Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia.

PURPOSE: This study aimed to evaluate the cost effectiveness of population-based, expanded reproductive carrier screening (RCS) for a 300 recessive gene panel from health service and societal perspectives. METHODS: A microsimulation model (PreConMod) was developed using 2016 Australian Census data as the base population. Epidemiologic, health, and indirect cost data were based on literature review. The study assessed the incremental cost effectiveness ratio of expanded RCS compared with (1) no population screening and (2) 3-condition screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome in a single birth cohort. Averted affected births and health service savings with expanded RCS were projected to year 2061. Both one-way and probability sensitivity analyses were conducted to assess the uncertainty of the parameter inputs. RESULTS: Expanded RCS was cost saving compared with no population screening and cost effective compared with the 3-condition screening (incremental cost effectiveness ratio of Australian dollar [AUD] 6287 per quality-adjusted life year gained) at an uptake rate of 50% for RCS, 59% for in vitro fertilization and preimplantation genetic testing, 90% for prenatal diagnosis testing, and 50% for elective termination of affected pregnancies and a cost of AUD595 per couple screened. Our model predicts that expanded RCS would avert one-third of affected births in a single birth cohort and reduce lifetime health service spending by AUD632.0 million. Expanded RCS was estimated to be cost saving from the societal perspective. CONCLUSION: Expanded RCS is cost effective from health service and societal perspectives. Expanded RCS is projected to avert significantly more affected births and result in health service saving beyond those expected from 3-condition screening or no population screening.

The Economic Impact on Australian Patients with Neuroendocrine Tumours.

BACKGROUND AND OBJECTIVE: Little is known about the economic burden to patients and families with neuroendocrine tumours (NETs) for medical out-of-pocket expenses and employment decisions. This study was performed to determine the extent and factors influencing the financial consequences of living with NETs and their effect on quality of life. METHODS: We undertook an online cross-sectional survey using a targeted approach and collected Australian Medicare claims data. Validated surveys measured health-related quality of life (EuroQol 5-dimension 5-level [EuroQol-5D-5L]) and financial toxicity (COmprehenSive Financial Toxicity [COST]), supplemented with questions on employment and retirement, insurance and out-of-pocket medical expenses. Generalised linear models were performed to assess determinants of quality of life and out-of-pocket expenses recorded by Medicare. RESULTS: The survey was answered by 204 patients with a mean age of 59 years who were diagnosed on average 5.2 years ago. Self-reported mean costs were 1698 Australian dollars ($A) (standard deviation [SD] $A2132) over 3 months (median $A877) and were highest for medical tests (mean $A376 [17% of total costs], SD $A722), travel-related expenses (mean $A289 [13%], SD $A559), and specialist visits (mean $A225 [10%], SD $A342) ($A1 = $US0.69). Imaging scans, surgery and travel expenses were the most common cost burdens reported by patients. Having private health insurance was the key determinant of higher out-of-pocket costs. Poorer quality of life was significantly associated with higher financial toxicity, not working due to cancer, nausea/diarrhoea, two or more co-morbidities and younger age. CONCLUSIONS: Medical expenses are substantial for some patients with NETs. Quality of life is adversely affected for patients experiencing financial toxicity and avoiding early retirement is an important issue for supportive care services.

As the bell tolls: a foundation study on pancreatic cancer consumer's research priorities.

BACKGROUND: This is the first investigation of its kind to explore the views of people affected by pancreatic cancer with regard to research priorities. Pancreatic cancer has an extremely poor outlook in terms of early diagnosis, effective treatment and survival. Those affected by the disease generally lack opportunities to voice their needs or concerns in an organised manner, link with others affected by the condition and take part in research. METHODS: This qualitative study adopts a self-selected telephone focussed discussion group approach. Information was obtained from distinct carer and patient groups after adequate controls such as the 'safe space' technique (repeatedly enquiring on and respecting the emotional needs) were implemented to protect participants from undue physical and psychological distress. RESULTS: Five themes emerged overall, with three themes being common between the patients and carers groups. Early detection, clinician communication and public awareness were areas of recurring discussion and consensus for both groups. The fourth theme to emerge for the patient group centred on quality of care, while the fourth theme of the carer group focused on the need for more and improved treatment options. CONCLUSION: Research priorities for pancreatic cancer consumers have been identified via an investigation that was tailored to meet exceptional needs. This research gives us a primary understanding of the role that pancreatic cancer patients can play in identifying areas of research that are responsive to their needs and priorities when suitably planned. Importantly it also provides a much greater understanding of the grim realities of the disease for those affected. This work is likely to be of value to anyone planning to work with those with a time limited, challenging condition.