Results of Genetic Testing
Let’s assume you’ve already had all the consultations and undergone testing. The moment of receiving the results can be nerve-wracking.
Am I a carrier of a faulty gene or not?
The results of genetic testing are generally communicated in person and verbally by the doctor or clinical geneticist you’ve been in contact with. If the result is positive, it means you carry the Li-Fraumeni syndrome (LFS) gene mutation. Following this, you’ll receive information about screening and how to inform other family members who may also be carriers.
You’ll likely find that reactions within the family vary. Some will want to know, while others may shrug it off and say they have no interest in knowing. The latter can be particularly challenging if there are already children in the family. Over time, this could logically lead to complications, especially in families where it later turns out that the condition was already “known” but not openly discussed.
The best approach? Be open and honest! Transparency is key to ensuring everyone in the family has the information they need to make informed decisions about their health.
What Happens After the Results?
- Positive Result (Carrier):
You will receive guidance on regular screenings and monitoring to detect potential health issues early. You’ll also be encouraged to inform family members so they can consider testing. - Negative Result (Non-Carrier):
If the test shows you do not carry the gene mutation, you can breathe a sigh of relief. However, it’s still important to stay informed about your family’s medical history.
Informing Your Family
Informing family members about a positive result can be emotionally challenging. Here are some tips:
- Be empathetic: Understand that everyone processes this information differently.
- Provide resources: Share reliable information about LFS and genetic testing.
- Respect their choices: While openness is important, respect each person’s decision about whether or not to get tested.
Why Openness Matters
In families where hereditary conditions are present, keeping information hidden can lead to misunderstandings, missed opportunities for early detection, and even resentment. By being open and honest, you empower your loved ones to take control of their health and make informed decisions.
Need Support?
If you’re unsure how to approach this topic with your family or need additional guidance, reach out to your clinical geneticist or a counselor specializing in genetic conditions. They can provide tools and strategies to help you navigate these conversations.
Together, We Can Face It
Facing the results of genetic testing can be overwhelming, but you’re not alone. By staying informed, communicating openly, and supporting one another, families can navigate the challenges of hereditary conditions together.