Evidence map›Paper›PMID 29733730›Full record

ArticleHealth affairs (Project Hope)2018

Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature.

Megan C Roberts, W David Dotson, Christopher S DeVore, Erica M Bednar, Deborah J Bowen, Theodore G Ganiats, Ridgely Fisk Green, Georgia M Hurst, Alisdair R Philp, Charité N Ricker and 6 more

Abstract readScoping Review
PubMed Full text at PMC Publisher
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 107 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
107citing papers in PubMed, 6 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

107 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022
    Pooled it
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  3. A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Pooled it
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47 more citing papers are in PubMed but not listed here.

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

16 authors.

Megan C RobertsMegan C. Roberts (megan.roberts@nih.gov) is a Cancer Prevention Fellow in the Division of Cancer Control and Population Sciences, National Cancer Institute, in Rockville, Maryland.
W David DotsonW. David Dotson is a senior coordinating scientist in the Office of Public Health Genomics, Centers for Disease Control and Prevention (CDC), in Atlanta, Georgia.
Christopher S DeVoreChristopher S. DeVore is a Public Health Fellow in the Office of Public Health Preparedness and Response, CDC, and a master of public health candidate at the Rollins School of Public Health, Emory University, in Atlanta.
Erica M BednarErica M. Bednar is a genetic counselor in the Department of Clinical Cancer Genetics and the Cancer Prevention and Control Platform at the University of Texas MD Anderson Cancer Center, in Houston, Texas.
Deborah J BowenDeborah J. Bowen is a professor of bioethics and humanities at the University of Washington, in Seattle.
Theodore G GaniatsTheodore G. Ganiats is director of the National Center for Excellence in Primary Care Research, Agency for Healthcare Research and Quality, in Rockville, Maryland.
Ridgely Fisk GreenRidgely Fisk Green is a Carter Consulting, Inc., contractor in the Office of Public Health Genomics, CDC, and at Carter Consulting, in Atlanta.
Georgia M HurstGeorgia M. Hurst is the director of ihavelynchsyndrome.org, in Evanston, Illinois.
Alisdair R PhilpAlisdair R. Philp is a genetic counselor and a clinical assistant professor at the University of Kansas Hospitals and Clinics, in Westwood.
Charité N RickerCharité N. Ricker is a genetic counselor and clinical instructor at the University of Southern California, in Los Angeles.
Amy C SturmAmy C. Sturm is a professor at the Genomic Medicine Institute, Geisinger, in Danville, Pennsylvania.
Angela M TrepanierAngela M. Trepanier is an associate professor (clinician educator) at the Center for Molecular Medicine and Genetics, Wayne State University, in Detroit, Michigan.
Janet L WilliamsJanet L. Williams is director, Research Genetic Counselors, at the Genomic Medicine Institute, Geisinger, in Danville, Pennsylvania.
Heather A ZierhutHeather A. Zierhut is an assistant professor in genetics, cell biology, and development at the College of Biological Sciences, University of Minnesota Twin Cities, in Minneapolis.
Katherine A WilemonKatherine A. Wilemon is CEO of the Familial Hypercholesterolemia Foundation, in Pasadena, California.
Heather HampelHeather Hampel is associate director of the Division of Human Genetics and of biospecimen research, and a professor of internal medicine, all at the Ohio State University Comprehensive Cancer Center, in Columbus.

Funding

Intramural CDC HHS CC999999
6 · The paper itself

Abstract

Cascade screening is the process of contacting relatives of people who have been diagnosed with certain hereditary conditions. Its purpose is to identify, inform, and manage those who are also at risk. We conducted a scoping review to obtain a broad overview of cascade screening interventions, facilitators and barriers to their use, relevant policy considerations, and future research needs. We searched for relevant peer-reviewed literature in the period 1990-2017 and reviewed 122 studies. Finally, we described 45 statutes and regulations related to the use and release of genetic information across the fifty states. We sought standardized best practices for optimizing cascade screening across various geographic and policy contexts, but we found none. Studies in which trained providers contacted relatives directly, rather than through probands (index patients), showed greater cascade screening uptake; however, policies in some states might limit this approach. Major barriers to cascade screening delivery include suboptimal communication between the proband and family and geographic barriers to obtaining genetic services. Few US studies examined interventions for cascade screening or used rigorous study designs such as randomized controlled trials. Moving forward, there remains an urgent need to conduct rigorous intervention studies on cascade screening in diverse US populations, while accounting for state policy considerations.

Indexed as

FemaleGenetic Diseases, InbornGenetic Predisposition to DiseaseGenetic TestingHumansMaleMass ScreeningPedigreeUnited StatesCascade screeningPrecision medicineScoping review

Identifiers

PMID29733730
PMCPMC11022644

What OpenQuestion holds

Textmetadata
LicenceTDM
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.