Celebrating International Self-Care Day: The Role of Genetic Counselling in Empowering Personal Health

As we approach International Self-Care Day on July 24th, it's a perfect opportunity to reflect on how we can control our health and well-being. One powerful tool in this self-care toolkit is genetic counselling. By understanding your genetic makeup and thus, possible risks, you can take proactive steps towards a healthier future for yourself and your family. To explore this topic further, we spoke with Marie Met-Domestici, a seasoned genetic counsellor at Unilabs Switzerland, to gain insights into how genetic counselling plays a crucial role in personal health management. 

Can you explain what genetic counselling is (various aspects of genetic counselling) and why it’s an important part of self-care? 

Genetic counselling is a patient-centric support that can be offered to patients when genetic testing is considered. It helps patients to adjust and deal with genetic conditions. By clarifying the medical implications of specific genetic findings, genetic counselling empowers patients with knowledge and guidance. Sometimes patients face difficult life-changing decisions. Genetic counselling also addresses the emotional impact of genetic conditions, aiding patients in navigating complex, life-altering decisions.  

Can you describe the process a patient goes through from initial consultation to receiving their genetic test results? 

During the first genetic counselling consultation, the genetic counsellor verifies if there is an indication for genetic testing. A comprehensive personal and familial history is noted. If testing is deemed appropriate, the genetic counsellor explains basic genetic concepts and the testing process to the patient. To help patients understand, I often use a book chapter analogy to explain that the lab is looking for some changes in the genes that we could consider like “misspellings” in words. Then, we discuss the personal and familial implications of the possible test results. Along the way, it is essential to explore the emotional impact of the results, which enables the patient to make an informed decision about whether to proceed with genetic testing. The patient will sign an informed consent if she/ he wishes to proceed. We remain the person of contact if the patient needs clarifications or support when the test is ongoing.  

When the test results are ready, we meet with the patient to review them. We discuss the medical implications in the context of the actual results. If needed, we are available for family members who might benefit from pre-symptomatic testing. Again, emotional support is crucial throughout this process, especially when dealing with positive test results and subsequent personal decision-making processes which could arise. 

How does genetic counselling help in making informed health decisions? 

My area of expertise is cancer genetics. One well-known hereditary cancer predisposition has been made famous by the actress Angelina Jolie. Women with that condition, involving mutations in the BRCA1 or BRCA2 genes, have a lifetime breast cancer risk of around 70%, compared to about 12% in the general population. They also have a significantly increased risk of ovarian cancer. 

Before testing, if there is an indication to test those genes (and others), we explain to patients what would be the recommended increased surveillance and the risk-reduction surgeries that can be performed if a pathogenic variant is found in those genes. It is crucial to consider the emotional aspects of those discussions. Our objective is to emotionally prepare patients for different outcomes so that if a positive result is received, they are somewhat prepared for the acceptation process. 

How do you handle situations where a patient’s genetic test results indicate a high risk for a serious condition? Can you share an example of how genetic counselling has helped a patient in their self-care journey? 

When managing breast cancer risk for a young woman with a BRCA pathogenic variant, recommended surveillance typically starts with breast screening at the age of 25. By age 30, the screening is increased with a combination of different screening methods. Additionally, there is the option of a risk-reducing breast surgery. Screening or undergoing surgeries are different strategies with different objectives. There are also emotional implications for each major life-changing decision. 

I remember a patient diagnosed with BRCA while planning to start a family. We had several discussions about her different future plans. She was willing to opt for the risk-reducing surgery but also wanted to breastfeed her future children which would have been impossible with a prophylactic mastectomy. Through genetic counselling, we explored various options and the different implications of each decision, helping her determine the best choice for her unique situation. Ultimately, she chose to undergo proper screening until she had finished breastfeeding the children, after which she planned to proceed with the risk-reducing surgery. 

By discussing the different possible options and considering the patient’s life plans, genetic counselling empowers patients and enables them to be proactive in their self-care journey.