Evidence map›Paper›PMID 33654192›Full record

Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2021

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.

Salma Shickh, Sara A Rafferty, Marc Clausen, Rita Kodida, Chloe Mighton, Seema Panchal, Justin Lorentz, Thomas Ward, Nicholas Watkins, Christine Elser and 10 more

Abstract readRandomized Controlled Trial
In one paragraph

Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

31 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  12. Animated videos for childhood cancer precision medicine: development and evaluation with parents and patients.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2025
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  19. Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Salma Shickh *Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Sara A Rafferty *Hospital for Sick Children, Toronto, ON, Canada.
Marc ClausenSt. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Rita KodidaSt. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Chloe MightonInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Seema PanchalMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Justin LorentzSunnybrook Health Sciences Centre, Toronto, ON, Canada.
Thomas WardMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Nicholas WatkinsMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Christine ElserUniversity Health Network, Toronto, ON, Canada.
Andrea EisenSunnybrook Health Sciences Centre, Toronto, ON, Canada.
June C CarrollMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Emily GlogowskiGeneDx, Gaithersburg, MD, USA.
Kasmintan A SchraderBC Cancer, Vancouver, BC, Canada.
Jordan Lerner-EllisLunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Raymond H KimHospital for Sick Children, Toronto, ON, Canada.
David ChitayatHospital for Sick Children, Toronto, ON, Canada.
Cheryl ShumanHospital for Sick Children, Toronto, ON, Canada.
Yvonne BombardInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. yvonne.bombard@utoronto.ca.
Incidental Genomics Study Team

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
CIHR GSD-164222CIHR GSD-425969NCI NIH HHS P30 CA008748
6 · The paper itself

Abstract

purposeAlternative models of genetic counseling are needed to meet the rising demand for genomic sequencing. Digital tools have been proposed as a method to augment traditional counseling and reduce burden on professionals; however, their role in delivery of genetic counseling is not established. This study explored the role of the Genomics ADvISER, a digital decision aid, in delivery of genomic counseling.

methodsWe performed secondary analysis of 52 pretest genetic counseling sessions that were conducted over the course of a randomized controlled trial evaluating the effectiveness of the Genomics ADvISER. As part of the trial, participants were randomized to receive standard counseling or use the tool and then speak with a counselor. A qualitative interpretive description approach using thematic analysis and constant comparison was used for analysis.

resultsIn the delivery of genomic counseling, the Genomics ADvISER contributed to enhancing counseling by (1) promoting informed dialogue, (2) facilitating preference-sensitive deliberation, and (3) deepening personalization of decisions, all of which represent fundamental principles of patient-centered care: providing clear high-quality information, respecting patients' values, preferences, and expressed needs, and providing emotional support.

conclusionThis study demonstrates that our digital tool contributed to enhancing patient-centered care in the delivery of genomic counseling.

Indexed as

CounselorsGenomicsCounselingGenetic CounselingHumansPatient-Centered Care

Identifiers

PMID33654192
PMCPMC9306004

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.