On the 29th February 2008, the rarest day of the year, EURODIS launched the first Rare Disease Day. This globally coordinated movement aims to raise awareness of patients with rare diseases, and promote equity in social opportunity, healthcare with access to diagnosis and therapies for all patients.
According to estimates by the Orphan Disease Center at the University of Pennsylvania about 350 million people worldwide are affected by rare diseases . In Europe alone this equates to an estimated 30-35 million people, or 6-8% of the population. Patients with rare disease typically have unspecific and wide-ranging symptoms which poses significant challenges in gaining a diagnosis. Unfortunately, the diagnostic process for these diseases can often take many years, and sadly, 30% of all children with a rare disease die before their fifth birthday without ever receiving a diagnosis . While this is not only a tragic human loss, it also carries significant costs for families and healthcare systems .
To support the diagnosis and management of rare disease the European Union has established a network of national reference centres that provides expertise and resources to support patients with rare disease.
The Importance of Genetic Diagnosis
With most rare diseases being genetic in nature, sequencing the whole genome of rare disease patients has become increasingly popular as this provides a broad genetic analysis with the best chance of identifying the genetic cause of the disease. This has been helped by the significant advances in sequencing technology, both in terms of the output of sequencing information as well as a significant reduction in sequencing cost. These technological advances have had a profound impact for patients with rare disease as it has dramatically shortened the time to diagnosis, which in turn directly impacts patient outcomes, reduces the emotional cost for the patient and their family, and decreases the cost to the healthcare system. In fact, in 2019, the US Senators introduced the "Ending the Diagnostic Odyssey Act of 2019" which permits states to use Medicaid funding for whole genome sequencing (WGS) analysis in children with certain rare diseases. 
The Impact on Patients and families
Getting a diagnosis is essential for patients and their families. While receiving an early diagnosis can have a significant and life changing impact to the progression of a patient’s disease and can drastically improve their long-term quality of life, for patients who have experienced years of a diagnostic odyssey finally getting a diagnosis brings a massive sense of relief. A diagnosis finally allows patients and families to move forward with their lives and connect with others with the same condition, rather than living in the constant fear of the unknown and the unexpected. A family receiving a diagnosis can also be provided with additional support for future reproductive choices and potentially with carrier screening for other family members.
What next for Rare Disease?
With rare diseases affecting millions of people worldwide, we must continue to raise awareness and push for improved diagnosis and treatment options, so that everyone living with a rare disease can receive a diagnosis, access the care and support they need and have an increased quality of life. Congenica is working with clinicians and healthcare professionals around the world to enable rapid diagnosis and further our understanding of rare disease to provide the answers today and into the future for patients with rare disease.
 Orphan Disease Center at the University of Pennsylvania https://www.orphandiseasecenter.med.upenn.edu/
 RARE Science, Inc.https://www.rarescience.org/mission-and-approach/
The National Economic Burden of Rare Disease Study 2021: Everylife Foundation for Rare Diseases https://everylifefoundation.org/burden-study/
The ending of the diagnostic odyssey https://www.patentdocs.org/2020/01/the-ending-the-diagnostic-odyssey-act-of-2019.html