The Genomics Festival is a two-day festival of ideas, innovation and a fast moving science and industry platform that took place at the Boston Convention Center. Between the industry leading sponsors and speakers you can not only envision thetremendous current and future applications genomics will play in our health care and our everyday lives, but also the complexity and the challenges facing the industry. With costs for genetic analysis dropping and companies becoming involved in recreational use for the mainstream public, there are concerns regarding privacy, insurance and how important genetic counselors will become with the interpretation of genetic analysis results.
I was especially interested in the presentations of how genomics is involved with rare diseases. The heartbreaking results patients and families receive and the long, arduous journey the patients and their families travel. The journey for rare disease patients often includes misdiagnoses by medical staff, non-diagnosis of their illness, or the non-professional medical opinions of well-meaning family and friends who use the internet to develop diagnoses. The good news is there are rare disease support groups that form to help each patient and family cope with the diagnosis and what to expect short term, as well as long term. They discuss the disease research, available clinical trials, fundraising to aid research, and how to reach out to other potential patients and families that may have the same debilitating symptoms, but have not yet been diagnosed. Increasing the pool of patients is important for genetic research in order to find more potential answers for researchers.
Families are becoming increasingly creative in their endeavors to educate the public regarding their children’s rare disease. One such group has developed the Rare Disease Film Festival. Daniel DeFabio and Bo Bigelow are two fathers of children with rare diseases who met at an advocacy conference. Daniel was immediately impressed with how much awareness work (with tangible results) Bo had accomplished in the short time since learning he needed a diagnosis for his daughter, Tess. The Rare Disease Film Festival is a compilation of 30 films, from documentaries to animated films. The well-done stories not only educate the public regarding rare diseases, but the sobering endeavors the patient and families endure. The films also bring out the message of hope, love and a future with a few less rare diseases. The festival also has its own Facebook page.
By David Shields