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Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.

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Author information

Affiliations

  • 1. Radcliffe Department of Medicine, University of Oxford, United Kingdom.
      Authors
    • Nolan J 1
    (1 author)
  • 2. Health Economics Research Centre, University of Oxford, United Kingdom.
      Authors
    • Buchanan J 2
    (1 author)
  • 3. Oxford Genetic Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
      Authors
    • Taylor J 3
    • Bedenham T 3
    • Broadgate S 3
    • Craft J 3
    • Cranston T 3
    • Gabriel J 3
    • Haeger A 3
    • Hodgkiss C 3
    • Lloyd-Jani A 3
    • O'Rourke AW 3
    • Thomson K 3
    (11 authors)
  • 4. Genomics England, United Kingdom Department of Health and Social Care, United Kingdom.
      Authors
    • Almeida J 4
    • Kasperaviciute D 4
    • Leigh S 4
    • Lopez J 4
    • Thomas E 4
    • Walker S 4
    • Williams E 4
    (7 authors)
  • 5. Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
      Authors
    • Blair E 5
    • Hawkes L 5
    • Stewart H 5
    • Wakelin H 5
    (4 authors)
    • Show all (13)

ORCIDs linked to this article

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 19 Dec 2023, 26(3):101051
https://doi.org/10.1016/j.gim.2023.101051 PMID: 38131308 

Abstract 

Purpose

The 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.

Methods

An observational study in an area representing one-fifth of England.

Results

Data 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.

Conclusion

Generation 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.

Full text links 

Read article at publisher's site: https://doi.org/10.1016/j.gim.2023.101051

Read article for free, from open access legal sources, via Unpaywall: https://openaccess.sgul.ac.uk/id/eprint/115929/1/Additional%20findings%20paper%201.pdfUnpaywall

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Funding 

Funders who supported this work.

NIHR Oxford Biomedical Research Centre

    Wellcome Trust