Although rare diseases are rare, patients with rare diseases are numerous, also in primary care practice (PCP). Knowledge about rare diseases and genetics has increased, yet every PCP knows of children or adults who have not yet been diagnosed with a rare disease, even though they could benefit from it. Primary care providers are increasingly expected to provide genetic care in their day-to-day practice and thus recognize and refer patients with possible rare disease on time.

Based on expert opinion, we aimed to support primary care providers in recognizing rare disease patients through identification of relevant features. To this end, in ongoing studies, the number of identified patients with rare disease in primary care practice, the workup, referral process and health care utilization up to being diagnosed are systematically recorded.

Problems in PCP patients that may indicate when to think about a rare syndrome based on expert opinion could be hypotonia, developmental lag, intellectual disability, hyperlaxity, weakness, striking discrepancy between intelligence child and parent, autism spectrum disorder, speech language developmental delay and gastrointestinal problems such as coeliakie.

One in ten individual  (25-30 million Americans) have a rare disease. Therefore, there is extensive opportunity to improve patient care by identifying rare disease patients who currently are not being referred to Clinical Genetics (CG). Furthermore, the monetary costs to patients and their families varies, but fiscal estimates range into the tens of thousands of dollars when accounting for indirect costs such as travel and loss of productivity, which can accrue at a rate of thousands of dollars each year the odyssey continues. Let alone emotional burden to both patient and their family members. By creating a system trained on clinical data from current Diagnostic Odyssey patients we expect to be able to automatically identify similar patients that can be reviewed for potential CG consultation, leading to quicker diagnoses, continuity in patient care, opportunity for treatment, and overall improved patient care and quality of life.