The Diagnosis Initiative: Seeking Care And Opportunities With Vision For Exploration And Research
Knowing that something is wrong with your health or your child's health — but not knowing what the problem is — can be frightening, frustrating, and exhausting. There are many people living with an undiagnosed disorder, despite having extensive medical evaluations. Families often describe this experience as a "diagnostic odyssey" as they travel to different specialists, undergo a variety of tests, and spend a lot of time, energy, and money seeking a diagnosis — often without finding an answer. Arriving at a diagnosis should be easier, so you can move forward with an understanding of the condition, outlook, and treatment options.
The physicians and scientists at NewYork-Presbyterian/Morgan Stanley Children's Hospital and ColumbiaDoctors have been helping patients with rare diseases and complex conditions for decades. The goal of the DISCOVER Program is to integrate excellent clinical care with cutting-edge research to make a diagnosis more quickly and to develop novel, individualized treatments for patients. The DISCOVER Program is the only such center of its kind in New York State.
About Our Program
Located in New York City, the DISCOVER Program of NewYork-Presbyterian/Morgan Stanley Children's Hospital and ColumbiaDoctors is available to people from around the world. We offer services for patients and families of all ages with significant medical conditions who seek a diagnosis. We provide access to advanced genetic and genomic technologies and exceptional clinical care from world-class specialists who are leaders in their fields, often in a single day or over several consecutive days. We search to provide an accurate clinical diagnosis, and will not stop once the diagnosis is made. You will also have the opportunity to continue care and enroll in cutting-edge research studies with the vision to move beyond your diagnosis and toward the development of innovative treatments.
We provide comprehensive services including review of records, consultation with medical specialists, genetic testing and analysis, case management, and access to research studies.
Whole Exome And Whole Genome Sequencing
Genetic sequencing can be a valuable tool for patients with undiagnosed and rare diseases and disorders. Searching for individual genes one at a time may not identify the cause of a disease and can be very expensive. We provide access to "whole exome" and "whole genome" sequencing, which enables us to examine all of your genetic information. We work with your insurance to preauthorize all testing in the program. We also have research programs available that may cover the cost of testing for some patients.
Personalized Case Management
Our case management team includes a physician, coordinator, genetic counselor, social worker, and nurse practitioner who will work with you and your family to meet your needs. The coordinator will contact you and your referring doctor to arrange for the transfer of medical records to be reviewed before your first visit to determine the specialty consultations and tests you may need. Our experienced genetic counselor will facilitate all of the genetic testing and networking with patient organizations when genetic diagnoses are made. Each team member has specialized skills that promote patient-centered care and ensure effective and coordinated communication.
Referrals To Specialists And Research Studies
Once we have achieved a diagnosis for you, we'll link you with the specialists you need. If you have a rare disease and there is no established standard of care for it, we can refer you to our investigators for further study, all here in the same medical center. And if we are unable to make a diagnosis quickly, we will keep searching and do whatever studies are necessary, including laboratory-based studies to identify your undiagnosed disorder.