Reasons for Genetic Testing 

Health Reasons

• Disease Risk Assessment: Find out if you are at higher risk for conditions like cancer, heart disease, Alzheimer’s, and many others.
• Carrier Screening: Identifies if you carry genes for inherited diseases (like Cystic Fibrosis or Tay-Sachs) that you could pass on to your children.
• Diagnostic Testing: Genetic tests can help identify a specific disorder.
• Pharmacogenomics: Discovers how your genes affect how you respond to medications and minimises unwanted side effects.

Family Planning

• Carrier screening tests are genetic tests that identify if you carry a genetic variant for a particular inherited disorder. These tests are commonly offered to couples planning a pregnancy to understand their risk of having a child with a genetic condition. E.g. Cystic Fibrosis, Sickle Cell, Tay-Sachs, PKU and Spinal Muscular Atrophy.
• Fertility Testing can identify a genetic condition that can impact on male and female fertility.
  • Y-chromosome Microdeletions are the second-most common cause of male infertility.  Specific gene deletions are screened that are directly linked to abnormal or no sperm production.

Prenatal & Newborn Screening

• Prenatal screening tests aims to detect conditions like genetic abnormalities or birth defects in a baby early in pregnancy.
  • Non-invasive prenatal testing (NIPT) around 11-13 weeks pregnant screens mum’s blood for chromosome abnormalities such as Down’s Syndrome. 
• Newborn screening tests check for various conditions in newborns to enable possible early treatment and intervention.