Nov 7-8, 2017, D.C.: Thank you Terrapinn for supporting our attendance at your conference. We had our own COO and VP of Patient Advocacy speak about the tremendous burden of being an undiagnosed rare disease patient, and why all stakeholders need to work to meet the needs of these patients and support their diagnostic journey to achieve their diagnosis and accelerate their path to treatment! Below are a few takeaways collected by her.
After a wonderful introduction by the rare disease giant Dr. Steven Groft, Katherine Donigan from the FDA, spoke about the latest on regulations for In Vitro Diagnostics (IVDs) and an update on the new approved 30 Companion Diagnostics. She discussed how Next Generation Sequencing (NGS) is being looked at from the FDA. They are taking into consideration how different this type of test is, since results cannot be pre-defined and the disease result cannot be predicted. Hopefully this will allow for a more flexible approach according to NGS’ unique characteristics.
Scott Joseph, the VP of CIGNA Healthcare spoke about the unrealities of unsustainable healthcare costs, noting that nearly 1/3 of health care costs are waste. For example, over-treatment, missed prevention opportunities and a lack of care coordination. I hope this means there will be more support and concrete steps towards addressing these issues, which significantly affect undiagnosed rare disease patients. How can we get our undiagnosed patients what they need without forcing them to go through countless and maybe even painful unnecessary testing? He mentioned that CIGNA requires pre and post genetic counseling for any genetic testing. Genetic counselors are our best friends and do so much for our patients, how can we make sure to support them more so that they are able to meet this requirement?
Both David Smith (of Mayo Clinic) and Kenna Shaw (of MD Anderson Cancer Center) raised big questions on the use of Whole Genome Sequencing (WGS) as a clinical test. Now while it appears their focus was more on cancer and precision medicine, they do make a good point on the importance of ensuring the quality of the analysis done, and the push to communicate more amongst labs so that procedures on analysis and reporting are properly standardized, developed, vetted and explained for the physician. David Smith spoke at length about the efforts by Beijing Genomics Institute on WGS.
Iris Grossman, of Teva Pharmaceutical Industries, gave a beautiful and comprehensive talk about the holistic approach adopted at Teva where Genetics is integrated with other key –OMICS data to develop treatments for devastating neurodegenerative diseases. This gives hope that companies are now starting to find ways to customize their treatments for their patient population. And Teva’s research on different populations exhibiting extreme phenotypes (diseases) can help pave the way to novel targets that can be used for existing or novel diseases.
The American Heart Association spoke about the need to address inequities in health, music to our ears! They discussed the difficulties in doing this because “80% of data is siloed.” They have partnered with Amazon Web Services to create My Research Legacy, which will combine genetics with lifestyle and health data, to involve the patient in their own care.
Last, James O’Leary , Chief Innovation Officer of Genetic Alliance, spoke about how they are helping patients engage directly with their data through a community-led research registry called PEER. We love anything that has to do with patient-governed data, and Genetic Alliance is making sure to do that. They are even featuring a tool where online guides will help a patient choose the privacy settings that best suits their needs. We are very excited at this effort and hope to work with Genetic Alliance to connect our own patients to this project.
Romina Ortiz (COO & VP Patient Advocacy) with Stephen C. Groft, PharmD.
Steve is currently a Senior Advisor to the Director, National Center for Advancing Translational Sciences at NIH. He served as the Director of the Office of Rare Diseases Research (ORDR) in NCATS at the NIH from 1993-2014. His major focus has been on stimulating research with rare diseases and developing information about rare diseases and conditions for health care providers and the public.