Evidence map›Paper›PMID 27608173›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017

A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.

Yvonne Bombard, Fiona A Miller, Carolyn J Barg, Sarah J Patton, June C Carroll, Pranesh Chakraborty, Beth K Potter, Karen Tam, Louise Taylor, Elizabeth Kerr and 5 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.5field-weighted citation impact, top 16% of its field
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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023
    Review
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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

15 authors at 5 institutions in 1 country.

Yvonne BombardLi Ka Shing Knowledge Institute of St. Michael's Hospital, Toronto, Ontario, Canada.
Fiona A MillerInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0003-4953-6255
Carolyn J BargInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Sarah J PattonInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
June C CarrollDepartment of Family and Community Medicine, Sinai Health System, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0002-5893-4194
Pranesh ChakrabortyNewborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Beth K PotterDepartment of Epidemiology and Community Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Karen TamDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0002-4269-5643
Louise TaylorDivision of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Elizabeth KerrDepartment of Psychology, The Hospital for Sick Children, Toronto, Ontario, Canada.ORCID 0000-0002-9589-6502
Christine DaviesNewborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Jennifer MilburnNewborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Felix RatjenDivision of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Astrid GuttmannInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Robin Z HayeemsInstitute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
University of Toronto · CAHospital for Sick Children · CAChildren's Hospital of Eastern Ontario · CAUniversity of Ottawa · CASt. Michael's Hospital · CA

Funding

CIHR 106505-1
6 · The paper itself

Abstract

purposeNewborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure of NBS for CF.

methodsWe surveyed mothers of carrier infants after NBS (Time 1) and 1 year later (Time 2) to ascertain intended and reported communication of their infants' carrier results to relatives, carrier testing for themselves/other children, and reproductive decisions. A sub-sample of mothers was also interviewed at Time 1 and Time 2.

resultsThe response rate was 54%. A little more than half (55%) of mothers underwent carrier testing at Time 1; another 40% of those who intended to undergo testing at Time 1 underwent testing at Time 2. Carrier result communication to relatives was high (92%), but a majority of participants did not expect the results to influence family planning (65%). All interviewed mothers valued learning their infants' carrier results. Some underwent carrier testing and then shared results with family. Others did not use the results or used them in unintended ways.

conclusionAlthough mothers valued learning carrier results from NBS, they reported moderate uptake of carrier testing and limited influence on family planning. Our study highlights the secondary nature of the benefit of disclosing carrier results of NBS.Genet Med 19 4, 403-411.

Indexed as

ReproductionCystic FibrosisDisclosureFemaleGenetic Carrier ScreeningHealth SurveysHumansInfantInfant, NewbornLongitudinal StudiesMaleMothersNeonatal ScreeningProspective Studies

Identifiers

PMID27608173
PMCPMC5319861
OpenAlexW2509565795

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.