Rare Eye Diseases: Challenges and Dilemmas in the era of Genomic and Personalised Medicine
ERN-EYE, the European Reference Network dedicated to Rare Eye Diseases, successfully concluded its 6th Scientific Workshop about “Rare Eye Diseases: Challenges and Dilemmas in the era of Genomic and Personalised Medicine.” The event, held on 7th and 8th December 2023 in Strasbourg, France, brought together a wealth of expertise and insights from leading professionals in ophthalmology and genomics.
The workshop explored the complexities surrounding Rare Eye Diseases within the context of genomic and personalised medicine. Discussions and presentations centered on crucial themes such as the role of genomics in diagnosis and treatment, differences between countries, challenges in patient care, and the importance of prenatal testing.
Pr Hélène Dollfus, ERN-EYE coordinator, said: “Our workshop provided an opportunity to review the state of the art in Europe and the latest advances with the many experts present. The engagement and exchange of ideas brought out a number of challenges, particularly in the areas of genetic counselling and diagnostics.”
Key highlights from the workshop included:
- Genomic medicine for RED: The experts presented the differences between genomic research in some European countries.
- Genomics ethical challenges: Discussions focussed into the ethical considerations surrounding genomics in the context of Rare Eye Diseases, addressing issues of privacy, consent, and secondary and incidental findings.
- Genetic counselling challenges: The workshop identified challenges and strategies in providing effective genetic counselling for individuals affected by Rare Eye Diseases and the challenge of announcing a result or a “non result”.
- Patient-Centric Care: Patient representatives emphasised the central role of patients in the era of personalised medicine, advocating for more inclusive and patient-centered care approaches.
The insights shared and discussions held during this event will directly influence future initiatives and strategies, enabling ERN-EYE to better address the challenges faced by patients, healthcare providers, and researchers in the field of genomic and personalised medicine.
For more information about ERN-EYE and upcoming initiatives, please visit our new website www.ern-eye.eu