Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.,Genetics in Medicine

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Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2019-12-11 , DOI: 10.1038/s41436-019-0702-z
Yvonne Bombard _{1,

2} , Marc Clausen ₂ , Salma Shickh _{1,

2} , Chloe Mighton _{1,

2} , Selina Casalino ₂ , Theresa H M Kim ₃ , Sarah M Muir ₂ , Lindsay Carlsson ₄ , Nancy Baxter _{1,

2,

5} , Adena Scheer _{2,

6} , Christine Elser _{4,

6} , Andrea Eisen ₇ , Seema Panchal ₈ , Tracy Graham ₇ , Melyssa Aronson ₈ , Carolyn Piccinin ₈ , Talia Mancuso ₇ , Kara Semotiuk ₈ , Michael Evans ₂ , June C Carroll _{8,

9} , Kenneth Offit ₁₀ , Mark Robson ₁₀ , Jada G Hamilton ₁₀ , Emily Glogowski ₁₁ , Kasmintan Schrader _{12,

13} , Raymond H Kim _{3,

4,

6} , Jordan Lerner-Ellis _{8,

14} , Kevin E Thorpe _{15,

16} , Andreas Laupacis _{1,

2} ,

Affiliation

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
St. Michael's Hospital, Toronto, ON, Canada.
The Hospital for Sick Children, Toronto, ON, Canada.
University Health Network, Toronto, ON, Canada.
Division of General Surgery, Department of Surgery, University of Toronto, Toronto, ON, Canada.
Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Mount Sinai Hospital, Sinai Health System, Toronto, ON, Canada.
Department of Family and Community Medicine, University of Toronto, Toronto, ON, Canada.
Memorial Sloan Kettering Cancer Center, New York, NY, USA.
GeneDx, Gaithersburg, MD, USA.
Department of Molecular Oncology and Hereditary Cancer Program, BC Cancer Agency, Vancouver, BC, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Applied Health Research Centre, St. Michael's Hospital, Toronto, ON, Canada.

Purpose

To evaluate the effectiveness of the Genomics ADvISER (www.genomicsadviser.com) decision aid (DA) for selection of secondary findings (SF), compared with genetic counseling alone.

Methods

A randomized controlled trial (RCT) was conducted to evaluate whether the Genomics ADvISER is superior to genetic counseling when hypothetically selecting SF. Participants were randomized to use the DA followed by discussion with a genetic counselor, or to genetic counseling alone. Surveys were administered at baseline and post-intervention. Primary outcome was decisional conflict. Secondary outcomes were knowledge, preparation for, and satisfaction with decision-making, anxiety, and length of counseling session.

Results

Participants (n = 133) were predominantly White/European (74%), female (90%), and ≥50 years old (60%). Decisional conflict (mean difference 0.05; P = 0.60), preparation for decision-making (0.17; P = 0.95), satisfaction with decision (–2.18; P = 0.06), anxiety (0.72; P = 0.56), and knowledge of sequencing limitations (0.14; P = 0.70) did not significantly differ between groups. However, intervention participants had significantly higher knowledge of SF (0.39; P < 0.001) and sequencing benefits (0.97; P = 0.01), and significantly shorter counseling time (24.40 minutes less; P < 0.001)

Conclusions

The Genomics ADvISER did not decrease decisional conflict but reduced counseling time and improved knowledge. This decision aid could serve as an educational tool, reducing in-clinic time and potentially health care costs.

中文翻译：

Genomics ADvISER 决策辅助工具对从基因组测序中选择次要发现的有效性：一项随机临床试验。

目的

与单独的遗传咨询相比，评估 Genomics ADvISER (www.genomicsadviser.com) 决策辅助 (DA) 在选择次要发现 (SF) 方面的有效性。

方法

进行了一项随机对照试验 (RCT)，以评估在假设选择 SF 时 Genomics ADvISER 是否优于遗传咨询。参与者被随机分配使用 DA，然后与遗传咨询师讨论，或单独进行遗传咨询。在基线和干预后进行调查。主要结果是决策冲突。次要结果是知识、决策准备和对决策的满意度、焦虑和咨询时间。

结果

参与者 ( n = 133) 主要是白人/欧洲人 (74%)、女性 (90%) 和 50 岁以上 (60%)。决策冲突（平均差 0.05；P = 0.60）、决策准备（0.17；P = 0.95）、对决策的满意度（–2.18；P = 0.06）、焦虑（0.72；P = 0.56）和排序知识限制（0.14；P = 0.70）在各组之间没有显着差异。然而，干预参与者对 SF（0.39；P < 0.001）和测序益处（0.97；P = 0.01）的了解显着更高，咨询时间显着缩短（减少 24.40 分钟；P < 0.001）