Rare Disease Day 2020 – diagnosis is just the start of another journey for patients

Today is Rare Disease Day 2020. The 100,000 Genomes Project is coming towards an end as we have finished sequencing everyone’s genomic samples, and are working hard to get the last few reports back to the NHS. To mark and raise awareness for the occasion, we asked Dr Christine Patch, Clinical Lead for Genetic Counselling at Genomics England, to give us her perspective.

Projects such as the 100,000 Genomes Project and others are directly facilitating new genetic diagnoses for patients with rare disease. The research that will happen as scientists explore this genomic information will lead to greater understandings of rare disease and create the possibility of new treatments. In the short to medium term, as health services such as the NHS in England implement new technologies and make access to appropriate genetic testing easier and more efficient, the excitement and hope is that many more patients and families with rare diseases will be able to avoid the long diagnostic odyssey and get a diagnosis and explanation more quickly.

In the optimism and excitement about this however, we must not forget that the diagnosis is just the start of another phase of the patient and family journey. We know that rare disease charities and advocacy groups are already asking the question – what happens next? Projects like the 100,000 Genomes Project, and its collaboration with the NHS and the participants, has made real progress, but it is also just the start.

As a health professional I think our obligations to patients and families with rare disease includes thinking about how we can impact on the next stage, and use our resources to focus on how we work with and support patients and families to manage the impact of genetic information in their lives, which for some will include the impact for future generations.