{
  "abstract": "Background:: Genetic cascade screening of familial hypercholesterolemia (FH) effectively prevents cardiovascular complications, but it remains unclear how health systems should roll out genetic testing over time. We developed a policy-relevant, forward-looking framework for stepwise economic evaluation on genetic testing, using FH cascade testing in Thailand as a case study.\n\nMethods:: We constructed a decision tree-Markov hybrid model for a cohort of 35-year-old probands with low-density lipoprotein cholesterol above 4.9 mmol/L and their first- and second-degree relatives. We performed stepwise evaluations on conventional three-gene panel testing, whole-exome sequencing (WES), and onward to emerging long-read sequencing (LRS), compared with standard of care from a societal perspective. Conventional economic evaluation compared panel testing and WES using currently available evidence, while early economic evaluation was applied to LRS to identify target product profiles and explore uncertainties.\n\nResults:: The analyses show that panel- and WES-based cascade screening are cost-effective versus standard of care, with incremental cost-effectiveness ratios (ICERs) of Thai baht (THB) 81,494 (€2,146/$2,371) and THB 74,641 (€1,966/$2,172) per quality-adjusted life-year (QALY), respectively. Compared with panel testing, WES generates 0.055 incremental QALYs at an ICER of THB 50,703 (€1,335/$1,475)/QALY. LRS is also cost-effective versus standard of care under target costs and yields 0.04 incremental QALYs/person versus WES, but requires cost reductions of 16.33% to THB 33,468/proband and 46.05% to THB 21,580/proband to surpass WES and dominate the market, respectively.\n\nConclusions:: This forward-looking, stepwise evaluation demonstrates that next-generation sequencing for FH cascade testing can be economically viable in Thailand while advancing precision health under universal healthcare.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 16,
  "authors": [
    {
      "name": "Yue Zhang",
      "orcid": "0009-0000-5690-6117"
    },
    {
      "name": "Parnnaphat Luksameesate"
    },
    {
      "name": "Vorasuk Shotelersuk",
      "orcid": "0000-0002-1856-0589"
    },
    {
      "name": "Jing Lou"
    },
    {
      "name": "Sutinee Soopairin",
      "orcid": "0000-0002-2713-9614"
    },
    {
      "name": "Chanthawat Patikorn"
    },
    {
      "name": "Nattanichcha Kulthanachairojana"
    },
    {
      "name": "Pawarut Wongmanovisut"
    },
    {
      "name": "Thanapol Khuharatanachai"
    },
    {
      "name": "Hwee-Lin Wee",
      "orcid": "0000-0002-7150-1801"
    },
    {
      "name": "Weerapan Khovidhunkit"
    },
    {
      "name": "Poranee Ganokroj"
    },
    {
      "name": "Chanatjit Cheawsamoot"
    },
    {
      "name": "Dimple Butani"
    },
    {
      "name": "Yot Teerawattananon",
      "orcid": "0000-0003-2217-2930"
    },
    {
      "name": "Wenjia Chen",
      "orcid": "0000-0001-8201-7145"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/bwmgwyxxbcfet.bib",
  "cited_by": 0,
  "doi": "10.1038/s43856-026-01953-4",
  "fulltext_url": null,
  "id": "bwmgwyxxbcfet",
  "issns": [
    "2730-664X"
  ],
  "landing_url": "https://www.nature.com/articles/s43856-026-01953-4",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0",
  "metadata_licence": null,
  "native_subjects": [],
  "openalex": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-30",
  "publisher": "Springer Science and Business Media LLC",
  "ris": "https://research.draconitic.com/paper/bwmgwyxxbcfet.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:22Z",
      "native_id": "10.1038/s43856-026-01953-4",
      "source": "feed-nature",
      "url": "https://www.nature.com/articles/s43856-026-01953-4"
    },
    {
      "first_seen": "2026-10-30T12:17:53Z",
      "native_id": "10.1038/s43856-026-01953-4",
      "source": "crossref",
      "url": "https://www.nature.com/articles/s43856-026-01953-4"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "issn:2730-664X",
      "subfield": "general"
    }
  ],
  "title": "Evaluating the cost-effectiveness of next-generation sequencing strategies for familial hypercholesterolemia cascade screening in Thailand",
  "title_text": "Evaluating the cost-effectiveness of next-generation sequencing strategies for familial hypercholesterolemia cascade screening in Thailand",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T00:20:33Z",
  "url": "https://research.draconitic.com/paper/bwmgwyxxbcfet",
  "venue": "Communications Medicine",
  "versions": []
}