The ethical dilemma of genetic diagnoses on embryos for hereditary cancer pathologies ~ Dr. Giordano



Prenatal diagnoses allow us to determine or rule out the development of certain diseases before a child is born. In addition to the use of ultrasound, we can do pretty accurate gene tests when there is a history of severe hereditary disease, even cancer, in parents or family members.


Thanks to these tools, it is possible to detect gene defects, which could compromise the quality of life or survival of the fetus and the child. Detecting whether an embryo is affected or not by a hereditary disease, tumor predisposition, or chromosomal alterations, and intervening in the prenatal phase, raises a bitter debate: is it ethical to select a healthy embryo and discard a "sick" one?


For science, the classification of a "good quality" embryo means a healthy development of the fetus and avoiding a hereditary disease, even oncological, which can be transmitted to following generations. But how far can we go? While the interest of the parents is to carry out genetic investigations to know the probability of giving birth to a healthy child, on the other hand, several ethical implications arise when the embryo might not survive or transmit rare genetic diseases or cancer predisposition.


Based on individual events or personal stories, the choice between continuing or interrupting pregnancy with an unfortunate prenatal diagnosis clearly remains in the sphere of parental choice.


Having said that, the analysis of embryos able to detect genetic alterations can offer "important benefits" in preventing hereditary cancers, as is the case of BRCA 1/2 mutations, which predispose women carriers to the possibility of developing breast or ovarian cancer. This mutation confers a genetic predisposition to develop cancer with a 60/80% risk of becoming ill during life.


What is certain is the difficulty of parental decision for this complex matter involving ethical, emotional, religious, and philosophical aspects of enormous importance. When one parent is a carrier of a genetic mutation, and they have to choose what to do, what is right depends purely on the conscience and cultural background of those involved in this situation.


The task of genetics and gene testing is to highlight the possibility that hereditary diseases, chromosomal mutation, or forms of neoplasm might develop. This enables people directly involved to choose the path they believe is right based on the genetic information obtained.


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