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Updated: Jun 6, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
An efficient paradigm for genetic epidemiology cohort creation
Martin Ladouceur1, William D Leslie, Zari Dastani
1Department of Human Genetics, McGill University, Jewish General Hospital, Montreal, Canada.
Developing a rapid, precise, and cost-efficient method for collecting DNA from osteoporotic fracture patients using administrative health data. This approach enables the creation of large genetic epidemiology cohorts for research.
Area of Science:
- Genetic Epidemiology
- Public Health Research
- Biomedical Data Collection
Background:
- Efficiently building large genetic epidemiology cohorts is crucial for advancing disease research.
- Identifying and recruiting participants for genetic studies can be resource-intensive.
- Osteoporotic fractures represent a significant public health concern requiring further genetic investigation.
Purpose of the Study:
- To develop and validate a novel, cost-effective method for creating large DNA collections from individuals with osteoporotic fractures.
- To demonstrate the feasibility of using administrative health-care databases for case ascertainment in genetic studies.
- To establish a substantial DNA biobank for future research on osteoporosis and related genetic factors.
Main Methods:
- Utilized administrative health-care databases to identify women with prior osteoporotic fractures.
- Implemented a rapid and precise DNA collection protocol for identified cases.
- Calculated the cost-efficiency of the DNA sample collection process.
Main Results:
- Successfully collected DNA from 1,130 women with osteoporotic fractures within 14 months.
- Achieved a cost of $54 per DNA sample, demonstrating significant cost-efficiency.
- Established one of the world's largest DNA collections specifically for osteoporotic fractures.
Conclusions:
- The described method offers a rapid, precise, and cost-efficient approach to building large genetic epidemiology cohorts.
- This methodology addresses a critical need in health care research and is adaptable for various diseases identifiable through administrative data.
- The established cohort provides a valuable resource for advancing the understanding of genetic factors in osteoporotic fractures.
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