Evidence map›Paper›PMID 22234159›Full record

ArticleEuropean journal of human genetics : EJHG2012

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

Martin B Delatycki, Michelle Wolthuizen, Veronica Collins, Elizabeth Varley, Joanna Craven, Katrina J Allen, Lyle C Gurrin, Maryanne Aitken, M Kaye Trembath, Lyndal Bond and 6 more

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 39% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Guideline
  2. Article
  3. Review
  4. Article
  5. A Genomically Informed Education System? Challenges for Behavioral Genetics.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2018
    Article
  6. Responsible implementation of expanded carrier screening.European journal of human genetics : EJHG · 2016
    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

16 authors at 5 institutions in 2 countries.

Martin B DelatyckiBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia. martin.delatycki@ghsv.org.au
Michelle Wolthuizen
Veronica Collins
Elizabeth Varley
Joanna Craven
Katrina J Allen
Lyle C Gurrin
Maryanne Aitken
M Kaye Trembath
Lyndal Bond
Gabrielle R Wilson
Sarah E M Stephenson
Ivan Macciocca
Chriselle Hickerton
Paul J Lockhart
Sylvia A Metcalfe
Murdoch Children's Research Institute · AUUniversity of Melbourne · AURoyal Children's Hospital · AUMRC/CSO Social and Public Health Sciences Unit · GBVictorian Clinical Genetics Services · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

As the results of the Human Genome Project are realised, screening for genetic mutations that predispose to preventable disease is becoming increasingly possible. How and where such screening should best be offered are critical, unanswered questions. This study aimed to assess the acceptability and feasibility of genetic screening for preventable disease, using the model of hereditary haemochromatosis, in high-school students. Screening was offered for the HFE C282Y substitution to 17,638 students. Questionnaires were administered at the time of screening (Q1) and approximately 1 month after results were communicated (Q2). Outcomes assessed were uptake of screening, change in scores of validated anxiety, affect and health perception scales from Q1 to Q2, knowledge and iron indices in C282Y homozygous individuals. A total of 5757 (32.6%) students had screening and 28 C282Y-homozygous individuals (1 in 206) were identified, and none of the 27 individuals who had iron indices measures had significant iron overload. There was no significant change in measures of anxiety, affect or health perception in C282Y homozygous or non-homozygous individuals. Over 86% of students answered each of five knowledge questions correctly at Q1. Genetic population-based screening for a preventable disease can be offered in schools in a way that results in minimal morbidity for those identified at high risk of disease. The results of this study are not only relevant for haemochromatosis, but for other genetic markers of preventable disease such as those for cardiovascular disease and cancer.

Indexed as

AdolescentFeasibility StudiesGenetic TestingGenotypeHemochromatosisHumansMembrane ProteinsSurveys and QuestionnairesMembrane Proteins

Identifiers

PMID22234159
PMCPMC3330225
OpenAlexW2034235119

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.