Trial reportProceedings of the National Academy of Sciences of the United States of America2013
Personalized genomic disease risk of volunteers.
Trial report in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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
27 citing papers in PubMed, 47 citations in OpenAlex.
- Elective genomic sequencing for adults in research, clinical and commercial contexts.BMC medical genomics · 2026Article
- Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026Article
- Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.The Journal of general physiology · 2025Review
- Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.Frontiers in molecular biosciences · 2025Article
- Mutation update for the ACTN2 gene.Human mutation · 2022Review
- A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Molecular genetics & genomic medicine · 2021Article
- Article
- Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium.Genome medicine · 2019Article
- High-frequency actionable pathogenic exome variants in an average-risk cohort.Cold Spring Harbor molecular case studies · 2018Article
- Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- The challenges of the expanded availability of genomic information: an agenda-setting paper.Journal of community genetics · 2018Article
- The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2018Article
- Association of WWOX rs9926344 polymorphism with poor prognosis of hepatocellular carcinoma.Journal of Cancer · 2018Article
- Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.European journal of human genetics : EJHG · 2017Article
- Integrating precision cancer medicine into healthcare-policy, practice, and research challenges.Genome medicine · 2016Article
- Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project.Journal of genetic counseling · 2016Article
- Molecular diagnostic experience of whole-exome sequencing in adult patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium.Journal of personalized medicine · 2016Review
- Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.European journal of human genetics : EJHG · 2016Article
- Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart.International journal of legal medicine · 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
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing (NGS) is commonly used for researching the causes of genetic disorders. However, its usefulness in clinical practice for medical diagnosis is in early development. In this report, we demonstrate the value of NGS for genetic risk assessment and evaluate the limitations and barriers for the adoption of this technology into medical practice. We performed whole exome sequencing (WES) on 81 volunteers, and for each volunteer, we requested personal medical histories, constructed a three-generation pedigree, and required their participation in a comprehensive educational program. We limited our clinical reporting to disease risks based on only rare damaging mutations and known pathogenic variations in genes previously reported to be associated with human disorders. We identified 271 recessive risk alleles (214 genes), 126 dominant risk alleles (101 genes), and 3 X-recessive risk alleles (3 genes). We linked personal disease histories with causative disease genes in 18 volunteers. Furthermore, by incorporating family histories into our genetic analyses, we identified an additional five heritable diseases. Traditional genetic counseling and disease education were provided in verbal and written reports to all volunteers. Our report demonstrates that when genome results are carefully interpreted and integrated with an individual's medical records and pedigree data, NGS is a valuable diagnostic tool for genetic disease risk.
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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.