Molecular diagnostics as we know it today originated approximately 150 years ago with the initial concept of genetics. The first landmark discovery regarding units of inheritance contained in genes and alleles was published by Mendel in 1866. Table 1 lists some of the landmarks of genetic discovery and testing.
Table 1. Historical Landmarks in Molecular Diagnostics.| Year | Individual | Contribution |
| 1866 | Gregor Mendel | Concept of genes and alleles |
| 1910 | Thomas Morgan | Units of heredity in chromosomes |
| 1928 | Frederick Griffith | Experimentation with mice enables others to point out DNA as the molecule of inheritance |
| 1944 | Oswald Avery, Colin MacLeod, Maclyn McCarty | Landmark paper on the transforming ability of DNA |
| 1951–1953 | Rosalind Franklin | Crystallographic portraits of DNA, showing its helical structure |
| 1953 | James Watson and Francis Crick | Using Franklin's DNA portraits, suggest the DNA molecule is made up of two chains of nucleotides, each in a helix, with one going up and the other going down. Further suggest that during cell division, the two strands separate and on each half, a new half is built, identical to the separated half so that the structure is maintained. |
| 1957 | Meselson and Stahl | Confirm that DNA is replicated semi-conservatively, i.e., each strand of DNA serves as a template to make a new, complementary strand. |
| 1975 | Edward Southern | Developed the Southern blot technique for the detection of specific sequences among DNA fragments separated by gel electrophoresis. |
| 1977 | Walter Gilbert and Frederick Sanger | Determination of base sequences in nucleic acids |
| 1985 | Kary Mullis, et al | Introduction of polymerase chain reaction (PCR) method |
| 1996 | Patrick Brown, Mark Schena, et al | DNA microarray |
| 2003 | International scientific researchers | Completion of Human Genome Project |
