Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders

摘要

Background and purposeDuring the years prior to the turn of the century, scientific and medical attention for genetic disorders was mainly focused on understanding rare single-gene disorders, such as Huntington's disease, Duchenne muscular dystrophy, and cystic fibrosis (CF), as well as chromosomal abnormalities. The medical specialty of clinical genetics was established in the 1980s and 1990s in many European countries to diagnose these kinds of rare disorders and to counsel patients and families.In recent years, the attention of the genomics and genetics research community has shifted toward understanding the basis of common complex disorders. Common diseases are diseases frequently encountered in health care. Some cases of common disorders are characterized by a strong influence of germline mutations in a single gene; these will be referred to as 'monogenic subtypes'. In many cases common disorders have a multifactorial etiology: they are caused by several genes and environmental factors, involving gene-gene and/or gene-environment interactions.