Related Experiment Video
Updated: Jan 8, 2026
13:04
Measuring the Subjective Value of Risky and Ambiguous Options using Experimental Economics and Functional MRI Methods
Published on: September 19, 2012
12.4K
The value of functional genomics: a contingent valuation
Francisco Santos-Gonzalez1,2, Ellenore Martin2, Madeleine Harris2
1Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.
Expert Review of Pharmacoeconomics & Outcomes Research
|December 16, 2025
Summary
Parents and carers of individuals with rare diseases place significant monetary value on functional genomics testing. This willingness to pay highlights the perceived diagnostic utility of these advanced genomic approaches.
Area of Science:
- Genomics
- Rare Diseases
- Health Economics
Background:
- Genomic sequencing can be insufficient for diagnosing rare diseases.
- Functional genomics (transcriptomics, proteomics) offers alternative diagnostic insights.
- This study assesses the economic value of functional genomics for rare disease patients.
Purpose of the Study:
- To estimate the monetary value placed on functional genomics testing by patients and carers of rare diseases.
- To inform economic evaluations and clinical implementation decisions for functional genomics.
Main Methods:
- Contingent valuation survey (triple-bounded dichotomous choice) used.
- Participants included carers and individuals with suspected rare monogenic disorders.
- Multilevel interval regression analyzed willingness to pay (WTP).
Main Results:
- 57 respondents participated, mostly carers (95%).
- Mean WTP for functional genomics testing estimated at $2,522 (US $1,568).
- Confidence intervals provided for WTP estimates.
Conclusions:
- Individuals with undiagnosed rare diseases and their families highly value functional genomics.
- Estimated WTP exceeds the cost of proteomics testing.
- Findings support preference-based evaluations of functional genomics benefits.
Related Concept Videos
01:23Behavioral Genetics and Its Designs
969
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
969
01:09Decision Making: P-value Method
6.8K
The process of hypothesis testing based on the P-value method includes calculating the P- value using the sample data and interpreting it.
First, a specific claim about the population parameter is proposed. The claim is based on the research question and is stated in a simple form. Further, an opposing statement to the claim is also stated. These statements can act as null and alternative hypotheses: a null hypothesis would be a neutral statement while the alternative hypothesis can...
First, a specific claim about the population parameter is proposed. The claim is based on the research question and is stated in a simple form. Further, an opposing statement to the claim is also stated. These statements can act as null and alternative hypotheses: a null hypothesis would be a neutral statement while the alternative hypothesis can...
6.8K
02:02Genomics
39.5K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.5K
01:11Genome-wide Association Studies-GWAS
15.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.2K
01:20Measurement of Bioavailability: Pharmacodynamic Methods
212
Pharmacodynamic methods provide insights into a drug's effects on physiological processes over time and play a crucial role in understanding bioavailability and therapeutic efficacy. These methods can be broadly classified into acute pharmacological and therapeutic response approaches, each with distinct mechanisms and applications.The acute pharmacological response method directly correlates a drug's physiological effects, such as ECG or pupil diameter changes, to its time course in the body.
212
01:24Biodiversity and Human Values
16.3K
Human civilization relies on biodiversity in many ways. Sudden changes in species biodiversity result in environmental changes that can modify weather patterns and therefore human civilizations.
16.3K