Rare diseases (RD) are multi-systemic, complex conditions that can cause great disability. It is pivotal to adequately address the equity in healthcare provision for RD, meeting the needs of people from diverse backgrounds. In Australia, there is a significant disparity in health outcomes between Aboriginal and Torres Strait Islander (hereafter respectfully referred to as Indigenous) people and non-Indigenous people. Indigenous Australians represent 3% of the total population.
It is estimated that 43,000-58,000 Indigenous Australians are living with an RD. Historically, Indigenous Australians face substantial challenges accessing healthcare in comparison to non-Indigenous people. This essay offers a comparison of experiences between Indigenous and non-Indigenous populations and serves to highlight the inequities impeding the diagnosis and treatment of RD.
Compared to non-Indigenous Australians, Indigenous people face greater barriers in seeking a diagnosis. To begin with, 65.2% of the Indigenous population lives in remote or regional areas. As some of these communities can be hundreds of thousands of kilometers from major cities, and generalist healthcare is often provided by visiting doctors who may only attend infrequently. In these settings, RD may be less likely to be recognized because more urgent or acute conditions are prioritized. The signs and symptoms of RD may be vague or subtle, and the presentation may be delayed.
As 80% of RD are genetic in origin, patients are likely to require access to clinical genetic services to diagnose their conditions. Due to limited facilities outside of major cities, and referral bias, Indigenous people face greater difficulties in accessing these services. Additionally, Indigenous genomic reference data is limited in size and representation, so the benefit of genetic services is less likely to be experienced by patients.
Aside from these physical barriers, discriminatory behavior and inherent biases in clinical practice extend diagnostic odysseys for Indigenous patients. In training, medical practitioners develop ‘mental shortcuts’ to diagnose and recognize patterns of diseases. These are usually related to defining traits or population-specific conditions. This becomes problematic when clinicians misdiagnose RD due to inherent biases in the recognition of diseases. Misdiagnosis may then inappropriately prevent further investigation into other signs and symptoms or genetic testing that may indicate RD.
Three out of four Indigenous patients have reported experiencing race-based discrimination
Similarly, negative attitudes towards Indigenous people may hinder the insight and tenacity required to diagnose RD. Three out of four Indigenous patients have reported experiencing race-based discrimination and healthcare practitioners have been found to be less proficient in their performance, less informative, and less supportive of Indigenous patients.
Upon diagnosis, RD patients encounter the next part of their journey: treatment and management. Due to the nature of RD, multiple specialists and regular appointments are often required. A study conducted in Western Australia found that RD patients had 24% longer hospital stays and 110% more hospital discharges in comparison to the general population. Although Australia has a universal healthcare system, many procedures and services are only partially covered. Accordingly, RD patients may be faced with higher healthcare costs. Indigenous populations are disproportionately affected by cost factors as they are more likely to experience disadvantage across socioeconomic indicators, and are more likely to live in rural areas where travel-related costs are high and transport is infrequent.
Furthermore, the ongoing management of RD is complex and the coordination of various appointments and treatment plans prescribed by different clinicians is often left to the patient or primary caregiver. As such, patient adherence, understanding of procedures, and development of a strong therapeutic bond are significant aspects of care in RD. Indigenous people may face more difficulties in this respect due to a lack of culturally appropriate care.
While there are many components to such care, the physical hospital environment and behavior of clinicians are particularly relevant to RD. Many Indigenous patients have described hospital and clinic environments as alienating; Indigenous men, in particular, have found the hospital regime and dependency disempowering. This translates directly into patient outcomes as Indigenous patients are 6 times more likely to discharge themselves from hospitals against medical advice.
In Indigenous culture, regions, referred to as countries, belong to different subsets of Indigenous people, and traveling through the country in a respectful and responsible way is important. Stepping into another country without being welcomed or invited may bring some uneasiness to Indigenous patients. In this manner, ongoing management necessitated by RD is frequently rendered unpleasant and unsuitable.
With respect to culturally appropriate care, a lack of understanding of Indigenous patients’ contextual and cultural backgrounds poses communication barriers. Moreover, inadequate information and the use of jargon and technical terms mean that patients may leave without a proper understanding of their treatment. Communication is pivotal to developing a strong therapeutic bond, encouraging adherence to therapy, understanding treatment risks, and reducing patient anxiety – aspects that are central to the long-term care of RD. Without good communication, health-damaging behaviors can persist and Indigenous patients may delay their attendance or be reluctant to continue treatment.
Clearly, the diagnosis and treatment of RD are disproportionately hindered in the Indigenous population. We observe that the diagnostic odyssey is lengthened by a lack of access to services and biases in clinical practice. Subsequently, treatment and management pose prohibitive cost factors and are impeded by a lack of culturally appropriate care. Addressing the inequities faced by Indigenous Australians comes hand in hand with improving care for RD.