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Updated: Jun 11, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Randomized control trial comparing genetic counseling service delivery models in an underserved population.
Sayoni Lahiri1, Jacqueline Mersch1, John Zimmerman1
1Simmons Comprehensive Cancer Center, UT Southwestern Medical Center, Dallas, Texas, USA.
Telephone genetic counseling is comparable to in-person services for underserved populations, showing similar knowledge and satisfaction. However, telephone counseling led to higher informed choice but lower genetic testing completion rates, warranting further investigation.
Area of Science:
- Genetics
- Public Health
- Health Services Research
Background:
- Underserved and bilingual populations face barriers to accessing cancer genetic counseling.
- Telehealth models offer potential solutions to improve healthcare accessibility.
- Comparing telephone and in-person genetic counseling is crucial for optimizing service delivery.
Purpose of the Study:
- To compare the effectiveness of telephone versus in-person genetic counseling models.
- To evaluate outcomes in underserved, bilingual patients referred for cancer genetic counseling.
- To assess genetics knowledge, satisfaction, informed choice, and testing completion rates.
Main Methods:
- A prospective, randomized controlled trial involving 201 participants across two county hospital cancer genetics clinics.
- Comparison of pre- and post-counseling genetics knowledge (MMIC), satisfaction (GCSS), and empowerment (GOS).
- Analysis of genetic testing attitudes, informed choice, and completion/cancellation rates using linear regression.
Main Results:
- No significant differences were found in genetics knowledge, attitude, empowerment (GOS), or satisfaction (GCSS) between telephone and in-person counseling.
- Telephone counseling showed a trend towards higher informed choice regarding genetic testing (52.5% vs. 39.0%).
- Genetic testing completion rates were significantly lower in the telephone group (74%) compared to the in-person group (100%).
Conclusions:
- Telephone genetic counseling appears comparable to in-person counseling for underserved populations regarding knowledge, satisfaction, and empowerment.
- The higher informed choice and significantly lower testing completion rates in the telephone arm require further research.
- Telehealth models show promise but necessitate strategies to ensure follow-through with genetic testing decisions.
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