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Costs and cost-effectiveness of returning secondary findings from genomic sequencing based on the return of additional findings in the 100,000 Genomes Project.

PURPOSE: To assess costs and cost-effectiveness of returning additional findings from genome sequencing using data from the 100,000 Genomes Project (100kGP). METHODS: A model-based cost-utility analysis combining yield, consent rates, and cost data from the 100kGP with published estimates of downstream costs and quality-adjusted life years expected to accrue over a lifetime, after the identification of a pathogenic variant. RESULTS: The cost of returning additional findings to participants in the 100kGP was £7.1m or £81 per participant, with a yield of 0.85% for consented participants. The estimated lifetime incremental cost per participant was £125 and quality-adjusted life years 0.004, giving an incremental cost-effectiveness ratio of £28,830. Implementing a policy of returning additional findings is unlikely to be cost-effective (ie, 13%) at a willingness-to-pay threshold of £20,000. A short-term cost of returning findings of £43 per participant or lower (compared with the base case of £81) would result in an incremental cost-effectiveness ratio of less than £20,000. Alternatively, cost-effectiveness may be improved by returning additional findings to younger patient populations. CONCLUSION: Return of additional findings following genome sequencing for this group of conditions may not be a cost-effective use of health care system resources. Our cost-effectiveness outcomes rely on published estimates and should be validated through long-term follow-up data.

Humans

The costs of genomic newborn screening in England: A micro-costing analysis from the Generation Study.

PURPOSE: This study estimates the total cost per newborn of delivering genomic newborn screening (gNBS) within the Genomics England-led Generation Study. METHODS: A time-driven activity-based costing approach was used to estimate gNBS costs from recruitment to confirmatory testing. Resource use data were obtained through document review, semi-structured interviews with study staff, and direct observation across six English National Health Service Trusts. Inputs were categorized as labor, consumables, or equipment, with unit costs sourced from published pay scales, catalogs, or literature. Equipment costs were annualized at a discount rate of 3.5%. All costs were estimated in 2025 Great British Pounds (£) from the healthcare providers perspective, including overheads and data storage. A one-way deterministic sensitivity analysis was conducted, varying key cost parameters (±20%) and testing alternative delivery scenarios. RESULTS: gNBS costs £1208 per newborn, with sequencing comprising 58% of the total costs, mainly consumables. The cost was reduced by 20% to £963 when excluding research-specific recruitment and consent activities to reflect the delivery of gNBS as part of routine clinical care. CONCLUSION: This study provides an estimate of gNBS costs, highlighting sequencing as the main cost driver. Combined with evidence on outcomes and health care utilization, these findings will inform future cost-effectiveness analyses, supporting policy decisions regarding national implementation in England.

Neonatal Screening

The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases.

PURPOSE: Indigenous peoples are underrepresented in reference genome libraries. Consequently, rare disease diagnosis may require bespoke bioinformatics analyses of genome sequences. Establishing diagnostic cost is crucial to support policy development for equitable diagnosis of rare diseases. We estimated the cost and cost trajectory of diagnostic genome sequencing and bioinformatics for Indigenous participants with suspected rare diseases. METHODS: We conducted a microcosting study of Indigenous children and their families receiving genome sequencing through Canada's Silent Genomes Project. Invoice data informed the costs of genome sequencing. We conducted a time-and-motion study for bioinformatics analyses, including labor, computing, and data storage costs. RESULTS: With standard bioinformatics, costs ranged from C$3645 (SD: 455) for singletons to C$7402 (SD: 566) for trios. With advanced, bespoke bioinformatics, costs ranged from C$5344 (SD: 634) for singletons to C$9760 (SD: 822) for trios. Genome sequencing was a primary cost driver; however, sequencing costs decreased by 61% over 4 years. Bioinformatics costs ranged from 21.3% to 58.3% of the total costs. The time required for bioinformatics ranged from 71 hours to 215 hours for standard and advanced analyses, respectively. CONCLUSION: Genome sequencing costs decreased over time. Bioinformatics is a significant cost driver, particularly for bespoke analyses arising from nonrepresentative reference libraries.

