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Task Force Informatics Helps Build Comprehensive Profile Of Patients With Inherited Metabolic Disord

One of its kind initiative in state aims to better understand the diseases and treatment outcomes

When Bentley Vining was born, he was diagnosed with a rare inherited disorder that required him to be on a lifelong special diet. His mother, Courtney, submitted a claim for the medical formulas to the family’s insurance provider. They denied it; as a result, she was left having to take on the $600 monthly financial burden for foods that were essential for her baby’s growth and development.

To help end this Hobson’s choice, The Task Force’s Public Health Informatics Institute has been supporting Emory University in building a statewide program for nutritional assistance to families like the Vinings. The Medical Nutrition Therapy for Prevention (MNT4P) program bridges gaps in medical food access to around 500 Georgia families free of cost, and is the only program of its kind in the state.

“Although newborns are screened for these disorders and the treatment is available, families had no access to care,” says Rani Singh, PhD, who heads the program. “Our goal is to provide the care, and bridge the insurance coverage gap for these sometimes life-saving foods.”

Inherited metabolic disorders refer to a host of conditions that are caused by specific enzyme defects that interfere with normal metabolism of protein, fat, or carbohydrates. These disorders require lifelong nutritional intervention in the form of medical foods to prevent death, intellectual disability, and other adverse health outcomes.

However insurance companies don’t typically cover the cost of these foods as it’s a rare disorder (the incidence in the U.S. is around 1 in 15,000 births), and medical foods are not considered a treatment the way a drug is.

As a result, Singh says the program, which launched in 2016, had to take a broader view and offer services that went beyond treatment; their holistic care now includes helping patients navigate the insurance maze and providing nutrition therapy and education. The program also serves as a community for those living with genetic metabolic disorders and features resources to help them make informed decisions about treatment choices. “PHII helped turn this vision into reality,” says Singh.

PHII’s Project Manager Sheereen Brown, MS, says they used a collaborative business process analysis to gather information about the program’s needs – both as it existed and what was desired – to come up with a solution. They helped MNT4P implement an online tool that arms patients with information about their insurance choices, and connect them with other patients and those in community.

Dr. Singh says that from her perspective as a program head, she values that PHII helped her team make sense of the information that they were collating using Excel spreadsheets. “We now understand in a detailed way what it is we are doing and how we can function like a non-profit. Our patients are able to access the information they need with a few clicks on our website,” says Singh.

Singh says using PHII’s increased informatics capacity is enabling the program to track patients with metabolic disorders, something that has never been done before anywhere in the world.

PHII will soon unveil an updated, more comprehensive database that will further build on the program’s personalized services by overlaying MNT4P patients’ medical needs on their electronic case records so it’s all accessible in one repository. “It’s exciting to have a program that is based locally as we are able to tangibly make a difference to those who live right here, in our backyard,” she says.

Singh says she hopes to use the new database to conduct a longitudinal analysis of patient outcomes for individuals with metabolic disorders. “Right now, there’s no data on outcomes. We can also understand the economics of the disease and assess the influence of government policies so it informs programmatic decisions.”

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