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18-Oct-2017 08:03

There is higher risk for prenatal testing which requires a sample from the amniotic fluid or chorionic villus during pregnancy.[9]Genetic testing for Mendelian disorders such as cystic fibrosis, Huntington's disease, familial breast cancer, and phenylketonuria, among others, was widely available prior to the genomic era.Even though the contribution of these types of association studies remains uncertain, it has been suggested that common genetic variants may contribute to common diseases, supporting the role for continued association studies.

Acquiring a sample for most tests is simple and low risk-- most require only a sample of blood, hair, or skin.[20]Two types: presymptomatic (eventual development of symptoms is certain when the gene mutation is present, e.g., Huntington disease) and predispositional (eventual development of symptoms is likely but not certain when the gene mutation is present, e.g., breast cancer).[20]This is another form of testing that is sure to become more common in the future.The proliferation of genetic tests has been greatly accelerated by the Human Genome Project over the last decade.

[1] Meanwhile, practicing physicians and health professionals need to be trained in the principles, applications, and the limitations of genomics and genomic medicine.[6] Genetic tests look for variations in a person's genes or changes in proteins coded for by specific genes.



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