Evidence map›Paper›PMID 26174937›Full record

ArticleJournal of genetic counseling2016

Non-invasive Prenatal Diagnosis for BRCA Mutations - a Qualitative Pilot Study of Health Professionals' Views.

Jade Bennett, Lyn Chitty, Celine Lewis

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Privacy practices using genetic data from cell-free DNA aneuploidy screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Article
  5. 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

3 authors.

Jade BennettUCL Institute of Child Health, London, UK.
Lyn ChittyClinical and Molecular Genetics, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, Barclay House 37 Queen Square, London, WC1N 3BH, UK.
Celine LewisClinical and Molecular Genetics, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, Barclay House 37 Queen Square, London, WC1N 3BH, UK. celine.lewis@ucl.ac.uk.

Funding

Department of Health RP-PG-0707-10107
6 · The paper itself

Abstract

Non-invasive prenatal diagnosis (NIPD) is a rapidly advancing approach that allows diagnostic testing based on analysis of cell free DNA in maternal plasma. This study aimed to explore the views of health professionals regarding the use of NIPD for BRCA1/2 mutations. Qualitative semi-structured interviews were conducted with eight participants. Whilst participants viewed NIPD in general as a positive step forward in prenatal testing, they were cautious about its use for BRCA testing. Significant ethical concerns emerged regarding testing prenatally for an adult onset condition, that is not fully penetrant, and the possibility of abrogating the rights of the future child to genetic autonomy. Nevertheless, participants did identify some situations whereby the test might be beneficial, such as for individuals with very negative and traumatic personal experiences of cancer desiring reassurance or wanting to prevent passing on the condition. NIPD was also seen as having benefits over invasive testing and pre-implantation genetic diagnosis, the only other options currently available to test prenatally for this condition. Exploring the views of a wider range of clinical specialties as well as patients at risk of hereditary breast cancer would be beneficial.

Indexed as

Genes, BRCA1AdultBreast NeoplasmsFemaleGenetic TestingHealth PersonnelHumansPilot ProjectsPrenatal DiagnosisProfessional CompetenceQualitative ResearchBRCA testingCell-free fetal DNANon-invasive prenatal diagnosisQualitative

Identifiers

What OpenQuestion holds

Textmetadata
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.