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Rare Disease Experts Share Hurdles and Hopes for the Community

Mediaplanet gathered a group of pioneers in the disease space to discuss the future of rare disease research and offer advice for those recently diagnosed.

Grace Terrell, MD

CEO, Envision Genomics

What is the biggest challenge facing the rare community today?

There are various challenges within the rare disease community, notably across legacy health care organizations, including people, process, technology and reimbursement. For the patient, obtaining a diagnosis in an effective and efficient manner is a massive challenge. This being said, opportunity and advancement within the last 36 to 48 months has been nothing short of remarkable.

What advancements do you foresee in the coming years?

Elevated industry commitment to holistic, data driven, cross-disciplinary and integrated medical approaches. With the furtherance and affordability of whole genome sequencing and the number of insights and discoveries that will ensue from effective interpretation of integrated information from whole genomes, the exposome and social/environmental determinants of health, medical care will move from a game of averages to one that can far more precisely (and positively) impact the care of our most vulnerable patients — those with rare and undiagnosed disorders.

What advice can you provide for those suffering from diseases that are currently undiagnosed?

Find a health care provider with a discernable interest in the same or similar disease and a provider who is open to thinking not just on a body part by body part specialty basis, but comprehensively. Gather all of your medical records into one spot (under your control) and read them. Find a patient advocate if you don’t have the right skill set or capabilities to tackle this on your own. Obtain the necessary testing (consider whole genome sequencing) and identify a physician or a site that has expertise in interpreting genomic data. Ask to be evaluated by a medical geneticist if you haven’t already been, and if you have, ask for reevaluation with whole genome sequencing. If you have, and no diagnosis was made, do not despair. Once the genome is sequenced, the information can be stored for life, and as new discoveries are made, it can be rerun periodically. Make sure to have these findings reevaluated; Envision recommends a six-month schedule. Quite often, the diagnostic rate from one year to another will double or triple as new information is learned and integrated.

Peter Saltonstall

President and CEO, the National Organization for Rare Disorders (NORD)

What is the biggest challenge facing the rare community today?

The greatest challenge for rare disease patients is the lack of available information and data on their disease. Without this information, it is difficult for researchers to study their disease, which hinders the development of new treatments or cures, and difficult for physicians to accurately diagnose patients. Registries and natural history studies are critical to addressing this challenge.

What advancements do you foresee in the coming years?

Advances in genetic testing capabilities hold special promise for people with rare diseases. Major progress has been made in this area in recent years, and I anticipate continued future advances. Gene therapy and gene editing appear very promising at this time, and the first gene therapies were approved in the United States in 2017.  

What advice can you provide for those suffering from diseases that are currently undiagnosed?

First, I would tell them that they are not alone in their journey. On average, it takes five to seven years for patients to receive an accurate diagnosis. I recommend that they try to find a team of doctors that are willing to take the time to listen, learn and work together to solve their medical mystery. NORD can help them find medical professionals or studies that they might be eligible to apply into, such as the Undiagnosed Diseases Network.

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