ArticleGenetics in medicine : official journal of the American College of Medical Genetics2010
CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Internet-Based Direct-to-Consumer Genetic Testing: A Systematic Review.Journal of medical Internet research · 2015Pooled it
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- 70-year legacy of the Framingham Heart Study.Nature reviews. Cardiology · 2019Review
- Evidence for extensive pleiotropy among pharmacogenes.Pharmacogenomics · 2016Article
- Practical barriers and ethical challenges in genetic data sharing.International journal of environmental research and public health · 2014Article
- Three clinical experiences with SNP array results consistent with parental incest: a narrative with lessons learned.Journal of genetic counseling · 2014Article
- Experiences and attitudes of genome investigators regarding return of individual genetic test results.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- Funding considerations for the disclosure of genetic incidental findings in biobank research.Clinical genetics · 2013Review
- Incidental copy-number variants identified by routine genome testing in a clinical population.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- Individual genetic and genomic research results and the tradition of informed consent: exploring US review board guidance.Journal of medical ethics · 2012Article
- Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility.Genome research · 2012Article
- Informed consent and genomic incidental findings: IRB chair perspectives.Journal of empirical research on human research ethics : JERHRE · 2011Article
- Public attitudes toward ancillary information revealed by pharmacogenetic testing under limited information conditions.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
- An extended IUPAC nomenclature code for polymorphic nucleic acids.Bioinformatics (Oxford, England) · 2010Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
purposeIncreases in throughput and affordability of genotyping products have led to large sample sizes in genetic studies, increasing the likelihood that incidental genetic findings may occur. We set out to survey potential notifiable variants on arrays used in genome-wide association studies and in direct-to-consumer genetic services.
methodsWe used multiple bioinformatics strategies to identify, and map variants tested for genetic disorders in > or = 2 CLIA-approved laboratories (based on the GeneTests database). We subsequently surveyed 18 commercial single nucleotide polymorphism arrays and HapMap for these variants.
resultsOf 1,362 genes tested according to GeneTests, we identified 298 specific targeted mutations measured in more than or equal to two laboratories, encompassing 56 disorders. Only 88 of 298 mutations could be identified as known single nucleotide polymorphisms in genomic databases. We found 18 of 88 single nucleotide polymorphisms present in HapMap or on commercial single nucleotide polymorphism arrays. Homozygotes for rare alleles of some variants were identified in the Framingham Heart Study, an active genome-wide association studies cohort (n = 8,410).
conclusionsVariants in genes including APOE, F5, HFE, CYP21A2, MEFV, SPINK1, BTD, GALT, and G6PD were found on single nucleotide polymorphism arrays or in the HapMap. Some of these variants may warrant further review to determine their likelihood to trigger incidental findings in the course of genome-wide association studies or direct-to-consumer testing.
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