Humans

Improving the cost-effectiveness of obesity programs: three basic strategies for reducing the cost per pound.

Empirical support is provided for three basic strategies of improving the cost-effectiveness of treatments for obesity. The importance of analyzing both the effectiveness and cost of different program components when attempting to improve cost-effectiveness is illustrated in the first two studies. First, the strength of relationships between changes in different eating behaviors and changes in obesity was assessed for a small sample of obese individuals. Change in only one of eight behaviors investigated was significantly and strongly correlated with change in obesity. Data also were collected on the subjective costs and benefits of changing 36 eating behaviors that are commonly included in treatments for obesity. Some eating behaviors were found to differ greatly in subjective cost and perceived benefit, as measured by clients' ratings of component difficulty and component usefulness. A final, quasi-experimental study demonstrated the importance of developing cost-effective systems for translating principles of treatment for obesity into actual treatment. The impact on cost-effectiveness in mind is illustrated in a comparison of dollars paid by clients in relation to percent reduction in obesity for two weight reduction programs. The studies are discussed as highlighting the importance of measuring the cost and effectiveness of alternative delivery systems for, and different components of, treatments for obesity.

Behavior Therapy

The costs of rheumatoid arthritis. A patient-oriented study of chronic disease costs.

To detail the cost for one year of a chronic disease, 50 patients with Stage III rheumatoid arthritis were surveyed. Direct medical costs for this group were three times the national average, and 58% of these costs were covered by insurance. Indirect costs due to lost income were at least three times the direct medical costs, and transfer payments covered only 42% of these costs. Fifty-eight percent of the study group also sustained a major psychosocial loss. Uncovered income losses were the greatest economic burden for individuals with chronic rheumatoid arthritis. This striking ratio of indirect to direct medical costs has important implications for medical practice and health policy.

Adult

Health costs of air pollution: a study of hospitalization costs.

This study of the hospitalization costs of exposure to air pollution in Allegheny County, Pennsylvania was conducted to determine whether persons exposed to air pollution incurred higher hospital utilization rates and additional costs for treatment. A hospitalization data-base comprising 37,818 total admissions for respiratory, suspect circulatory diseases, and comparison circulatory diseases was tested in a cross-section type analysis for relationships between rates of hospitalization, length of stay, and levels of air quality in the neighborhoods of patients' residence. Air quality was identified using data from 49 monitoring stations. Corrections were made for race, age, sex, smoking habits, median income, and occupation. The results show that hospitalization rates, length of stay, and costs of respiratory and suspect circulatory system diseases were significantly greater among populations residing in the more polluted zones of the County. At average costs for hospitalization in this area in 1972, the total increased cost for the 1.6 million persons in the County was estimated at $9.8 million ($9.1 million for increased hospitalization rates and $0.7 million for increased length of stay). The total health costs resulting from air pollution exposure in this area would be much greater when non-hospitalization costs are also included.

Adolescent

Cost-benefit and cost-effectiveness: methodologies for evaluating innovative pharmaceutical services.

Cost-benefit and cost-effectiveness analysis techniques which can be of assistance in the evaluation of innovative pharmaceutical services are reviewed. Process and outcome measures are considered, and suggested steps in a cost-benefit study are presented. Samples of pharmacy studies using these techniques are appraised. Possible measures for benefits and costs along with literature references for evaluations of innovative pharmaceutical services are presented. Areas of pharmaceutical service discussed are ambulatory patient consultation, unit dose drug distribution, drug information services, monitoring drug therapy in acute care and long-term care, parenteral admixture services, patient and therapy responsibilities, patient discharge interviews, patient drug histories and profiles, and personnel substitutions. Although there have been several encouraging reports on the cost-benefit of pharmaceutical services, more evaluative research is needed to develop programs which maximize the benefit-to-cost ratio to society.

