Evidence map›Paper›PMID 30687495›Full record

ArticleF1000Research2018

A Key Role for the Genetic Counsellor in the Genomics Era.

Flora M Joseph

Abstract read
In one paragraph

Article in F1000Research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Assessing the Ethical Considerations in the Era of Advanced Prenatal Testing and Genetic Counselling - Clinicians' Perspective.Indian journal of community medicine : official publication of Indian Association of Preventive & Social Medicine
    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

1 author.

Flora M JosephAll Wales Medical Genetics Service, Cardiff, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

New genetic testing technologies such as microarrays and whole exome sequencing mean the diagnostic potential for a child with a development disorder is greatly increased over traditional testing techniques.  With this increased potential comes increased expectations from families and professionals about the answers a diagnosis will provide.  However, limitations remain and a proportion of individuals will continue to remain undiagnosed.  In addition, some individuals will receive novel or very rare diagnoses about which very little is known in terms of prognosis and effective treatments.  In this paper, I present an argument for why these families would benefit from additional Genetic Counsellor support and how Clinical Genetics services in the UK could provide this support.  I acknowledge that resources are limited, but as demands on services increase and interactions with families become shorter, I argue that this kind of service should be prioritised, for the benefit of these families.

Indexed as

Genetic CounselingGenomicsHealth PersonnelProfessional RoleChildDevelopmental DisabilitiesHumansParentsUnited Kingdomdevelopmental disabilitiesgenetic counselinggenetic servicesgenetic testingintellectual disabilitypsychological adaptationpsychosocial support systemsuncertainty

Identifiers

PMID30687495
PMCPMC6338239

What OpenQuestion holds

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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.