Pitfalls of open-access sleep medicine: a case of missed congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome is a rare autosomal dominant disorder (with an incidence of about 1 per 200 000 population) associated with sleep hypoventilation not due to a neuromuscular or respiratory disease and with PHOX2B gene mutation.1 The expression of this disorder is variable with patients presenting from the newborn period to adulthood.

Rare cases, such as the one described here, illustrate the pitfalls of non-specialist management of sleep disorders, resulting from a lack of education regarding “red flags”. Our patient had not been clinically assessed by a sleep physician, despite having had symptoms for 4 years, and thus was not identified as a “complex case” rather than “straightforward OSA”. The identification of the family history would have been an indicator of a more complex sleep disorder.

Australian data show increased demands on sleep testing services, with a doubling of polysomnographs funded by Medicare from 339 per 100 000 people in 2005 to 608 per 100 000 in 2012.2 The steep increase in the number of studies coincided with Medicare funding of home sleep studies and with increasing prevalence of OSA; for example, in a cohort of men aged 50–70 years, the prevalence of OSA from 1988 to 1994 was 38.5% and increased to 43.2% in the period 2007 to 2010.3 The major contributor to the increased prevalence of OSA is obesity and ageing.4 The relationship between OSA and cardiovascular mortality has become increasingly recognised,4 resulting in heightened awareness of the condition. Yet there has been little growth in the number of sleep physicians holding Fellowship of the Royal Australasian College of Physicians (RACP), and there are currently less than 300 accredited sleep physicians in Australia. This supply and demand imbalance has generated two trends: (i) the presence of companies providing direct-to-consumer (DTC) sales of positive airway pressure equipment without medical input; and (ii) sleep disorder patients requiring management in general practice without access to sleep physicians.

Traditional models for the management of OSA in Australia involved sleep physician consultation and performance of a diagnostic and treatment study (such as CPAP), with sleep physician consultation at each step. Patients then purchased equipment at a commercial outlet according to the physician’s prescription. However, in Australia the supply of positive airway pressure equipment is not restricted to physician prescription. As a result, there has been a proliferation of the DTC non-medical model, with companies offering both diagnostic sleep study testing and equipment sales through the one location.5 The DTC model raises an ethical issue, as these companies potentially receive financial benefit from both diagnostic testing and medical equipment sales. Medical professionals are discouraged from providing a product recommendation and gaining financial advantage from selling the product (eg, the RACP6 and Australian Medical Association position statements7); this is not necessarily the case in DTC models. The DTC approach represents at best a duality of interest, but at worst a conflict of interest. Further, the duty of care of such non-medical providers to ensure adequate follow-up and to notify patients of their legal obligations is unclear (eg, assessing fitness to drive and licensing).

As demand increases, interest has sparked in primary care models of service provision. In 2013, a study found that in carefully selected patients, a primary care team of up-skilled GPs and community nurses compared with a sleep physician program had similar outcomes in improved subjective sleepiness, with a cost saving of $960 per patient.8 Sleep medicine is only minimally covered in medical school curricula, so primary care providers do not currently possess the required knowledge to manage sleep disorders. Further, there is no formalised up-skilling educational program widely available in Australia. This could be achieved by either greater incorporation of sleep medicine in medical school curricula or establishment of formal postgraduate training programs. In such programs, modules should include diagnostic pathways to identify red-flag scenarios for sleep physician referral. The development of an integrated medical model would address supply and demand issues and fast-track complex cases to specialist centres.

The care of patients with sleep disorders is at a crossroad. The historical model is unsustainable in view of the increased prevalence of OSA; however, the burgeoning of non-medical models potentially increases the risk of patient harm and conflicts of interest. An up-skilled primary care model may provide the best compromise to this dilemma, similar to what has occurred in the management of type 2 diabetes over the past 20 years. However, substantial changes to current education and training are required to build knowledge in primary care, and collaboration between GPs and sleep physicians is necessary to ensure that complex sleep disorders are not missed under the mountain of uncomplicated OSA cases.