The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions

Abstract

Availability and implementation of genetic testing on a national and global level have advanced exponentially over the last few decades. While having a diagnosis of a rare genetic condition can have a plethora of effects on those concerned, the delivery of a diagnosis can often be accompanied by little information and no obvious care path for the future. Continued advancements in genomics have curtailed often lengthy diagnostic odysseys but also highlighted inequities and the need for extended support and provision of related information. Unique, a UK-based charity serving the global community of people and families affected by rare chromosome and gene disorders associated with developmental delay and/or intellectual disability, aims to bridge the knowledge and care gap between diagnosis and follow-up care. Bringing together patients, families, research scientists, clinical geneticists and other professionals involved in the care of individuals with a rare genetic condition can have a powerful impact on the progress of targeted support. With a community of over 30,000 member families, sharing knowledge and experience of rare genetic disorders, and also experiences of diagnosis delivery and follow-up care, this community provides an important source of insights and actionable concerns of those experiencing a rare disease journey, from diagnosis and throughout life.

Keywords: neurodevelopmental disorders; patient support; rare chromosome disorder; rare gene disorder.