If all known Mendelian recessive genetic diseases are taken into consideration individually, their prevalence seems to be relatively low to cause any special concerns, except for some specific ones such as Thalassaemias, Cystic Fibrosis, Deafness, SMA etc. On the other hand their combined overall prevalence appears to affect a substantial proportion of our population. According to WHO (World Health Organization), the overall frequency of this type of diseases is 1% in newborns, worldwide. Moreover, hereditary diseases are causative for 20% of fetal mortality and approximately 18% of childhood morbidity, while recent publications show that more than half of future parents are mutation carriers of a (severe or less severe) recessively inherited genetic condition.
Moreover, there are many cases where a patient receives a diagnosis linked to a hereditary disorder, based on clinical criteria and perhaps different types of lab and/or imaging testing. However, the genetic cause is not defined, meaning that causative genetic alterations (mutations) as well as the related gene(s) are not determined. Without this knowledge, in some cases, the identification of other high risk family members and effective family planning are not feasible.
Science Labs, in collaboration with SOPHiA GENETICS®, has developed a molecular genetics mutation carrier test, recommended to be applied prior to a spontaneous or IVF pregnancy (preconception), which may reveal the probability of a couple giving birth to a severely affected child. If the test comes out positive, appropriate actions may be taken in favor of baring a healthy child.