Cost-Benefit Analysis

Benefit-cost and cost-effectiveness analysis: theory and application.

Benefit-cost analysis and cost-effectivensss analysis are terms used with increasing frequency by health planners and those concerned with review and evaluation of specific programs. The economic bases for these formal techniques are however often obscured by adaptations of convenience or misapplications of the concepts by biological scientists (and others). This paper reviews briefly the theory of benefit-cost analysis and its potential as a tool in choosing programs of optimum size, of maximum economic efficiency as a given size, and in choosing amongst worthwhile alternative projects. Because of the difficulties of quantification of necessary data and the political nature of many policy decisions, the technique of benefit-cost analysis seldom finds application but cost-effectiveness emerges as a calculus of more practical use and acceptability. Examples are drawn from WHO papers and the medical literature to illustrate the "benefits and risks" of these techniques.

Cost-Benefit Analysis

The risk and cost of coronary angiography. I. Cost of coronary angiography in Washington State.

The National Guidelines for Health Planning require 300 cardiac studies per year in cardiac catheterization laboratories for adequate economic use and safety. To study how these guidelines would affect existing laboratories, data were collected on the cost of coronary angiography and use of all cardiac catheterization laboratories in Washington. The average cost of coronary angiography was $1,363, with the total cost affected by the duration of hospital stay, cardiac laboratory charges, and professional fees. Total angiographic use ranged from 293 to 791 studies per room, but eight laboratories did not perform 300 cardiac studies during 1977. Health planners recommend high use rates based on the theory that there is an inverse correlation between the number of studies and cost. In this study, the regression equation showed no fall in charges with increased number of studies. Therefore, while it may be reasonable from an economic point of view to expect 300 angiographic cases per year in existing laboratories, there is no economic justification for requiring a certain number of cardiac studies per year.

Angiography

Comparison of cost of preparing reagents in laboratory with cost of using commercial kits.

A comparison of the cost of laboratory-made reagents with that of commercial kits was made for three serum-enzyme estimations and three serum-hormone estimations. The cost of reagents in kit form could only be justified on economic grounds for serum aspartate transaminase, alanine transaminase, and lactic dehydrogenase if the laboratory performed less than about 35 tests per day. It is unlikely that the use of kits for serum tri-iodothyronine, thyroxine, and thyrotrophic hormone can be justified on economic grounds for any workload. It is estimated that between 2 million pounds and 3 million pounds is spent unnecessarily by the National Health Service each year to purchase commercially prepared reagents for the six tests studied.

Alanine Transaminase

Cost analysis in a CMHC: determining the cost of staff time.

The program evaluation and research unit of a community mental health center developed and field-tested a survey form to measure how employees spend their time. The form is divided into direct patient care activities, which include interviewing and testing, conducting therapy, and prescribing medications, and administrative or support activities, which include filling out charts, attending meetings, and training staff. All staff record daily, for one week, the hours and minutes they spend in each activity. Using that data as a base, the evaluation unit can determine the percentage of time staff spend in each activity and the cost of each activity based on staff members' paychecks.

Community Mental Health Centers

Maximum allowable cost: can the government control drug costs?

In 1973 the federal government moved to limit drug reimbursement to providers in federally sponsored or supported programs, to the lowest cost at which the drug is generally and consistently available unless a difference in therapeutic effect can be demonstrated between the brand name and generic drug. This paper examines the political evolution and rationale for this program and explores the issues surrounding the ongoing controversy regarding publicly financed programs offering drug benefits. The authors speculate that the government's first attempt to control prices of pharmaceuticals, prior to enactment of some form of national health insurance, if successful, will call forth pharmaceutical industry strategies which could negate program benefits.

Cost Control

A cost containment committee can help cut overall costs.

The cost containment committee at the University Hospital of Jacksonville has served many purposes. For example, through its activities, managers have gained a better sense of the overall needs of the institution, and the medical staff has learned how complicated resource allociation can be.

Budgets