Genomic Counselling: A Vital Discipline

If you look in the mirror, can you pick out which facial features you have inherited from your parents? Perhaps you have the same nose as your mum. Or the same hair colour as your dad. But what happens if you inherit something more serious than eye colour? Some diseases, such as cystic fibrosis, muscular dystrophy and colour blindness are hereditary, meaning that if one or both of your parents have the disorder, there is a chance you, or even your children, could develop the disorder too. But how do you find out whether you are likely to have the disorder, what does it mean for you and your loved ones and what support is available to you?

Picture this: You have just found out that your mum has been diagnosed with breast cancer. This is obviously a very difficult thing to hear, and you are very upset by the news. But then, you remember your grandmother also passed away due to breast cancer. Thinking that this may be a pattern, you go to your doctor to talk about your concerns, and your doctor refers you to a genomic counsellor.

Genomic counselling was coined in 1947 by Sheldon Reed, who wanted genetics to be more patient centred, with a focus on psychological wellbeing and empowering families to make informed decisions about their own health.  Genomic counsellors are highly skilled healthcare professionals, having received specialist training in genetic medicine, as well as in counselling. You may go to a genomic counsellor for several reasons, such as an individual concern about developing a particular genetic disorder yourself, or as a couple concerned about the risk of your baby developing a genetic disorder.

When an individual or family meets with a genomic counsellor, the counsellor will carefully explore the patient’s family history (detailing health, illness, or death of family members); family dynamics (recording the communication and relationship between family members); and create a family tree, representing all the information gathered. This is vital foundation data gathering to develop risk calculations to determine how likely it is that the individual, or their child, is to develop a genetic disorder.

The genomic counsellor may then refer the patient for genetic testing, based on the information given. When results are received, it is the job of the genomic counsellor to deliver the results in a clear, compassionate, and sensitive way. They will explain what the results mean for the individual and their family, whilst also translating difficult and complicated genetic information into something that a layman can understand. The genomic counsellor will listen and address any emotional or medical needs, as well as explain the options the patient has regarding the diagnosis, so that the patient is empowered to make their own decisions about their way forward. The genomic counsellor will work in a multidisciplinary team with other medical and healthcare professionals to ensure the holistic and appropriate care is provided for the patient.

Key principles for a genomic counsellor are to be non-directive and non-judgmental. This means giving the patient the space to make their own decisions, based on all the accurate information provided and rarely offering their own opinion of the way forward. The counsellor will be non-judgemental in the patient’s decision, and treat them with unconditional positive regard, meaning the patient will receive the counsellors support, regardless of their own thoughts on the situation.

However, there is some debate over the benefits of a non-directive approach if a particular route of action could potentially be lifesaving. For example, if a patient has been found to have a BRCA gene (which increases the likelihood of developing breast cancer), the counsellor may suggest the patient goes through a potentially life-saving cancer screening programme. In cases such as this, a non-directive approach may not be the best course of action, but in the main, non-directiveness and non-judgment are two key principles of genomic counselling.

There are still some barriers that genomic counsellors face; one such barrier is a lack of awareness and understanding by other healthcare professionals of what genomic counsellors do. If healthcare professionals are not aware of genomic counsellor’s unique skillset and contribution, they are less likely to refer patients to genomic counsellors, which in-turn may reduce the amount of effective care made available to a patient. A student at the University of Technology Sydney suggests that ‘it is important for genomic counsellors to act as advocates and take the lead in educating other health professionals about their roles and their skills. Genomic counsellors need to articulate their unique competencies, such as family communication of genetic disease, to help others to understand how we contribute to the multidisciplinary team approach to holistic care for a patient and their family’.

Overall, genomic counselling is a fascinating, ever-changing, and vital discipline. Genomic counsellors provide unique support for patients; they not only explain the results of genetic testing in a clear and meaningful way, but also provide necessary counselling for the emotional, psychological, and medical needs of the patients. Genomic counsellors empower patients to make informed decisions, which, at a time of potential uncertainty and fear, such as finding out you or your child may develop a genetic disorder, can provide a sense of clarity and control.


References

https://www.futurelearn.com/courses/what-is-genetic-counselling

https://blog.invitae.com/what-is-a-genetic-counselor-and-why-do-i-need-one-d989c98824c9

https://www.prospects.ac.uk/job-profiles/genetic-counsellor

https://www.uts.edu.au/about/graduate-school-health/genetic-counselling/news/future-genetic-counselling-your-questions-answered

https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm

https://www.healthcareers.nhs.uk/explore-roles/healthcare-science/roles-healthcare-science/life-sciences/genomic-counselling

 

Disclaimer

The information in this blog is for information and entertainment purposes only. I am not a medical professional, so I have never and will never give medical advice in this blog. You should always speak to a healthcare professional about your unique health needs. My opinions are entirely my own and do not reflect the organisations or people I work for. I only discuss published literature in this blog which are referenced with links.

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