ABSTRACT
The risk of acquiring (or being protected from) NCDs arises from the complex interplay between the environment that an individual lives in (e.g. work and living conditions) and an individual’s health behaviours (e.g. tobacco use, diet, physical activity) and genetic makeup. Unlike physical and behavioural characteristics, an individual’s germline genetic makeup does not change over time (and can be tested only once in an individual’s lifetime). Tests that assess an individual’s genetic makeup are increasingly available and often relatively inexpensive. There are currently only a few conditions where genetic markers (monogenic or polygenic) have critical implications for guiding NCD prevention and control. However, this field is evolving rapidly. This chapter describes the role of genetics in understanding better the aetiology of NCDs, supporting the molecular diagnosis of NCDs (e.g. familial hypercholesterolemia, BRCA gene for breast cancer, AFAP gene for colon cancer), predicting NCDs independently of behavioural and physiological risk factors (e.g. polygenic scores for CVD or type 2 diabetes) and optimizing NCD treatment (e.g. presence of pharmacogenes that help select or titrate medications). The chapter briefly describes the implications of integrating genomics into health care as well as the implications of genetic testing for individuals and their families.
