A Day in the Life of a Genetic Counselor
The role of a genetic counselor is essential for rare disease patients and their families. We take a look at what a day in their life might look like.
Genetic counselors are many things. Their role is multi-faceted and involves wearing many different hats in the course of their working day and professional life.
They are essentially responsible for walking rare disease patients, and their families, through a genetic diagnosis. Sometimes they may meet with individuals and families during one specific part of the process, before they undergo genetic screening, or they may accompany a person throughout the entire process right through to a confirmed rare disease diagnosis, where relevant.
Their day is busy and challenging as they utilize both their genetic expertise, and their skills as counselors, to support individuals and families through what can be a very difficult and stressful process.
The roles of a genetic counselor are similar, regardless of their area of expertise. Some genetic counselors may focus on pediatric genetics and work mainly with parents-to-be and their infants and children, while others will work with a wide range of individuals from infant to adult.
Some genetic counselors may have more expertise in specific areas, for example in the area of cancer diagnosis in terms of the BRCA gene mutation and its inheritance (the gene mutation which places individuals who have it at greater risk for developing breast cancer), and this may alter the people they help on a daily basis, but their role remains very much the same, regardless of the different types of genetic counseling available.
A day in the life of a genetic counselor
Meetings with individuals and families.
These meetings may take place in-person, or increasingly online. These appointments will vary according to the needs of the individuals attending.
Their day may be spent walking people through genetic screening tests – the process, the possible results, and what it might mean for their own health and that of their future children.
There will also be time spent explaining the results of genetic screening and testing to patients, and the implication of these results for the individual, and their family where relevant.
Genetic counselors also spend a considerable amount of time recommending which types of genetic testing would be relevant according to an individual’s family medical history, their own personal medical history, and based on any other relevant factors for a diagnosis.
A typical day for a genetic counselor will also involve providing a great deal of emotional support – navigating genetic testing, and the entire genetic diagnosis process, even if in the end genetic testing reveals no rare disease or risk for one, is difficult on many levels. Genetic counselors spend their day not only explaining this diagnosis process, but also supporting individuals and families through it emotionally.
They also spend their days translating medical information for their patients, this and genetic information too. Part of their day sees them acting as educators, spreading information and awareness about rare diseases, including their causes and symptoms. This is an important role as it empowers patients, and increases our understanding of genetic syndromes at the same time.
Building their own knowledge
The rare disease field is one fraught with uncertainty and unknowns for many syndromes. Genetic counselors will undoubtedly spend part of their day increasing and improving their own knowledge and understanding of rare diseases and how they are inherited or caused. This part of the day is invaluable in terms of improving the rate of accurate diagnosis amongst genetic syndromes.
The day in the life of a genetic counselor involves supporting and helping a lot of people. It is important that this support is as accessible as it can be to those who need it. In recent years this has led to the development of online genetic counseling options, in order to increase this awareness.
