[Pre-symptomatic diagnosis of severe hereditary diseases with late onset in Lebanon: a choice or a necessity?].
Progress achieved in the field of molecular genetics has opened the door to pre-symptomatic diagnosis tests of several severe hereditary disease, a majority of which are dominant and appear later in life. Given the importance of diagnosis in some of the cases where medical supervision and prevention are possible, there are a number of ethical dilemmas with regards to most of these diseases that, unfortunately, do not have a cure or any preventive treatment available. Above and beyond the capacity for medical care provision, there is a very high level of pressure and anxiety felt by every member of a family who has someone affected by one of these diseases in that they might be a carrier of a mutated gene which could be the cause or source of illness. They carry the burden of uncertainty that they may have already transmitted this gene or could give it to any of their children, and often there is also a significant level of guilt when one is the carrier but not to be affected by the disease itself. More and more frequently in these types of cases, there is a strong desire to know--in order to better organise and plan one's life and that of one's potential future family in the instance where one wishes to found one. This article discusses these problems based upon the consideration of four examples of such diseases with late onset: Huntington's disease, the common forms of thyroid cancer, the familiar forms of a predisposition to breast and ovarian cancer, and von Hippel-Lindau syndrome. However, regardless of the type of disease, the decision to take a genetic test is solely the choice of the individual in question, and the person should be accompanied and guided in his or her reflection by a multi-disciplinary team who can advise him or her and initiate useful deliberations on the various possibilities, their advantages and their disadvantages.
Université Saint Joseph, Faculté de Médecine, Unité de Génétique Médicale, BP 11-5076 Riad El Solh, Beyrouth 1107 2180, Liban.
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Medlej-Hashim
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Mégarbané
D017668:Age of Onset; D003937:Diagnosis, Differential; D004992:Ethics, Medical; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007861:Lebanon; D014342:Truth Disclosure