Genetic counselling and hereditary cancer: understanding your risk beyond the test results

Genetic testing now plays an important role in modern medicine. It can identify inherited variants in genes such as BRCA1, BRCA2, or those associated with Lynch syndrome, making it possible to take proactive steps to protect one’s health [2]. These steps may include earlier screening, tailored monitoring based on individual risk, or preventive strategies aimed at reducing the likelihood of developing cancer.

However, a genetic test result on its own is not enough. Interpretation requires context. This is where genetic counsellors play a critical role. These health professionals are trained to help individuals understand genetic information in the context of their personal and family medical history. Their goal is to make the information clear, meaningful, and actionable [3]. With proper guidance, genetic information becomes a powerful tool for informed decision‑making.

When we think about our health, we rarely consider the full story behind it. Yet family medical history is one of the most important starting points for assessing hereditary cancer risk. A common misconception is that risk comes mainly from one side of the family. In reality, both sides are equally important.

To build an accurate picture, genetic counsellors often recommend collecting information going back to three generations, when possible. The most useful details include:

• which family members have had cancer
• the type of cancer
• the age at diagnosis
• whether a person has had more than one type of cancer

This information helps determine whether genetic testing is appropriate and, if so, which type of test would be most informative.

Other genes, such as PALB2, CHEK2, and ATM, are also associated with an increased risk of certain cancers. Depending on a person’s personal and family history, some genes may be more relevant than others. This is where the expertise of genetic counsellors is essential. They help determine which genes should be tested in a specific situation to provide the most useful answers for guiding care and decisions.

Genetic counselling generally takes place in two main stages: before testing and after results are available. During the first appointment, the genetic counsellor reviews your personal and family medical history and discusses whether genetic testing is appropriate for you. They take the time to explain:

• the benefits of testing
• its limitations
• the possible results and what they could mean for you and your family

The goal is to provide all the information you need to decide, with confidence, whether genetic testing is right for you. If testing is done, a follow‑up appointment is scheduled once the results are available. The counsellor will help interpret the findings and discuss the next steps. Together, you can develop a personalized plan based on your results.

A variant of uncertain significance (VUS) means that a genetic change was identified, but its effect on cancer risk is currently unknown [3]. This type of result is relatively common, occurring in approximately 10 to 20% of cases.

In most situations, a VUS does not lead to immediate changes in care recommendations. Over time, as scientific knowledge evolves, these variants may be reclassified. Genetic counsellors can provide follow‑up if new information becomes available. In the meantime, a VUS is generally treated like a negative result to avoid unnecessary worry.

Genetic counselling also helps ensure that your healthcare team has the information needed to guide your care. After your appointment, you will receive a clear summary of your results and recommended next steps. This document can be shared with your family physician or specialists so that everyone involved in your care is aligned. In many cases, genetic results are also relevant to other family members. Sharing this information may help them better understand their own risk and consider appropriate preventive measures.

Receiving genetic information can bring uncertainty, concern, and emotional stress. Genetic counsellors are trained to provide compassionate emotional support in addition to scientific expertise.

They can help you:

• manage anxiety related to uncertainty
• think through how best to share results with loved ones
• plan next steps after testing

In Canada, the Genetic Non‑Discrimination Act protects individuals from discrimination based on genetic test results in areas such as employment and insurance [4]. Understanding these protections can help people approach genetic testing with greater peace of mind.

Understanding hereditary cancer risk goes beyond simply having a genetic test. It is a comprehensive process built on three key steps:

1. Pre‑test genetic counselling: assessing risk, reviewing family history, and discussing testing options
2. Genetic testing: analyzing the information contained in your DNA
3. Post‑test genetic counselling: interpreting results and creating a personalized plan

Together, these steps give real meaning to genetic information. Rather than a single lab result, you gain knowledge, support, and guidance to make informed decisions about your health.