Journal des syndromes génétiques et de la thérapie génique
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Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases

Giulia Melloni, Maria Francesca Bedeschi, Claudia Cesaretti, Donatella Milani, Luisa Ronzoni, Luisa Ronzoni, Barbara Gentilin, Vera Bianchi, Federica Natacci and Faustina Lalatta

Clinical genetics is the discipline which deals with hereditary diseases and implies a strong diagnostic approach without which all information conveyed by the counselling process has insecure foundation and the estimation of recurrence risk within the family may be misinterpreted.

The ideal time for having a genetic counselling is before pregnancy. In this case the subsequent genetic evaluation and counselling may lead to the definition of a reproductive risk and thus to an early, even prenatal diagnosis in the offspring. However in some cases genetic conditions are under-recognized in the adult age and people are not referred to genetic services. This happens because of a variety of reasons both related to the health professionals (non-habit to the pre-conceptional genetic counselling, lack of attention/information on genetic themes, diagnostic difficulties related to the variability of gene expression, incomplete penetrance and late onset conditions) and to the patient’s psychological status, for example denial mechanisms.

Six cases are presented in which a correct diagnosis in one parent was reached after the identification of a rare disease in the child with severe psychological and social consequences.

Obviously the lack of the correct diagnosis in the parent implied that he/she was not only uninformed about the presence of the increased reproductive risk, but also unaware of the clinical variability of the condition. Anger and frustration was present in all affected parents asking why their family doctors never suspected the condition which, afterwards, seemed quite obvious. Legal actions were started in two out of six cases.

Establishing the correct diagnosis, or at least the suspicion of a genetic disease, is therefore a priority that may be not considered an exclusive responsibility of the geneticist, but ideally involves other medical figures, for example primary care physician, pediatricians or other medical specialists who see a patient with a condition.