Early Molecular Diagnosis of Cancer Proven More Cost-Effective Than Subsequent Treatment of Advanced Disease

Applying expensive diagnostic methods in clinical practice will ultimately cost society 5 to 10 times less than the expenditures associated with late-stage cancer treatment, including subsequent disability pensions and sick leave payments—these are the findings from a study conducted by researchers at the HSE Faculty of Economic Sciences Marina Kolosnitsyna and Anastasia Vladimirskaya in collaboration with colleagues at EVOGEN, a medical genetic laboratory, and the Department of Health of the Yamalo-Nenets Autonomous Okrug. The study results have been published in Social Aspects of Population Health.

Approximately 10% of all malignancies stem from a genetic predisposition, where mutations in specific genes are linked to a significantly elevated risk of developing the disease, sometimes as high as 90%. However, the detection rates of many hereditary oncological diseases in Russia are low. The researchers cite several factors that complicate early cancer detection, including the absence of medical genetics services in certain regions, low public awareness, and the onset of cancer at a young age when cancer alertness may be low. Consequently, many individuals in the high genetic risk group, especially blood relatives of patients with inherited cancers, go without assessment and diagnosis, often leading to significant financial losses for society.

Molecular diagnostics facilitates the detection and analysis of a growing number of hereditary cancers. A significant breakthrough in this field was achieved following the development of next-generation sequencing (NGS) methods. This new technology enables massive parallel processing of large DNA segments and thousands of genes, facilitating the analysis of all genes and their mutations potentially associated with the onset of malignancies. However, this method remains relatively expensive for routine use in clinical practice and is employed primarily in scientific research projects.

A team of researchers at the HSE Faculty of Economic Sciences, in collaboration with their colleagues at EVOGEN, a medical genetic laboratory, and at the Department of Health of the Yamalo-Nenets Autonomous Okrug (YNAO), have investigated how the clinical use of molecular genetic diagnostics may impact the financial burden on both the state and households. The authors used the findings from whole-genome sequencing studies involving 200 patients in YNAO diagnosed with various oncological diseases and suspected hereditary factors of cancer predisposition.

In order to examine the economic feasibility of applying the method, the authors constructed models for two scenarios of medical assessment.

The first scenario involves substantial expenditure on whole-genome sequencing for the patients and targeted sequencing for the relatives to identify specific mutations. Detecting a mutation likely to be the cause of a primary neoplasm makes it possible to assess the risk of developing secondary tumours. Quite often, they can be detected at an early stage. There is a 50% likelihood of detecting the same mutation in the patient's first-degree relatives, and if the mutation is confirmed, they are examined for an early diagnosis of a neoplasm. When oncological diseases are detected and treated at an early stage, patients typically do not lose their ability to work.

The second scenario does not involve investment in genome sequencing. In this scenario, patients and their relatives have a 60% probability of early cancer detection and a 40% probability of cancer detection at advanced stages. Late detection necessitates costly treatment, often resulting in disability and a high likelihood of the cancer patient's death within five years.

Next, the economists compared the societal costs of each of the two scenarios, considering both the direct costs of providing whole-genome and targeted sequencing, and the indirect costs stemming from the loss of human capital due to decreased productivity or death. In total, five types of costs were estimated: sequencing, treatment, temporary disability payments, disability pensions, and loss of earnings due to disability or death of patients. The researchers assessed the costs associated with both courses of action, while factoring in the probability of developing cancer.

The researchers concluded that despite the significant initial expenditures, the sequencing scenario is far more cost-effective for both patients and society. For instance, the whole-genome sequencing of 200 patients helped identify a patient's relative, aged 45, who was at risk of developing cancer.

The total cost of sequencing and subsequent treatment at an early stage, considering the 70% probability of the said relative developing cancer, amounted to 1,789,307.53 roubles. If the second scenario is pursued for the same individual, the potential total losses could amount to 9,162,706.38 roubles. This indicates that the first scenario is over five times more cost-effective than the second. A comparison of societal costs involved in the first and second scenarios for other high-risk patients yielded similar results.

According to the researchers, the costs in both scenarios are highly sensitive to changes in the age, gender, and number of close relatives of the examined patient, and the sample of 200 people may be too small to provide robust evidence. However, the study demonstrates significant cost-effectiveness: in all cases examined by the authors, the societal costs in the sequencing scenario ultimately proved to be much lower, in some instances by a factor of 10.

The effect certainly depends on the number of patients and their relatives covered by testing. Also important is the type of cancer for which the effect is estimated. Our calculations consider the genetic risks associated with common malignancies such as breast cancer, prostate cancer, colorectal cancer, and ovarian cancer. This particular project, therefore, has been successful.

Maria Makarova
Head, Oncogenetics Department, EVOGEN, medical geneticist

Diagnostic whole-genome sequencing will be more effective the greater the number of patients and their relatives covered by the programme, and the younger these persons are. Moreover, a widespread application of whole-genome and targeted studies will inevitably lead to lower costs due to economies of scale, further contributing to cost-effectiveness.

Marina Kolosnitsyna
Professor, Faculty of Economic Sciences, HSE University

Massive whole-genome screening may become feasible in the future with further significant reductions in cost, training of qualified personnel, and development of laboratories capable of handling whole-genome data.
IQ

February 21