Thank you Global Genes for supporting our attendance to your Rare Patient Advocacy Summit by granting us a scholarship! Below are a few highlights we got from attendee Romina Ortiz, COO and VP of Patient Advocacy.
The meeting kicked off by speakers from leading genetic sequencing laboratories, Illumina, Hudson Alpha Institute and Broad Institute. All three speakers talked about the benefit of whole exome and whole genome sequencing, and the push for insurance coverage to make this test accessible to patients. Ryan Taft, Senior Director of Scientific Research at Illumina, announced that as of November 2017, there will be a significant increase in insurance coverage for WES and that there are already 6 insurers now covering WGS!
Annette Bakker, President of the Children’s Tumor Foundation, described their work for Neurofibromatosis (NF) patients. They foster a NF-specific clinical network, a patient registry, a biobank, promote open data, have developed a tailored Pharma Kit, and started an education and awareness campaign called Patients Help Doctors (PHD). They highlight the success of cross-funding, where multiple funders work together to fund multiple programs.
Linda Newberry, Senior Vice President of Dohmen Life Science Services and Marie Rand, co-founder of PHAware, gave an amazing talk about how to get nursing care covered and the unique situation of sharing your home with a paid nurse. Marie is also working to develop the first ever FDA approved phone application that will collect patient data. She urged parents to “decide what you need and then create your team accordingly, do not wait for someone to tell you what you need.”
The Alliance for Regenerative Medicine (ARM) explained how patients with a rare disease-associated gene may produce too much or not enough of a protein, and how a therapy can be made to balance those protein levels.
Christopher Austin, the director of the National Center for Advancing Translational Sciences (NCATS) at the NIH, described science with a question and an answer, “We have a problem” and “We have an idea.” And that NCATS is in the risk mitigation business, and ¾ of its funding goes to clinical programs and trials to companies that otherwise do not have the resources for their idea. He also mentioned that NCATS recognizes that fundamental research is where science projects begin, “but when someone has a sick child you cannot give them a publication.”