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Updated: May 31, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians
June C Carroll1, Brenda J Wilson, Judith Allanson
1Ray D. Wolfe Department of Family Medicine, Mount Sinai Hospital, Toronto, Canada. jcarroll@mtsinai.on.ca
Background:
Patients look to their family physicians (FPs) for credible information and guidance in making informed choices about genetic testing. FPs are challenged by lack of knowledge and the rapid pace of genetic discovery. There is an urgent need for effective interventions to facilitate integration of genetics into family medicine.
Objective:
To determine if a multi-faceted knowledge translation intervention would improve skills, including referral decisions, confidence in core genetics competencies and knowledge.
Methods:
Randomized controlled trial involving FPs in four communities in Ontario, Canada (two urban and two rural). The intervention consisted of an interactive educational workshop, portfolio of practical clinical genetics tools and knowledge service called Gene Messenger. Outcome measures included appropriate genetics referral decisions in response to 10 breast cancer scenarios, decisional difficulty, self-reported confidence in 11 genetics core competencies, 3 knowledge questions and evaluation of intervention components 6 months afterwards.
Results:
Among the one hundred and twenty-five FPs randomized, 80 (64%) completed the study (33 control, 47 intervention). Intervention FPs had significantly higher appropriate referral decision scores [6.4/10 [95% confidence interval (CI) 5.8-6.9] control, 7.8/10 (95% CI 7.4-8.2) intervention] and overall self-reported confidence on core genetics competencies [37.9/55 (95% CI 35.1-40.7) control, 47.0/55 (95% CI 44.9-49.2) intervention]. Over 90% of FPs wanted to continue receiving Gene Messengers and would recommend them to colleagues. No significant differences were found in decisional difficulty or knowledge.
Conclusions:
This study demonstrated that a complex educational intervention was able to significantly improve practice intent for clinical genetics scenarios found in primary care, as well as confidence in genetics skills.
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