Observational studyGenetics in medicine : official journal of the American College of Medical Genetics2024
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Observational study in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature.Human genetics · 2025Pooled it
- When screening and diagnosis converge: participant interpretations of additional findings in the 100,000 genomes project.European journal of human genetics : EJHG · 2026Article
- Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.European journal of human genetics : EJHG · 2026Article
- Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.European journal of human genetics : EJHG · 2026Article
- Opportunistic genomic screening of healthy controls in an Australian biobank.European journal of human genetics : EJHG · 2026Article
- Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.International journal of molecular sciences · 2026Article
- Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.Journal of genetic counseling · 2026Article
- Measuring disease likelihood in genomic ascertainment.American journal of human genetics · 2026Article
- Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.Journal of medical genetics · 2026Article
- Secondary findings after multi-gene panel testing in 7,388 patients with suspected cancer predisposition syndrome.Scientific reports · 2026Article
- "I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.European journal of human genetics : EJHG · 2025Article
- ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing.Journal of human genetics · 2025Article
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- The value of large-scale programmes in human genomics.European journal of human genetics : EJHG · 2025Article
- Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.American journal of human genetics · 2025Article
- Paving the path for implementation of clinical genomic sequencing globally: Are we ready?Health affairs scholar · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
44 authors at 9 institutions in 1 country.
Funding
Abstract
purposeThe UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia (MEN), and von Hippel-Lindau. Here, we report disclosure processes, manifestation of AF-related disease, outcomes, and costs.
methodsAn observational study in an area representing one-fifth of England.
resultsData were collected from 89 adult AF recipients. At disclosure, among 57 recipients of a cancer-predisposition-associated AF and 32 recipients of an FH-associated AF, 35% and 88%, respectively, had personal and/or family history evidence of AF-related disease. During post-disclosure investigations, 4 cancer-AF recipients had evidence of disease, including 1 medullary thyroid cancer. Six women with an HBOC AF, 3 women with a Lynch syndrome AF, and 2 individuals with a MEN AF elected for risk-reducing surgery. New hyperlipidemia diagnoses were made in 6 FH-AF recipients and treatment (re-)initiated for 7 with prior hyperlipidemia. Generating and disclosing AFs in this region cost £1.4m; £8680 per clinically significant AF.
conclusionGeneration and disclosure of AFs identifies individuals with and without personal or familial evidence of disease and prompts appropriate clinical interventions. Results can inform policy toward secondary findings.
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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.