Evidence map›Paper›PMID 29595811›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018

Familial communication and cascade testing among relatives of BRCA population screening participants.

Sari Lieberman, Amnon Lahad, Ariela Tomer, Sivan Koka, Malka BenUziyahu, Aviad Raz, Ephrat Levy-Lahad

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed, 3 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

58 citing papers in PubMed, 3 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
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  13. Trends in the Utilization ofCurrent oncology (Toronto, Ont.) · 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

7 authors.

Sari LiebermanFaculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Amnon LahadFaculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Ariela TomerFaculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Sivan KokaMedical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
Malka BenUziyahuMedical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
Aviad RazDepartment of Sociology and Anthropology, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Ephrat Levy-LahadFaculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. lahad@szmc.org.il.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposePopulation BRCA1/BRCA2 screening identifies carriers irrespective of family history, yet this information is actionable for relatives. We examined familial communication rates and cascade testing in the screening setting and assessed sociodemographic and psychosocial predictors.

methodsParticipants in a BRCA1/BRCA2 screening study of healthy Ashkenazi Jews self-administered a family communication questionnaire. Intent to communicate was determined before genetic status was known, along with result communication (carriers and noncarriers) 6 months and 2 years after enrollment. Carriers underwent in-depth interviews and provided cascade testing information.

resultsIn total, 88% (524/595) of questionnaire responders and 97% (30/32) of carriers informed at least one relative. In multivariate analysis, family history (P = 0.005) and greater Satisfaction With Health Decision scores (P < 0.001) predicted communication of results. Among carriers' adult first- and second-degree relatives, 71 (48%) had cascade testing, more commonly performed in first- (58%) than in second-degree relatives (26%, P = 0.0002), and in females (56%) vs. males (36%, P = 0.02). At least 11% remained uninformed.

conclusionFamilial communication rates and characteristics in a screening setting parallel those reported by Cancer Genetics clinics. Universal screening circumvents dependence on familial disclosure. However, our finding that satisfaction-a potentially modifiable factor-predicts communication, raises the hypothesis that improving the testing experience could facilitate familial communication.

Indexed as

AdultBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCommunicationFamilyFemaleGenetic Predisposition to DiseaseGenetic TestingHeterozygoteHumansJewsMaleMass ScreeningMiddle AgedMutationBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanAshkenazi JewsBRCA1/2cascade testing; familial communicationpopulation screening

Identifiers

PMID29595811

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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.