I think it is a very interesting and good quality study. It is in line with previous studies published in neonatal and paediatric intensive care units, which have shown that around 50% of neonatal and paediatric patients admitted to intensive care with suspected monogenic conditions [diseases caused by changes in a single gene] are diagnosed after exome or whole genome studies.  

What is novel to me is that it emphasises post-mortem studies in which the diagnosis is changed in a significant percentage of patients, placing genetic causes as the main cause of mortality in that cohort. This can be of great use in advising families and preventing new cases in their future offspring, as well as helping families to understand why their child has died.  

In Spain we are currently an anomaly in Europe, as we are the only European country in which the speciality of Medical Genetics is not officially recognised, which is an obvious handicap in the care of our patients with suspected genetic disease.  

The Spanish Association of Human Genetics has been calling for this speciality for years, as it has been proven that the performance of genetic diagnostic tests is increased when a clinical geneticist is involved in the diagnostic process, avoiding unnecessary tests and often helping to guide treatment objectives towards palliative care in the case of incurable diseases or towards specific treatments in the case of diseases for which there is a treatment. This not only reduces economic costs, but also reduces the suffering of patients and their families and can help them to obtain genetic counselling.  

The main limitation of the study for me is that it is a single-centre study, so the results may not be extrapolable to other settings.