Introduction :
Rare Diseases, Genomics and Justice
The healthcare and support of individuals living with rare diseases raise important questions of justice, with implications for both research and clinical services. There are also questions of justice that relate to genomics: not so much the science itself but the way in which research is conducted and how the information generated through genomics is then applied in medicine and healthcare. Both these areas have been under-researched and voices critical of the way in which genomics is being implemented have often been sidelined. We wish in this workshop to address the substantial intersection between these two important areas of (i) rare disease and (ii) genomics, and focus on a key issue: justice.
The programme gives voice to some of the questions and concerns arising among clinicians, research academics in several fields, and (most importantly) those personally living with rare diseases. It is beyond the remit of this workshop to resolve these matters, but our aim is to define the main issues regarding rare diseases and justice in relation to genomics and to develop a shared/joint agenda to allow those gathered or represented in the workshop to move forward collaboratively towards a solution. Our outputs – a special issue of the Journal of Community Genetics, a EURORDIS newsletter, a podcast in collaboration with the European society of Human Genetics, to name only a few – will articulate these important concerns and will highlight concrete strategies towards positive change.