Genetic Testing

What is Genetic Testing?

Genetic testing involves analysing a person’s DNA to identify changes (mutations or variants) in genes or chromosomes. These changes may:

• Confirm a diagnosis: Identify the cause of symptoms that may be genetic
• Assess risk: Determine the likelihood of developing certain inherited conditions
• Guide treatment: Assist in selecting personalised treatments or medications
• Support family planning: Identify the risk of passing a condition to children

In fertility care, genetic testing is often focused on identifying inherited conditions that could affect a pregnancy or future child.

Who is Suitable for Genetic Testing?

Genetic testing may be recommended for:

• Couples planning pregnancy: Particularly for reproductive carrier screening
• Individuals with a family history: Of inherited disorders
• Couples with recurrent pregnancy loss: To assess chromosomal causes
• Unexplained infertility: Where genetic factors may play a role
• Previous child with a genetic condition: To assess recurrence risk
• Advanced maternal age: Increased risk of chromosomal abnormalities
• Known genetic condition in one partner: To assess transmission risk

Carrier screening is now increasingly recommended for all couples planning pregnancy, regardless of ethnicity or family history.

Benefits of Genetic Testing

Genetic testing provides valuable information that can guide medical and reproductive decisions.

• Accurate diagnosis: Reduces uncertainty and unnecessary investigations
• Informed reproductive choices: Particularly through carrier screening and PGT
• Early intervention: For conditions that benefit from early management
• Reduced risk of severe inherited disorders: Through embryo testing in IVF
• Personalised care: Tailored treatment and monitoring plans
• Reassurance: When results are normal

What to Do Before Genetic Testing?

Consultation and Genetic Counselling

A detailed consultation is essential. This includes:

• Review of personal and family medical history
• Discussion of the purpose of testing
• Explanation of possible results and limitations
• Understanding emotional and ethical considerations

Genetic counselling is particularly important before PGT or when carrier screening identifies both partners as carriers.

Understanding the Test

Not all tests detect all conditions. It is important to understand:

• What conditions are included
• Test accuracy and limitations
• Possibility of uncertain results

Consent and Costs

You will be asked to provide informed consent. Costs vary depending on the type of test. Some tests may be partially covered by Medicare when specific criteria are met, while others are privately funded.

Genetic Testing Procedure

Sample Collection

Most genetic tests require:

• Blood sample
• Saliva sample

For PGT, a few cells are biopsied from the embryo during IVF.

Laboratory Analysis

Samples are analysed using advanced DNA sequencing techniques to identify genetic variants.

Interpretation

Specialists and genetic counsellors interpret results to determine their clinical significance.

What to Expect After Genetic Testing?

Receiving Results

Results may take several weeks, depending on complexity. Your doctor will review them with you in detail.

Results may be:

• Negative: No significant variant identified
• Carrier result: You carry a gene variant but are healthy
• Positive: A disease-causing variant identified
• Variant of uncertain significance: Unclear clinical impact

If Both Partners Are Carriers

If reproductive carrier screening identifies both partners as carriers of the same recessive condition, options may include:

• Prenatal diagnosis during pregnancy
• IVF with PGT-M to select unaffected embryos
• Use of donor sperm or eggs
• Adoption
• Choosing not to pursue pregnancy

The appropriate decision is personal and supported through counselling.

Risks and Limitations of Genetic Testing

Genetic testing is generally low risk physically, but there are other considerations.

• Emotional impact: Anxiety, distress or guilt
• Uncertain findings: Variants that are not clearly understood
• Privacy considerations: Protection of genetic information
• False reassurance: No test detects all conditions
• PGT limitations: Not all embryos may be suitable; pregnancy is not guaranteed

Procedures such as amniocentesis carry a small risk of miscarriage.

Implications of Delaying Genetic Testing

Delaying genetic testing may:

• Limit reproductive options
• Delay diagnosis and treatment
• Increase emotional uncertainty
• Reduce time-sensitive fertility planning opportunities

Preconception carrier screening is ideally performed before pregnancy for maximum choice.

Cost of Genetic Testing

Costs vary widely depending on the type and complexity of testing.

• Medicare: Some tests are covered when strict criteria are met
• Private health insurance: Coverage varies
• Out-of-pocket costs: May range from several hundred to several thousand dollars

PGT involves additional IVF-related costs and laboratory fees.

A detailed cost discussion should occur before proceeding.