How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization.
Raffaele RaimondiFabiana D'EspositoTania SorrentinoPanagiotis A TsoutsanisFrancesco Paolo De RosaElisa StradiottoGianmaria BaroneAngelica RizzatoDavide AllegriniCiro CostagliolaMario R RomanoPublished in: International journal of molecular sciences (2023)
Inherited macular dystrophies refer to a group of degenerative conditions that predominantly affect the macula in the spectrum of inherited retinal dystrophies. Recent trends indicate a clear need for genetic assessment services in tertiary referral hospitals. However, establishing such a service can be a complex task due to the diverse skills required and multiple professionals involved. This review aims to provide comprehensive guidelines to enhance the genetic characterization of patients and improve counselling efficacy by combining updated literature with our own experiences. Through this review, we hope to contribute to the establishment of state-of-the-art genetic counselling services for inherited macular dystrophies.
Keyphrases
- optical coherence tomography
- diabetic retinopathy
- healthcare
- mental health
- primary care
- end stage renal disease
- genome wide
- chronic kidney disease
- smoking cessation
- systematic review
- newly diagnosed
- ejection fraction
- cataract surgery
- hiv testing
- copy number
- prognostic factors
- age related macular degeneration
- peritoneal dialysis
- patient reported outcomes
- men who have sex with men
- dna methylation
- affordable care act
- human immunodeficiency virus
- hepatitis c virus
- health insurance