The event will bring together health professionals and parents and carers of children with
undiagnosed genetic conditions to share information, increase awareness of why some children
remain undiagnosed, identify the issues this causes for families and identify what support is
available. It’s a great opportunity for networking and will also:
• increase awareness and understanding of undiagnosed genetic conditions, explore why
diagnosis can be a lengthy process for some children, and explain why some children remain
undiagnosed;
• provide information about the genetic testing options available for undiagnosed children, both via
NHS routes and through research and will examine what the emergence of technologies such as
Next Generation Sequencing (NGS) may bring to the management of undiagnosed children;
• identify the key issues faced by families of children with undiagnosed genetic conditions.
CPD approval will be requested from the Federation of the Royal Colleges of Physicians of the United
Kingdom.
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