Clinical utility of exome sequencing in childhood heart failure



Last week I published an article on this same blog entitled “Advances in predictive medicine” where I talked about how research in the field of genetics is advancing and how we can benefit, thanks to new information technologies, from new research. and studies to improve our own health and avoid developing some diseases.


In this post I want to talk about the article «Clinical utility of exome sequencing in infantile heart failure«, published in the journal Nature.


What is pediatric cardiomyopathy?

Since I’m not a doctor, I’m a telecom worker, I can’t define exactly what it is, but I can search (what if I know how to do it online) for a definition that I myself am capable of understanding. I attach the definition that I have taken from the article «Cardiomyopathies in pediatric patients«:


Childhood cardiomyopathy is a rare but sometimes fatal myocardial disease that affects the pediatric population. Cardiomyopathy can occur in children of any age, and is a common cause of heart failure and heart transplantation in children.


The purpose of the study is the following:


“Pediatric cardiomyopathy is rare, has a wide differential diagnosis, results in high morbidity and mortality, and has suboptimal diagnostic yield using next-generation sequencing panels. Exome sequencing has reported diagnostic yields ranging from 30% to 57% for neonates in intensive care units. The objective was to characterize the clinical utility of exome sequencing in childhood heart failure.


There are many diseases that knowing the exome (that part of the genome that we know how to interpret) we can avoid or minimize their effects, thanks to predictive medicine. Research by research and study by study, the exome is becoming broader, because there is more knowledge about the genome and we also have more tools to avoid or minimize the effects of many diseases.


The study conclusions are very clear:


“Given the wide differential diagnosis and critical condition of infants with heart failure, rapid exome sequencing provides timely diagnoses, changes medical treatment, and should be the first-tier molecular test.”


Thanks to exome sequencing and therefore the detection of this disease, medical treatment can be changed to do everything possible to prevent the death of the baby.


This study is a concrete example of what genetic analysis can do for us. Thanks to information technology, and I know a “little bit” more about this than genetics, we can benefit from the new research that is being published, since once we have our exome/genome sequenced, we can pass said genetic data through the new algorithms corrected with the new research so that genetic counselors can advise the most appropriate measures, if necessary.


In my case, as I have already recounted on numerous occasions, I have performed a nutrigenetic profile analysis to avoid recovering the 57 kilos that I have lost. If in a few months some research comes out where it is said that one of my polymorphisms implies that if I don’t change my eating habits or of some kind I may more likely develop some kind of disease, I want to know so that I can act accordingly.


This is already possible in medmesafe and soon we will incorporate new genetic analyzes that will allow us to expand the information that one can have of his or her genome, with the new advances in recent months. All the information from these analyzes will be published on social networks, for all those who are interested.


Carlos Martín, CTO of medmesafe






Project manager of the architecture service in SEPE Central Services - Procesia WEB and API architecture service coordinator - INECO Former CTO - medmesafe