Evidence map›Paper›PMID 38943480›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024

Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service.

Emilie S Zoltick, Megan Bell, Madison R Hickingbotham, Ann Chen Wu, Lauren N Galbraith, Jessica L LeBlanc, Christine Y Lu, Jennifer R Leonhard, Dylan M Platt, Hadley Stevens Smith and 3 more

Abstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. 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. 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

13 authors.

Emilie S ZoltickDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA.
Megan BellSanford Imagenetics, Sioux Falls, SD; Department of Genetic Counseling, Augustana University, Sioux Falls, SD. Electronic address: megan.bell@sanfordhealth.org.
Madison R HickingbothamDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA.
Ann Chen WuDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA; Department of Population Medicine, Harvard Medical School, Boston, MA.
Lauren N GalbraithDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA; Pfizer, Inc, New York, NY.
Jessica L LeBlancDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA.
Christine Y LuDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA; Department of Population Medicine, Harvard Medical School, Boston, MA; Kolling Institute, Faculty of Medicine and Health, The University of Sydney and the Northern Sydney Local Health District, Sydney, NSW, Australia; School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Jennifer R LeonhardSanford Imagenetics, Sioux Falls, SD.
Dylan M PlattSanford Imagenetics, Sioux Falls, SD; Department of Genetic Counseling, Augustana University, Sioux Falls, SD.
Hadley Stevens SmithDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA; Department of Population Medicine, Harvard Medical School, Boston, MA.
Robert C GreenDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Ariadne Labs, Boston, MA; The Broad Institute of Harvard and MIT, Cambridge, MA.
Catherine HajekSanford Imagenetics, Sioux Falls, SD; Helix Inc, San Mateo, CA.
Kurt D ChristensenDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA; Department of Population Medicine, Harvard Medical School, Boston, MA; The Broad Institute of Harvard and MIT, Cambridge, MA.

Funding

Cost-effectiveness of Whole Genome Sequencing of Healthy AdultsK01HG009173 · NHGRI · HARVARD PILGRIM HEALTH CARE, INC. · PI CHRISTENSEN, KURT DEREK · 2016 to 2020
$626k
NHGRI NIH HHS K01 HG009173
6 · The paper itself

Abstract

purposeElective genomic testing (EGT) is increasingly available clinically. Limited real-world evidence exists about attitudes and knowledge of EGT recipients.

methodsAfter web-based education, patients who enrolled in an EGT program at a rural nonprofit health care system completed a survey that assessed attitudes, knowledge, and risk perceptions.

resultsFrom August 2020 to April 2022, 5920 patients completed the survey and received testing. Patients most frequently cited interest in learning their personal disease risks as their primary motivation. Patients most often expected results to guide medication management (74.0%), prevent future disease (70.4%), and provide information about risks to offspring (65.4%). Patients were "very concerned" most frequently about the privacy of genetic information (19.8%) and how well testing predicted disease risks (18.0%). On average, patients answered 6.7 of 11 knowledge items correctly (61.3%). They more often rated their risks for colon and breast cancers as lower rather than higher than the average person but more often rated their risk for a heart attack as higher rather than lower than the average person (all P < .001).

conclusionPatients pursued EGT because of the utility expectations but often misunderstood the test's capabilities.

Indexed as

Genetic TestingHealth Knowledge, Attitudes, PracticeAdultAgedFemaleGenetic Predisposition to DiseaseGenomicsHumansMaleMiddle AgedSurveys and QuestionnairesElective genomic testingMotivationsPersonal disease riskPharmacogenomic testingRisk perceptions

Identifiers

PMID38943480
PMCPMC11456384

What OpenQuestion holds

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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.