Neurofibromatosis type 1 is a rare disease, affecting approximately 1 in 4,000 people; however, it is one of the most common hereditary disorders. People with this condition develop skin discoloration and lumps, which can be disfiguring. Additionally, some of these lumps can become malignant. These individuals are also more likely to develop other cancers, learning problems, and hypertension, among other medical issues. Despite the many ways that Neurofibromatosis 1 affects patients, it is an under-recognized disease, and we have little knowledge of what impact Neurofibromatosis 1 has in the health care system. We also do not know what health care resources people with Neurofibromatosis 1 need the most and whether there are some groups with lower access to care. It is likely that the disease has a different burden across different geographical areas and for different segments of the population.

In this study, we will address these knowledge gaps. First, we will develop a reliable method to identify Neurofibromatosis 1 in Ontario, Canada. Then, we will use this method to calculate how many people with this disease live in the province and whether they are at higher risk of dying compared to people without the disease. We will also study what health services these individuals use, such as emergency, specialty, and primary care visits, and whether there are any differences across different groups of people. For example, we will compare health services use between men and women and by age groups. We will also examine how different socioeconomic status, ethnicity, and regions of the province (e.g., rural vs. living in big cities) affect access to care for people living with Neurofibromatosis 1.

Our results will directly help to improve health policies for this potentially disabling condition. For example, we might learn that we need to increase accessibility to pain or mental health care in specific regions, such as people living in rural areas. We also will determine whether living in particular areas, socioeconomic status, and other factors increase patients’ risks to have emergency admissions or to die from the disease. These answers will have a direct influence on our policies and how we administer health resources.

Finally, our method for detecting this disease will result in a large database on Neurofibromatosis type 1. Based on what we know of the disease and the current Ontario population (more than 14 million people), we estimate that we can identify approximately 3,500 people with this disease. Our big data approach will help us and future researchers to answer any other questions regarding Neurofibromatosis 1. Such issues include what happens to pregnant patients and their babies, whether patients are receiving new medications as they become available, and whether new treatments or interventions reduce death and other complications.