Evidence map›Paper›PMID 25966636›Full record

ArticleEuropean journal of human genetics : EJHG2016

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Kim C A Holtkamp, Merel C van Maarle, Maria J E Schouten, Wybo J Dondorp, Phillis Lakeman, Lidewij Henneman

Open access · hybridAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

15 citing papers in PubMed, 31 citations in OpenAlex.

  1. Review
  2. Article
  3. Towards a patient-centred classification of genetic disease severity.European journal of human genetics : EJHG · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. The evolving landscape of expanded carrier screening: challenges and opportunities.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. 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

6 authors at 3 institutions in 1 country.

Kim C A HoltkampDepartment of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Merel C van MaarleDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Maria J E SchoutenDepartment of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Wybo J DondorpDepartment of Health, Ethics and Society, Research Institutes CAPHRI and GROW, Maastricht University, Maastricht, The Netherlands.
Phillis LakemanDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Lidewij HennemanDepartment of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
EMGO Institute for Health and Care Research · NLAcademic Medical Center · NLMaastricht University · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ancestry-based carrier screening in the Ashkenazi Jewish population entails screening for specific autosomal recessive founder mutations, which are rarer among the general population. As it is now technically feasible to screen for many more diseases, the question arises whether this population prefers a limited ancestry-based offer or a pan-ethnic expanded carrier screening panel that goes beyond the diseases that are frequent in their own population, and is offered regardless of ancestry. An online questionnaire was completed by 145 individuals from the Dutch Jewish community (≥ 18 years) between April and July 2014. In total, 64.8% were aware of the existence of ancestry-based carrier screening, and respondents were generally positive about screening. About half (53.8%) preferred pan-ethnic expanded carrier screening, whereas 42.8% preferred ancestry-based screening. Reasons for preferring pan-ethnic screening included 'everyone has a right to be tested', 'fear of stigmatization when offering ancestry-based panels', and 'difficulties with identifying risk owing to mixed backgrounds'. 'Preventing high healthcare costs' was the most important reason against pan-ethnic carrier screening among those in favor of an ancestry-based panel. In conclusion, these findings show that people from the Dutch Jewish community have a positive attitude regarding carrier screening in their community for a wide range of diseases. As costs of expanded carrier screening panels are most likely to drop in the near future, it is expected that these panels will receive more support in the future.

Indexed as

Genetic TestingHeterozygoteAdolescentAdultAgedFemaleFounder EffectGenetic Carrier ScreeningGenetic Diseases, InbornGenetic Predisposition to DiseaseHumansJewsMaleMiddle AgedNetherlandsPregnancy

Identifiers

PMID25966636
PMCPMC4717216
OpenAlexW1595342113

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.