Interoperability, the meaningful sharing of electronic health information between platforms, is seen as critical for the future of healthcare and healthcare-related fields. As the amount and variety of the average patient’s health information inevitably grows, so do the challenges of transmitting and interpreting that information.
Genetic tests, which are lab tests used to detect an individual’s genetic variants, are becoming more common and complex. Genetic variants contribute to the diversity of human appearance (eye color, height, etc.), but they also determine a person’s susceptibility to a number of disorders. Some disorders can be caused by a single mutation, while other disorders might have more complex genetic factors. Scientists have developed a number of genetic tests to detect if a patient has a known disease-causing or -associated genetic variants – these typically only examine one or a few of the more than 20,000 genes found in the human genome (the total DNA found in a human cell). However, technological advancements have opened the door for large-scale genetic tests that screen large portions or even the entirety of a patient’s genome for genetic variants.
A patient’s family health history can be used to identify diseases that run in the patient’s family. The presence of such patterns often indicates an underlying genetic factor. If the genetic factor is identified, further genetic testing can determine whether or not the patient has inherited the factor and is thus genetically predisposed to the disease in question. And if the patient is found to have the genetic factor, they might be able to take preventative steps to slow or prevent disease onset.
Interoperability is fundamental for a lot of clinical research efforts, to include national health initiatives such as the Precision Medicine Initiative and the Cancer Moonshot Initiative. These initiatives make use of data from multiple sources and disciplines including genetic testing, family health history, medical imaging, and other health information, to look for factors (e.g. genetic) that lead to various diseases, such as cancer or neurodegenerative disorders.