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Genetic counselling in the era of genomic medicine
Author(s) -
Weil Jon
Publication year - 2002
Publication title -
embo reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.584
H-Index - 184
eISSN - 1469-3178
pISSN - 1469-221X
DOI - 10.1093/embo-reports/kvf144
Subject(s) - genetic counseling , anxiety , disease , genomic medicine , genetic testing , psychiatry , psychoanalysis , psychology , medicine , genetics , biology , pathology , computational biology
Birth defects and familial diseases have caused concern and anxiety throughout mankind's existence. Plentiful historical and contemporary examples involve the stigmatisation of affected individuals and families. Many cultures have practices and taboos that have arisen from the desire to explain and prevent such disorders. Modern science brings a growing wealth of knowledge and techniques to the diagnosis, treatment and prevention of these disorders. However, a severe birth defect or an inherited genetic disorder still creates a heavy emotional, social and financial burden not only for those directly affected, but also for their families. And while modern research has made large strides towards identifying many disease‐causing alleles, patients' fears and anxieties about their future and the future of their children remain. This is not limited to classical inherited disorders. As researchers uncover the genetic components of multi‐factorial diseases, many more people will be found to have mutations that put them and probably their children at risk.The diagnosis of a genetic disorder in a newborn child, the identification of a mutation conferring an elevated risk of cancer, a positive result from a prenatal genetic screen for Down syndrome—all these scenarios confront patients with complex information to be understood and assimilated, and with an array of conflicting emotions. They require difficult decisions that involve many technical, ethical and highly personal questions (Weil, 2000). Genetic counselling can help in this process by offering various services within a clinical setting. These professionals assist patients in addressing the scientific and emotional issues that arise in such situations and help them make informed decisions based on their own values and individual circumstances (Walker, 1998).Genetic counselling, along with many other aspects of medicine and health care, must keep pace with radical new developments in biomedical research. Building on the Human Genome Project, scientists are advancing …