ArticleJournal of community genetics2012
On the future of genetic risk assessment.
Article in Journal of community genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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
30 citing papers in PubMed.
- Impact of patient education videos on genetic counseling outcomes after exome sequencing.Patient education and counseling · 2020Trial
- Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.Genetics in medicine open · 2026Article
- Consanguineous couples' experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process.European journal of human genetics : EJHG · 2023Article
- The influence of expanded carrier screening in assisted reproductive techniques: changed the 'game'- review.Annals of medicine and surgery (2012) · 2023Article
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set.Trials · 2021Article
- Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.Journal of community genetics · 2021Article
- Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.Journal of genetic counseling · 2021Article
- The ethics of preconception expanded carrier screening in patients seeking assisted reproduction.Human reproduction open · 2021Article
- Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature.Journal of medical case reports · 2019Review
- The evolving landscape of expanded carrier screening: challenges and opportunities.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Core competencies in genetics for healthcare professionals: results from a literature review and a Delphi method.BMC medical education · 2019Review
- Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies.American journal of human genetics · 2018Article
- Genetic Counseling in the Era of Genomics: What's all the Fuss about?Journal of genetic counseling · 2018Article
- A systematic analysis of online marketing materials used by providers of expanded carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Patient actions and reactions after receiving negative results from expanded carrier screening.Clinical genetics · 2018Article
- Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.BMC medical ethics · 2017Article
- Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.European journal of public health · 2017Article
- Swedish parents' interest in preconception genetic carrier screening.Upsala journal of medical sciences · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing (NGS) techniques have greatly accelerated the molecular elucidation of Mendelian disorders, and affordable NGS-based diagnostic tests are around the corner that promise to detect or rule out mutations in specific subsets of the known disease genes. Whole exome sequencing and shortly afterwards whole genome sequencing (WGS) will become an even more comprehensive alternative to such targeted tests. In view of the current enthusiasm to implement these methods, but also given their rapidly dropping costs, it is quite possible that WGS will soon be adopted as universal intake test in Clinical Genetics. Central databases and large-scale genotype-phenotype comparisons will be required to progressively identify the clinically relevant sequence variants and to distinguish them from neutral polymorphisms in the human genome, and these databases will become indispensable for the interpretation of individual genome sequences. In this scenario, there will be massively growing demand for genetic counselling, but the need for experienced syndromologists will not increase proportionally, as the success of the diagnostic process will become far less dependent on the ability of clinical geneticists to reliably recognize genetic syndromes.
Identifiers
What OpenQuestion holds
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.