetic condition called familial hypercholesterolemia (which increases heart attack risk), maybe 1 in 50 have what is called a polygenic increased risk of heart disease.

            Their team uses computational methods of the digital age to screen vast numbers of potential genes for their relationship to higher risks of early heart attacks.  At the current stage of research, they used a list of 192 genes to identify individuals who were at an even higher risk of early disease.  When the number of genes from this list were analyzed by how many SNPs (single nucleotide polymorphisms, single letter changes in the DNA) they possessed, individuals with a 6 fold increased risk of heart disease were found.  Individuals with the well-known familial hypercholesterolemia only have a 4 fold increased risk.  When they evaluated the frequency of individuals with a sufficiently abnormal polygenic panel in the normal population, they were surprised to find that approximately 1 out of every 50 people had an increased risk by this criteria. 

            Dr. Pare’ also speculated that one day we may see this genetic testing as part of a patient’s regular physical, especially when a family history of heart disease is noted.  We currently have some ability in 23 and Me reports and other more expensive genetic testing to peak into this field, but hopefully the prohibitive costs will lower enough that it will be affordable to more patients.  Besides helping the chronically ill patients to regain a healthier more abundant life, we can also help patients keep the healthier more abundant life they have and avoid devastating events like heart attacks. 

Illumina Genomics podcast website:

https://www.illumina.com/science/genomics-podcast.html

Episode 23

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