From cause to care: Triple surveillance for better outcomes in birth defects and rare diseases

Better outcomes are a priority for all those who care about birth defects and rare diseases. Public health surveillance and epidemiologic data tracking historically have provided good data on disease occurrence but at most uncertain value in promoting better outcomes, be these in terms of supporting primary prevention or better care. We propose three enhancements to improve the value of surveillance. First, merge: eliminate the largely artificial separation between birth defects and rare diseases in surveillance. Second, expand the scope of surveillance to 'triple surveillance': include in surveillance the three components of the causal chain from primary cause (e.g., folic acid insufficiency) to disease occurrence (e.g., spina bifida prevalence) and further to health outcomes (e.g., mortality, morbidity). Third, integrate public health with clinical surveillance: streamline data collection (avoid 'recreational data collection') and use the data rapidly not only for epidemiologic assessment but also for evaluation and improvement of clinical care. Many countries have one or more of the elements of this framework already in place. Typically, however, they are not integrated, and work and data get wasted. Fundamentally, these enhancements require rethinking priorities, partnerships and data sharing policies. By reducing waste (e.g., activities leading to data being collected but not used) they will add value and probably decrease costs. Importantly, such systems can help make visible the health issues of a population and the benefits (or lack thereof) of interventions, and support quality improvement in prevention and delivery of care.