The Malta Independent 10 December 2022, Saturday
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‘A genetic what…?’

Sunday, 20 November 2022, 06:28 Last update: about 20 days ago

Donna Darmanin, Christopher Vella, Glorianne Micallef, Claire Grima and Loredana Vassallo

This is often the response we get from patients and their family members when we introduce ourselves as genetic counsellors. So, who are we? 

Genetic counsellors work with patients who are either in the process of receiving a diagnosis or have a family history of a genetic condition such as cystic fibrosis, Huntington’s disease or hereditary breast and ovarian cancer. These conditions present medical challenges to patients and their families. Additionally, some may deal with difficult feelings like fear of what is to come, shame and isolation due to the stigma that is still associated with some of these conditions and guilt about potentially passing on the condition to their children.

Genetic counselling is a non-directive communication process in which patients and their relatives are assisted in understanding and adapting to the medical, psychological, hereditary and reproductive implications associated with the genetic condition in question. In addition to educating individuals about the condition itself, we offer the safe space that patients require to address feelings and sensitive concerns surrounding the genetic condition that they might have. Implementing a patient-centred approach, we do our best to empower patients to find healthy means of coping with the various emotions associated with the diagnosis itself. 

In 2018, the Ministry for Health identified the need for this profession to be introduced in Malta and provided us with a sponsorship to study Genetic and Genomic Counselling at a Masters level in the United Kingdom. Having completed this postgraduate training, we founded the Genetic and Genomic Counselling Association Malta, a health-oriented voluntary organisation that aims to promote our profession, increase awareness about genetic conditions among laypeople and healthcare professionals and empower patients to be more in control of their own medical journey. Our role is quite vast and, in an era where personalised medicine is on the rise, our contribution to the local healthcare system is more pivotal than ever. As an association we are proud to form part of the Malta Health Network as we believe that patient-led and professional organisations play a crucial role in the local healthcare system.

One of our major roles as genetic counsellors is studying hereditary conditions in families; we explore medical histories within families, and using condition-specific software tools we can assess individuals’ risk of developing a genetic disease. There are over 7,000 identified genetic conditions to date; conditions which are caused by a change in a specific gene within the DNA. Through analysing one’s DNA, we may be able to identify whether the person is at risk of having the same condition as their family members. Another important role is for us to determine the appropriate genetic tests for our patients and to make recommendations based on the result and to liaise with other clinicians and healthcare professionals to provide coordinated care and support according to the patient’s need.

For instance, if an individual is found to carry a change in one of the genes associated with hereditary breast and ovarian cancer, such individual can opt to reduce the risk of the specific cancer by having regular screening or else opt for risk-reducing strategies such as having a preventive mastectomy. To illustrate this example, Angelina Jolie was found to have a change in the BRCA1 gene. We all have the BRCA1  gene, which has a role in protecting the body against cancer. However, some individuals have changes in this gene which make it less efficient at performing its role, thereby increasing these individuals’ risk of developing cancer, particularly in the breasts and ovaries. Jolie had opted to undergo preventive double mastectomy and reconstruction to reduce her risk of developing breast cancer.  

As a service, we are raring to go and serve families in Malta who need this public service. We are working hard with all stakeholders involved to deal with logistics and local regulation which are currently hindering the launch of the service. We are hopeful that in the coming months we will be available to provide the best care for patients and their families. 

The Genetic and Genomic Counselling Association Malta (GGCAM) is a full member of the Malta Health Network (MHN).

Should you have any questions about our profession or queries about what our work entails, contact us on [email protected]. More information on the Malta Health Network can be found at www.maltahealthnetwork.org

 

The authors are all members of Genetic and Genomic Counselling Association  Malta (GGCAM)

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