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Mt Sinai Explores Ways to Make Genetic Information Part of Asthma Health Study

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NEW YORK (GenomeWeb) – As part of their efforts to analyze and use data collected by a newly launched Asthma Health application, researchers from the Icahn School of Medicine at Mount Sinai are starting to explore ways of incorporating genetic information into the app and making it available to patients and their physicians

The Mt Sinai team developed the asthma app in collaboration with LifeMap Solutions, a BioTime subsidiary. The partners are now developing an electronic genetic counseling platform, which could be included in future versions of the app, that would provide patients with a sort of first line of counseling and information related to genetic tests that they might undergo, Eric Schadt, director of the Icahn Institute and chair of Mt. Sinai's department of genetics and genomic sciences, told GenomeWeb. The service would provide information on medically actionable variants that could impact which medications are prescribed and communicate some level of test results back to patient. Mt Sinai will work with appropriate government regulatory authorities regarding the inclusion of genetic testing results or any genetic information in the app and will also offer New York State-approved genetic tests that physicians can order for their patients, Schadt said.

"Most providers now give access to the EMR, and when tests are performed you are able to get access to those tests … what you don't get, other than going to your physician, is an interpretation of those tests," he said. "We hope that the electronic counseling component will provide people with genetic testing with some type of service that doesn't require them to go in and talk to a physician. We believe it's doable."

The genetic counseling platform should be ready for a pilot program sometime in the next several months.

The asthma app is one of five applications focused primarily on chronic disease management that were launched earlier this month when Apple unveiled its ResearchKit platform, an open-source framework for developing apps that can be used to capture data useful for medical research purposes. The other apps launched on the ResearchKit platform focus on Parkinson's disease, diabetes, breast cancer, and cardiovascular disease.

The Mount Sinai and LifeMap app will be used to collect information for the so-called Asthma Health Study, which aims to gain greater insights into disease triggers and to help patients experience less asthma-related distress and improve their quality of life. The freely downloadable asthma app provides tools to record and track information about daytime and nighttime asthma symptoms and their impact on day-to-day activities; daily use of controller and rescue inhalers; triggers such as colds, exhaust fumes, dust, and strong smells; emergency room visits and medication changes; and physical activity as monitored by any wearable devices that patients might have such as Fitbits.

Users will receive medication reminders and notifications about local air quality, including information on ozone levels, particulate matter, and so on, to help them avoid areas that could trigger symptoms. With users' approval, the app will gather information on their height and weight, peak expiratory flow rate, biological sex, date of birth, inhaler use, sleep analysis, and steps.

The researchers have also signed an agreement with the EuroQol Research Foundation, to make the EuroQol EQ-5D-5L questionnaire available within the app, Schadt said. It's a simple assessment test that patients can take on a daily basis that predicts their risk of disease exacerbation.

The data collected by the app is encrypted and stored on a server that's managed by Sage Bionetworks — Apple never stores the data. Eventually the data is moved to a secure cloud location where it's accessible only to the investigators involved in the study.

Since the Asthma app launched on March 9, it has been downloaded about 38,000 times, mostly by users in the US, according to numbers provided by Mt. Sinai. However, only about 4,900 of that number fit the criteria for actual enrollment in the Asthma Health study. The specific requirements are that participants need to be 18 or older, residents of the US, and be medically diagnosed with asthma and have prescribed medication. Patients sign electronic consent forms agreeing for their data to be used in the current asthma study as well as future ones, and they also consent to have their information shared more widely with other members of the research community.

This first asthma study will last for six months, and then the researchers will assess whether the app helps to relieve disease-related distress and improve quality of life, Schadt said. Those were among the goals for partnering with Apple to use ResearchKit for the asthma study in the first place.

One idea was to explore whether it could be used to engage patient populations electronically and consent them to participate in IRB-approved research. But also, Schadt said, "can we demonstrate clinical utility by running the right kind of studies to show that if somebody were to use this app, then in the long term they can reduce disease-related distress, they can increase compliance with medication, and reduce overall hospitalizations or emergency room visits? Those are the kind of things we are aiming to show through the app; it's not just something fun to use, but it's something that can have a meaningful impact on the patients' life as well as on the healthcare system."

The partners hope to have the genetic counseling platform up and running by the time this first study wraps.

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