Jacqueline Turner has an honours degree in Genetics from Trinity College Dublin and a Masters qualification in Genetic Counselling from University of Manchester. Following completion of her Masters, she registered with the UK Genetic Counsellor Registration Board and worked for two years as a Cancer Genetic Counsellor at the Christie Hospital in Manchester before returning to Ireland in 1999. Up to 2016, she worked at the newly opened National Centre for Medical Genetics in Our Lady’s Children’s Hospital, Crumlin seeing families with a wide range of genetic conditions including genetic retinal disease. Up until recently, Jacqueline has been based in the National Rare Disease Office directly assisting people with a rare disease through the Rare Disease information line, working with patient support organisations, mapping centres of expertise in Ireland and other rare disease related work. In 2018, Jacqueline took up the position of Genetic Counsellor for Genetic Retinal disease in the Mater Hospital. A member of several national committees working to generate greater awareness and build supports for patients and families affected with a rare disease, Jacqueline has taken a special interest in educating both fellow professionals and the general public about genetics and her role as a genetic counsellor.
Report on the new Clinical Genetic Service for Inherited Retinal Dystrophy
The development and expansion of the Target 5000 study to involve a Clinical Genetics service has been funded by Fighting Blindness. The service ensures that patients receive a correctly interpreted and full explanation of their Genetic testing report so that clinical action can become a possibility.
157 reports have been received by the Clinical Genetic Service. 91 patients have received genetic counselling. Every patient prior to Genetic Counselling, has family history, clinical findings, images and their genetic report reviewed at a weekly multidisciplinary meeting. 33 (56%) families seen to date have been a single case within the family. For 4 (7%) families >10 individuals are affected, requiring multiple appointments with individual family groups.
In order to enter clinical trials or to offer testing to other family members, a gene variant must be ‘clinically actionable’ (ie. evaluated as ‘likely pathogenic’ (Class 4) or ‘pathogenic’ (Class 5)). As many of the reports were 2-5 years old, 13 of the 52 (25%) families evaluated to date have had the reported classification of genetic variants challenged by the Clinical Genetics team, highlighting how quickly variants are being added to databases and reclassified.
Importantly, 8 patient samples were returned for a full new gene panel evaluation as it was clear that the genetic report did not explain their condition.
Disease causing variants have been found in 41 genes in our cohort. 15 of these genes are unique to individuals underlying the importance of wider information sharing for any available natural history or prognostic information.
Two patients had reports which indicated that their IRD was part of a syndrome (ie affecting other body systems as well as eye involvement). Our service, in keeping with European guidelines, aims to become embedded in a full MDT clinic so that patients can be clinically evaluated before genetic testing takes place.