Introduction to molecular and clinical genetics

The quest to understand the relationship between phenotypes and genetic traits has been a paramount theme throughout the history of biology. The days of Mendelʹs pea pods have been replaced with 21st century genetic technology such as gene chips, automated sequencing and a knowledge of the human genome down to the individual base-pairs. The goals of genetics as a field, however, remain largely the same and include attempts to uncover the genetic basis of disease, with the intention of developing improved diagnostics and therapeutics. Our goal in this review is to provide an introduction to molecular and clinical genetics to facilitate comprehension of the concepts and terms that are discussed in this issue of Best Practice & Research Clinical Anaesthesiology. We will focus on the topics of genotype and phenotype, initially by examining the different patterns of inheritance, then follow with discussions on the methodologies used to identify the genetic basis of disease and the role of genetics as applied directly to clinical medicine.