I have been a Consultant Clinical Geneticist for over 20 years and my involvement with SOFT started with the May meeting in 2004. My working day over this time has changed massively. It has been exciting to see how advances in testing and new gene discovery have allowed us to give answers to more families, offer specific management or treatment. Although many changes have been focused on the technology behind testing, our understanding of trisomy 18 and 13 has also changed with research looking at care in early life, the effect of interventions and also advances in screening during pregnancy.

Patients and families who are seen in a Clinical Genetics department are usually seen as outpatients but we also carry out ward visits, mainly to the neonatal unit, to give advice. As a speciality we see both adults and children. Sometimes the referral may be asking for help to reach a diagnosis or we may be giving advice about management or screening when a new diagnosis has been made. We give information and support which aims to help families make the best adjustment and choose the right options for them. As the field of clinical genetics has expanded, many Consultants have specialised in areas such as Cancer Genetics. I have continued to see children for diagnosis but I also run a clinic for families with Inherited Cardiac Conditions and I am involved in our Genetic Ophthalmology Clinic.

More of my time is now spent helping with interpretation of genetic results.  We all have variation in our genetic code as part of being human and we work closely with our colleagues in the NHS laboratories to help decide if a particular piece of variation might be the cause of our patient’s symptoms.

Clinical Geneticists are regularly involved in teaching medical students and other health professionals and we all contribute to research projects. We work as part of a multidisciplinary team with genetic counsellors and have good links with our colleagues in other specialities.

Lastly, we build up relationships with families over many years and it is a privilege to reconnect with them as they go through different stages of life. Some of the most valuable lessons I have learnt about conditions have been from patients and their families.  Although the work is very different to 20 years ago, this aspect has remained a constant and for that I am very grateful.

Nora Shannon

Consultant Clinical Geneticist