ArticleEuropean journal of human genetics : EJHG2012
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.
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 16 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A theory-informed systematic review of clinicians' genetic testing practices.European journal of human genetics : EJHG · 2018Pooled it
- Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Pooled it
- Letter to the editor in reference to the article entitled 'Laparoscopy for non-palpable undescended testis: comparing outcomes in syndromic and non-syndromic children'.Pediatric surgery international · 2026Article
- A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.Scientific reports · 2017Article
- Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop.Cancer genetics · 2016Review
- Scanning the human genome and the horizon: the potential and pitfalls of pharmacogenetics and stratified medicine.The British journal of general practice : the journal of the Royal College of General Practitioners · 2015Article
- Genetic counselors' views and experiences with the clinical integration of genome sequencing.Journal of genetic counseling · 2014Article
- Are public health professionals prepared for public health genomics? A cross-sectional survey in Italy.BMC health services research · 2014Article
- Article
- Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Journal of neurodevelopmental disorders · 2013Article
- Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.European journal of human genetics : EJHG · 2013Article
- Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.Human mutation · 2013Review
- Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2013Article
- Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2013Article
- Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting.Patient education and counseling · 2013Article
- Quality assurance practices in Europe: a survey of molecular genetic testing laboratories.European journal of human genetics : EJHG · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. There is a need to discuss how to best restructure the genetic services logistically and to determine the clinical utility of genetic testing so that patients can receive appropriate advice and genetic testing. To weigh up the questions and challenges of the new genetic technologies, the European Society of Human Genetics (ESHG) held a series of workshops on 10 June 2010 in Gothenburg. This was part of an ESHG satellite symposium on the 'Changing landscape of genetic testing', co-organized by the ESHG Genetic Services Quality and Public and Professional Policy Committees. The audience consisted of a mix of geneticists, ethicists, social scientists and lawyers. In this paper, we summarize the discussions during the workshops and present some of the identified ways forward to improve and adapt the genetic services so that patients receive accurate and relevant information. This paper covers ethics, clinical utility, primary care, genetic services and the blurring boundaries between healthcare and research.
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Registered trials
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.