Genetic Screening

Genetic screening is a type of medical test that identifies changes in chromosomes, genes, or proteins.
It can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.

Each test serves a different purpose:
- Prenatal Screening: Performed during pregnancy to assess the health of a baby. Procedures include amniocentesis and chorionic villus sampling (CVS).
- Newborn Screening: All babies are screened for certain genetic, metabolic, and functional disorders at birth.
- Carrier Screening: Identifies people who carry one copy of a gene mutation that could cause a genetic disorder in their children.
- Predictive and Presymptomatic Testing: Identifies gene mutations that increase the risk of conditions such as breast cancer or Huntington’s disease.

Can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care.
Can identify a genetic disorder early, allowing for early intervention and management, which can improve quality of life.

False positives and false negatives can occur, causing unnecessary worry or a false sense of security.
May create anxiety about a potential health problem that may never develop.
Some tests can only identify a risk, but cannot predict the certainty of developing the disorder.

The use of genetic screening raises several ethical issues, such as the potential for discrimination and stigmatization based on genetics.
There are questions about the appropriate use of this information, including who should have access to your genetic data and how it should be used.
It is important to get professional genetic counselling before and after having genetic screening to understand the potential implications of the results.

Genetic counsellors assist in decision making and support individuals and families affected by, or at risk of, conditions with a genetic component.
It is important to communicate results accurately and in a way that people understand, to minimise potential harm and distress.