Quick, concise information to help healthcare professionals make the right genomic decisions at each stage of a clinical pathway
Focused on the point of patient care, these short scenarios look at when to consider genomic testing and what you need to do.
Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine
Mosaicism – where only some of an individual’s cells have a specific variant – can arise during embryonic development or after birth. Rarely, mosaicism can occur when a variant arises in a germ cell precursor, meaning the variant may, or may not, be passed on to offspring.
A gene is a stretch of DNA containing a sequence (instruction) with a particular function, such as to make a specific protein.
Ribonucleic acid (RNA), like DNA, is a nucleic acid. In RNA, however, the sugar is ribose and the chemical base thymine (T) is replaced with uracil (U).
The 98% of the genome that does not code directly for proteins. Its function is not fully understood, but parts are involved in gene regulation and others are important for maintaining the structure of the genome.
A multifactorial condition is the result of multiple genetic and environmental factors interacting. In clinical practice, most conditions seen will fall under the umbrella term of multifactorial conditions.