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Record W4412491844 · doi:10.1111/ahg.70011

The Fortunes of Genomic Medicine: A Quarter Century of Promise

2025· article· en· W4412491844 on OpenAlexaboutno aff
Steve Sturdy

Bibliographic record

VenueAnnals of Human Genetics · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsnot available
FundersWellcome Trust
KeywordsQuarter (Canadian coin)Genomic medicineBiologyMedicineGeneticsHistoryComputational biology

Abstract

fetched live from OpenAlex

BACKGROUND: The culmination of the Human Genome Project in the early 2000s came wreathed in promises of a revolution in medicine and healthcare. The ensuing quarter century has seen remarkable growth in genomic medicine, as well as notable shifts in the promissory rhetoric that accompanies it. METHODS: This essay draws on a contextualist close reading of scientific and policy literature published from the 1990s to the present, using thematic and narrative analysis informed by perspectives from the sociology of expectations, to examine the role of different kinds of promissory claims in shaping the development of genomic medicine in the UK, and particularly England, over that period. RESULTS: Early promises about the medical benefits that will follow from the development of genomic medicine have been scaled back and refocused as the possibilities and limitations of genomic technologies have become apparent; while investment has shifted from basic discovery resources aimed at elucidating the genetics of common disorders to clinical facilities focused on the genomics of rare diseases and cancer. Research in these areas has delivered a range of highly-publicised diagnostic and therapeutic innovations, but so far the benefits to patients have generally been modest or confined to relatively small populations, and come at a high cost, both financial and human. Meanwhile, a rather different set of promises, focused on economic growth through biomedical innovation, has been instrumental in shaping how the field of genomic medicine has developed, especially within the National Health Service. One consequence has been a blurring of the distinction between medical care and biomedical research, with genomic medicine patients and their data increasingly being reframed as an economic resource for purposes of commercially-driven innovation. CONCLUSION: In this context, efforts to persuade patients of the personal or public value of research participation, and especially proposals to abandon the principle of clinical non-directiveness in genomic healthcare, raise uncomfortable questions about just whose interests genomic medicine, as currently constituted, is best designed to serve.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.021
Threshold uncertainty score0.284

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.028
GPT teacher head0.344
Teacher spread0.316 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2025
Admission routes1
Has abstractyes

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