While sharing the same techniques as the field at large, diagnostic mo
lecular genetics is unique among the subdisciplines of molecular patho
logy in many of its aspects, from sample collection to ethical implica
tions of the test results obtained. Yet, despite its many challenges,
this branch of DNA diagnostics has already pervaded the practice of me
dical genetics to an extent unmatched in any other clinical specialty.
Genetic disease also presents the most immediately obvious opportunit
ies for extension from DNA-based diagnosis to DNA-based therapy.