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Dear Editor:
The findings of the Personal Genome Project (PGP) are ambiguous because they only tell part of the story of genetic disease. It is common to use the words genetic and inherited interchangeably, however, there are two major components to genetic disease. The first is inherited genes, exhaustively examined in the PGP using whole genome sequencing (WGS), and second, more importantly, is acquired (non-inherited) genetic somatic mutations. In the dividing cells of the body (somatic) DNA replication is imperfect and results in random mutations, which are so common that fetal neurons contain 200-400 somatic mutations per cell by 15-21 weeks post-conception(1). No two cells in our body are genetically identical, and the impact and complexity of this mosaicism on the phenotypic expression of disease is underestimated in general (2) and unaccounted for in the PGP.Many of the common diseases that our patients are concerned about are sporadic and non-inherited genetic disorders. Cancer, and benign tumors, is a disease of acquired mutations; sporadic cancer requires at least two somatic mutations in a single cell (clone). Individuals with an inherited familial mutation, e.g. BRCA, also need an additional somatic mutation to develop cancer. Clonal mutations resulting in proteinopathies, e.g. antibodies and T-cell receptors, can lead to auto-immune disorders such as Type I diabetes, multiple sclerosis, and rheumatoid arthritis. Neurodegenerative proteinopathie...
Show MoreCompeting Interests: None declared.
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