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Genetic and Genomic Taxonomy of Human Disease 

Genetic and Genomic Taxonomy of Human Disease
Chapter:
Genetic and Genomic Taxonomy of Human Disease
Author(s):

Dhavendra Kumar

DOI:
10.1093/med/9780199896028.003.0020
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date: 30 October 2020

Traditionally, genetic diseases are classified as chromosomal (numerical or structural), Mendelian or single-gene disorders, multifactorial/polygenic complex diseases or congenital anomalies and diseases associated with specific mitochondrial gene mutations. Apart from chromosomal disorders, essentially all genetic disorders result from some form of alteration or mutation occurring in a specific gene (single gene diseases), few selected biologically related genes (oligogenic) or involving multiple loci spread across the human genome (polygenic disorders). The major impact of chromosomal disorders occurs before birth and carries a serious health burden throughout childhood and during the early years of life. On the other hand single gene diseases can pose a real medical and health burden from the perinatal period to adult age with a peak around mid-childhood. In contrast, the polygenic/multifactorial diseases tend to present late, except for developmental anomalies that will require active multi-disciplinary care during early life. In addition, several apparently genetic disorders do not conform to traditional genetic pattern and are preferably assigned ‘diseases of non-traditional inheritance’. Examples include genetic imprinting (epigenetic) disorders, disorders of genome architecture (copy number changes- deletion, duplications, insertions) and triplet (or more) nucleotide repeats. With the rapid advances and new developments in DNA/RNA sequencing, enormous data is emerging that could have impact in the clinical phenotype interpretation. In brief, genetic and genomic applications have provided with a new taxonomy for human disease.

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