Related Experiment Video
Updated: May 22, 2026

05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association between health-service use and multiplex genetic testing
Robert J Reid1, Colleen M McBride, Sharon Hensley Alford
1Group Health Research Institute, Seattle, Washington, USA. reid.rj@ghc.org
Summary
Multiplex genetic testing offers did not increase healthcare use in healthy adults. While those who chose testing had more pre-test doctor visits, their post-test utilization remained unchanged, suggesting safe direct-to-consumer provision.
Area of Science:
- Genetics and Genomics
- Health Services Research
- Preventive Medicine
Background:
- The rapid identification of genetic variants linked to common diseases is driving the proliferation of multiplex genetic tests.
- These tests provide individuals with information on numerous genetic predispositions, potentially influencing their healthcare-seeking behaviors.
Purpose of the Study:
- To investigate whether offering multiplex genetic susceptibility testing to healthy adults (aged 25-40) impacts their healthcare utilization.
- To determine if direct-to-consumer genetic testing influences the use of physician visits and medical procedures.
Main Methods:
- A study involving 1,599 insured adults aged 25-40 offered multiplex genetic testing for eight common conditions.
- Healthcare utilization was compared pre- and post-testing across three groups: baseline survey only, website visit only, and completed genetic testing.
Main Results:
- Individuals who opted for genetic testing had higher physician visit rates in the pre-test period compared to other groups.
- No statistically significant differences in healthcare utilization (physician visits, tests, or procedures) were observed among the groups in the post-test period.
Conclusions:
- Multiplex genetic susceptibility testing did not lead to increased healthcare utilization after the test was completed.
- The findings support the safe direct-to-consumer provision of multiplex genetic testing without concerns of inappropriately escalating healthcare service use.
Related Concept Videos
Genome-wide Association Studies-GWAS
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...
Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Genomics
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...
