151670 - AJGP Clinical Challenge March 2019: Genomics

To provide guidance for the general practitioner in the management of genomic presentations.

Approximately 1–2% of couples have a 25% chance of having a child with an X-linked or recessive condition, and preconception and antenatal carrier screening is being increasingly offered. Screening can also occur within families when a disease-causing gene is identified in an individual; for example, sudden cardiac death in the young affects 1.3 per 100,000 people in Australia and New Zealand and is associated with a number of genetic conditions. Genetics can have a significant impact on the physiological processing of medications; for example, genetic variation in the cytochrome P450 class of enzymes results in an up to 100-fold variation in exposure to medications. Such information can be used to ensure that patients are receiving the medication and dosage that will benefit them most. 
It is important to consider the implications of genetic testing for risk-rated products such as life insurance, which may be affected by a positive result. 
References on file.