Evidence map›Paper›PMID 35739291›Full record

ArticleHuman genetics2022

A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.

Jordan Sam, Emma Reble, Rita Kodida, Angela Shaw, Marc Clausen, Mariana Gutierrez Salazar, Salma Shickh, Chloe Mighton, June C Carroll, Susan Randall Armel and 14 more

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–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

2 citing papers in PubMed.

  1. Article
  2. Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
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

24 authors.

Jordan SamGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
Emma RebleGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
Rita KodidaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
Angela ShawGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
Marc ClausenGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
Mariana Gutierrez SalazarGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
Salma ShickhGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
Chloe MightonGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.
June C CarrollUniversity of Toronto, Toronto, ON, Canada.
Susan Randall ArmelUniversity of Toronto, Toronto, ON, Canada.
Melyssa AronsonMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
José-Mario Capo-ChichiUniversity Health Network, Toronto, ON, Canada.
Iris CohnThe Hospital for Sick Children, Toronto, ON, Canada.
Andrea EisenSunnybrook Health Sciences Centre, Toronto, ON, Canada.
Christine ElserUniversity of Toronto, Toronto, ON, Canada.
Tracy GrahamUniversity of Toronto, Toronto, ON, Canada.
Karen OttSunnybrook Health Sciences Centre, Toronto, ON, Canada.
Seema PanchalMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Carolyn PiccininMount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Kasmintan A SchraderBC Cancer, Vancouver, BC, Canada.
Raymond H KimUniversity of Toronto, Toronto, ON, Canada.
Jordan Lerner-EllisUniversity of Toronto, Toronto, ON, Canada. Jordan.Lerner-Ellis@sinaihealth.ca.
Yvonne BombardGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada. yvonne.bombard@utoronto.ca.
Incidental Genomics Study Team

Funding

Canadian Cancer Society Research Institute 705665CIHR 135730CIHR 143310McLaughlin Centre MC-2012-13McLaughlin Family Foundation MC-2014-11-1
6 · The paper itself

Abstract

Genomic sequencing (GS) can reveal secondary findings (SFs), findings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically significant primary and secondary GS results is needed to effectively manage this large volume of results. The aim of this study was to develop a comprehensive approach to communicate all clinically significant primary and SF results. A genomic test report with accompanying patient and provider letters were developed in three phases: review of current clinical reporting practices, consulting with genetic and non-genetics experts, and iterative refinement through circulation to key stakeholders. The genomic test report and consultation letters present a myriad of clinically relevant GS results in distinct, tabulated sections, including primary (cancer) and secondary findings, with in-depth details of each finding generated from exome sequencing. They provide detailed variant and disease information, personal and familial risk assessments, clinical management details, and additional resources to help support providers and patients with implementing healthcare recommendations related to their GS results. The report and consultation letters represent a comprehensive approach to communicate all clinically significant SFs to patients and providers, facilitating clinical management of GS results.

Indexed as

Genome, HumanGenomicsBase SequenceExomeExome SequencingHumans

Identifiers

PMID35739291

What OpenQuestion holds

Textmetadata
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.