Evidence map›Paper›PMID 29733724›Full record

ArticleHealth affairs (Project Hope)2018

Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.

Benjamin S Wilfond, Tia L Kauffman, Gail P Jarvik, Jacob A Reiss, C Sue Richards, Carmit McMullen, Marian Gilmore, Patricia Himes, Stephanie A Kraft, Kathryn M Porter and 9 more

Abstract read
In one paragraph

Article in Health affairs (Project Hope), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. The evolving landscape of expanded carrier screening: challenges and opportunities.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Review
  6. 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

19 authors.

Benjamin S WilfondBenjamin S. Wilfond ( benjamin.wilfond@seattlechildrens.org ) is director of the Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, and of the Division of Bioethics and Palliative Care, Department of Pediatrics, University of Washington School of Medicine, all in Seattle, Washington.
Tia L KauffmanTia L. Kauffman is a project director at the Center for Health Research, Kaiser Permanente Northwest, in Portland, Oregon.
Gail P JarvikGail P. Jarvik is a professor in the Division of Medical Genetics, Department of Medicine, and in the Department of Genome Sciences, both at the University of Washington.
Jacob A ReissJacob A. Reiss is a medical geneticist at the Center for Health Research, Kaiser Permanente Northwest.
C Sue RichardsC. Sue Richards is a professor in the Knight Diagnostic Laboratories, Oregon Health & Science University, in Portland.
Carmit McMullenCarmit McMullen is a senior investigator at the Center for Health Research, Kaiser Permanente Northwest.
Marian GilmoreMarian Gilmore is a genetic counselor in the Department of Medical Genetics at Kaiser Permanente Northwest.
Patricia HimesPatricia Himes is a genetic counselor in the Department of Medical Genetics at Kaiser Permanente Northwest.
Stephanie A KraftStephanie A. Kraft is an acting assistant professor in the Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, and in the Division of Bioethics and Palliative Care, Department of Pediatrics, University of Washington School of Medicine.
Kathryn M PorterKathryn M. Porter is a research scientist in the Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute.
Jennifer L SchneiderJennifer L. Schneider is a research associate III at the Center for Health Research, Kaiser Permanente Northwest.
Sumit PunjSumit Punj is a senior clinical scientist in the Clinical Genomics Program, GeneDx, in Gaithersburg, Maryland.
Michael C LeoMichael C. Leo is an investigator at the Center for Health Research, Kaiser Permanente Northwest.
John F DickersonJohn F. Dickerson is an investigator at the Center for Health Research, Kaiser Permanente Northwest.
Frances L LynchFrances L. Lynch is a senior investigator at the Center for Health Research, Kaiser Permanente Northwest.
Elizabeth ClarkeElizabeth Clarke is a research associate III at the Center for Health Research, Kaiser Permanente Northwest.
Alan F RopeAlan F. Rope is a staff physician at Northwest Permanente, Kaiser Permanente Northwest.
Kevin LutzKevin Lutz is publications manager at the Center for Health Research, Kaiser Permanente Northwest.
Katrina A B GoddardKatrina A. B. Goddard is associate director, research programs, at the Center for Health Research, Kaiser Permanente Northwest.

Funding

Clinical Implementation of Carrier Testing using NGSUM1HG007292 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI GODDARD, KATRINA A., WILFOND, BENJAMIN SIMON · 2013 to 2016
$8.2M
CSER RoRC Centralized Support Coordinating CenterU01HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI BURKE, WYLIE G., JARVIK, GAIL PAIRITZ · 2013 to 2016
$3.6M
NHGRI NIH HHS U01 HG007307NHGRI NIH HHS UM1 HG007292
6 · The paper itself

Abstract

Genomics-based carrier screening is one of many opportunities to use genomic information to inform medical decision making, but clinicians, health care delivery systems, and payers need to determine whether to offer screening and how to do so in an efficient, ethical way. To shed light on this issue, we conducted a study in the period 2014-17 to inform the design of clinical screening programs and guide further health services research. Many of our results have been published elsewhere; this article summarizes the lessons we learned from that study and offers policy insights. Our experience can inform understanding of the potential impact of expanded carrier screening services on health system workflows and workforces-impacts that depend on the details of the screening approach. We found limited patient or health system harms from expanded screening. We also found that some patients valued the information they learned from the process. Future policy discussions should consider the value of offering such expanded carrier screening in health delivery systems with limited resources.

Indexed as

GenomicsClinical Decision-MakingDelivery of Health CareFemaleGenetic Carrier ScreeningGenetic Diseases, InbornHealth Services ResearchHumansInfant, NewbornMaleNeonatal ScreeningPreconception CarePregnancyReproductive HealthRisk AssessmentUnited Statescarrier screeninggenetic counselinghealth policy

Identifiers

PMID29733724
PMCPMC10320860

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.