Genetic Screening

Genetic Screening

Introduction to 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.

Types of Genetic Screening

  • 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.

Benefits of Genetic Screening

  • 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.

Risks and Limitations

  • 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.

Ethical Considerations

  • 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.

Communicating Genetic Risk

  • 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.