Up to 12% of the Australian population suffers from autoimmune disorders. Symptoms are often broad (e.g., fatigue, rashes, pain) and can sometimes overlap across, or differ within, disorders. This makes diagnosis difficult for clinicians and frustrating for patients as it can take decades to obtain the correct diagnosis. Anecdotally, self-diagnosis, self-medication and reliance on community support groups are common. From a research perspective, this introduces confounding factors when investigating genomic signals, as well as the efficacy of clinical trials downstream.
To characterise the frequency of these practices and how they might impact our genomic research efforts, we have launched a survey around chronic illness diagnostic journeys. Using network analysis tools, we explored responses for connections around mental health, quality of life, fatigue and symptoms to characterise differences and similarities. We built survey response (phenotypic) networks and assessed clusters for distinguishing features, which could be useful as diagnostic tools.
While still in progress, we have received over 1000 responses across Australia to date, recording over 160 chronic illnesses. The majority of respondents are female (76.6%), which follows current estimates on prevalence. To test for response reliability, we took quality of life scores and assessed the symptoms severity network, finding high consistency. Even though anecdotally described, we were shocked to discover a large fraction of responses (>25%) indicated time to diagnosis well over 5 years, along with up to 55% misdiagnosed at some stage and 20% resorting to self-diagnosis. Over 280 treatments and medication strategies were reported, of which 4.7% of respondents use cannabis for their symptoms, potentially influencing future gene expression studies.
As we continue collecting responses, the data has confirmed that diagnosis and treatment of chronic conditions remains problematic, and that incorporating patient experience is critical for patients and researchers. The study continues to run with information available at https://spoonie-community.netlify.app/