ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank.American journal of human genetics · 2023Article
- NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.BMC medical genetics · 2020Article
- Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.Pediatric pulmonology · 2020Article
- Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.BMC medical ethics · 2017Article
- Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Molecular genetics & genomic medicine · 2017Article
- Personalized or Precision Medicine? The Example of Cystic Fibrosis.Frontiers in pharmacology · 2017Review
- Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Review
- Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.Iranian biomedical journal · 2016Article
- Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.Genetic testing and molecular biomarkers · 2016Article
- Bias in CFTR screening panels.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCarrier screening for mutations contributing to cystic fibrosis (CF) is typically accomplished with panels composed of variants that are clinically validated primarily in patients of European descent. This approach has created a static genetic and phenotypic profile for CF. An opportunity now exists to reevaluate the disease profile of CFTR at a global population level.
methodsCFTR allele and genotype frequencies were obtained from a nonpatient cohort with more than 60,000 unrelated personal genomes collected by the Exome Aggregation Consortium. Likely disease-contributing mutations were identified with the use of public database annotations and computational tools.
resultsWe identified 131 previously described and likely pathogenic variants and another 210 untested variants with a high probability of causing protein damage. None of the current genetic screening panels or existing CFTR mutation databases covered a majority of deleterious variants in any geographical population outside of Europe.
conclusionsBoth clinical annotation and mutation coverage by commercially available targeted screening panels for CF are strongly biased toward detection of reproductive risk in persons of European descent. South and East Asian populations are severely underrepresented, in part because of a definition of disease that preferences the phenotype associated with European-typical CFTR alleles.
Indexed as
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.