ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.Medicina (Kaunas, Lithuania) · 2025Review
- Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.European journal of human genetics : EJHG · 2023Article
- Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples - an evaluation of the 86 genes of the ACMG 'Tier 3' panel.Journal of community genetics · 2022Article
- Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.Human genetics · 2022Observational
- A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Molecular genetics & genomic medicine · 2021Article
- Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.Journal of community genetics · 2021Article
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
- A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.Frontiers in genetics · 2021Article
- Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.Cerebellum (London, England) · 2019Article
- Carrier screening "within the panel".Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Response to Suthers and Mina.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.Prenatal diagnosis · 2019Article
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo provide proof of concept by broadening preconception screening beyond targeted testing to inform reproductive risk in consanguineous couples.
methodsConsanguineous couples were screened for autosomal recessive and X-linked disorders using the TruSight One panel of 4,813 genes associated with human disease.
resultsWe recruited 22 couples, of whom 15 elected to have sequencing. We found four couples to be at risk of autosomal recessive disorders, including one with a child affected by Poretti-Boltshauser syndrome (a diagnosis not made prior to the study) and another previously known to carry a β-globin variant. Two couples were found to carry variants unrelated to known family history. These variants were in the genes C5orf42 (associated with Joubert syndrome and orofaciodigital syndrome) and GYS2 (associated with glycogen synthase deficiency). One known variant was not detected-a single exon deletion in FAM20C. We would not expect to identify this variant with the methodology employed. Of the four variants identified, only the β-globin variant would have been found using available commercial preconception screening panels.
conclusionPreconception screening of consanguineous couples for recessive and X-linked disorders using genomic sequencing is practicable, and is likely to detect many more at-risk couples than any targeted panel could achieve. A couples-based approach greatly reduces the associated analysis and counselling burden.
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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.