Evidence map›Paper›PMID 31209093›Full record

ArticleBMJ open2019

Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.

Royston Ong, Samantha Edwards, Denise Howting, Benjamin Kamien, Karen Harrop, Gianina Ravenscroft, Mark Davis, Michael Fietz, Nicholas Pachter, John Beilby and 1 more

Open access · goldAbstract readClinical Trial Protocol
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 26% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. 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

11 authors at 3 institutions in 1 country.

Royston OngCentre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.ORCID 0000-0002-0997-7921
Samantha EdwardsCentre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
Denise HowtingCentre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
Benjamin KamienGenetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia.
Karen HarropGenetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia.
Gianina RavenscroftCentre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
Mark DavisPathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Michael FietzPathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Nicholas PachterGenetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia.
John BeilbyPathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Nigel LaingCentre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
The University of Western Australia · AUKing Edward Memorial Hospital · AUSir Charles Gairdner Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionPreconception carrier screening (PCS) identifies couples at risk of having children with recessive genetic conditions. New technologies have enabled affordable sequencing for multiple disorders simultaneously, including identifying carrier status for many recessive diseases. The aim of the study was to identify the most effective way of delivering PCS in Western Australia (WA) through the public health system. METHODS AND ANALYSIS: This is a multicentre cohort pilot study of 250 couples who have used PCS, conducted at three sites: (1) Genetic Services of Western Australia, (2) a private genetic counselling practice in Perth and (3) participating general practice group practices in the Busselton region of WA. The primary outcome of the pilot study was to evaluate the feasibility of implementing the comprehensive PCS programme in the WA healthcare system. Secondary outcome measures included evaluation of the psychosocial impact of couples, such as reproductive autonomy; identification of areas within the health system that had difficulties in implementing the programme and evaluation of tools developed during the study. ETHICS AND DISSEMINATION: Approval was provided by the Women and Newborn Health Service Human Research Ethics Committee (HREC) at King Edward Memorial Hospital for Women (RGS0000000946) and the University of Western Australia (UWA) HREC (RA/4/20/4258). Participants may choose to withdraw at any time. Withdrawal will in no way affect participating couples' medical care. Study couples will be redirected to another participating health professional for consultation or counselling in the event of a health professional withdrawing. All evaluation data will be deidentified and stored in a password-protected database in UWA. In addition, all hard copy data collected will be kept in a locked cabinet within a secure building. All electronic data will be stored in a password-protected, backed-up location in the UWA Institutional Research Data Store. All evaluative results will be published as separate manuscripts, and selected results will be presented at conferences.

Indexed as

Genetic Carrier ScreeningPreconception CareAdultFemaleGenetic CounselingHumansMaleMulticenter Studies as TopicPilot ProjectsResearch DesignWestern Australiaattitudesgenetic carrier screeningknowledgepilot study protocolreproductive medicine

Identifiers

PMID31209093
PMCPMC6589024
OpenAlexW2951320859

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.