Chapter 1.1: Reasons for Genetic Testing

What prompts the need for a genetic test? The following points summarize key reasons:

• Your doctor suspects a health issue linked to genetic changes.
• A family member has a genetic condition.
• Some of your close relatives have experienced a hereditary type of cancer.
• You or your partner have a genetic condition that could affect your children.

Let’s explore the last three points in more detail.

Chapter 1.2: The Role of Genetic Counselors

After receiving your genetic test results, a genetic counselor will explain them to you, especially if they indicate a positive outcome. However, diagnosing genetically linked symptoms can lead to uncovering incidental findings—unexpected results that may indicate other health risks. These incidental findings can generate ethical conflicts within the medical field.

For example, if a patient learns about incidental findings, should their relatives, who share similar DNA, be informed of their increased risk for certain conditions?

Should you disclose secondary findings to your partner, particularly if it may affect decisions about having children? If a patient chooses not to share this information, is it the counselor's responsibility to intervene?

The medical council provides guidance on these dilemmas. They state:

If it is impractical or inappropriate to seek consent, and in exceptional situations where a patient declines, revealing personal information may be warranted in the public interest if failing to do so could endanger others' lives or lead to serious harm.

Thus, in exceptional circumstances where not disclosing information poses a "risk of death or serious harm," sharing personal details may be necessary.