ArticleGenetics in medicine : official journal of the American College of Medical Genetics2009
Evaluating the utility of personal genomic information.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 3 of them syntheses that pooled it.
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
91 citing papers in PubMed, 3 syntheses or guidelines pooled it, 179 citations in OpenAlex.
- The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.Journal of genetic counseling · 2026Pooled it
- Guidance for the Harmonisation and Improvement of Economic Evaluations of Personalised Medicine.PharmacoEconomics · 2021Pooled it
- The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.Genetics in medicine : official journal of the American College of Medical Genetics · 2009Guideline
- EMR documentation of physician-patient communication following genomic counseling for actionable complex disease and pharmacogenomic results.Clinical genetics · 2017Trial
- Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research.Journal of empirical research on human research ethics : JERHRE · 2015Trial
- Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: study rationale, development and design.BMC health services research · 2012Trial
- Return of results is important to heterogeneous research participants: A single-site survey.Journal of clinical and translational science · 2026Article
- Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2024Article
- QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.Health and quality of life outcomes · 2023Article
- Development of a novel measure of advanced cancer patients' perceived utility of secondary germline findings from tumor genomic profiling.PEC innovation · 2023Article
- Review
- Challenges Related to the Use of Next-Generation Sequencing for the Optimization of Drug Therapy.Handbook of experimental pharmacology · 2023Article
- Valuing genetic and genomic testing in France: current challenges and latest evidence.Journal of community genetics · 2022Article
- Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.The patient · 2022Review
- The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions.PharmacoEconomics · 2022Article
- Framing the utility and potential pitfalls of relationship and identity DNA testing across United States immigration contexts.HGG advances · 2022Article
- Geriatricians' Perspectives on the Multiple Dimensions of Utility of Genetic Testing for Alzheimer's Disease: A Qualitative Study.Journal of Alzheimer's disease : JAD · 2022Article
- The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.Frontiers in genetics · 2022Article
- Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.Children (Basel, Switzerland) · 2021Article
- Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.Journal of genetic counseling · 2021Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
In evaluating the utility of human genome-wide assays, the answer will differ depending on why the question is asked. For purposes of regulating medical tests, a restrictive sense of clinical utility is used, although it may be possible to have clinical utility without changing patient's outcomes and clinical utility may vary between patients. For purposes of using limited third party or public health resources, cost effectiveness should be evaluated in a societal rather than individual context. However, for other health uses of genomic information a broader sense of overall utility should be used. Behavioral changes and increased individual awareness of health-related choices are relevant metrics for evaluating the personal utility of genomic information, even when traditional clinical benefits are not manifested. In taking account of personal utility, cost effectiveness may be calculated on an individual and societal basis. Overall measures of utility (including both restrictive clinical measures and measures of personal utility) may vary significantly between individuals depending on potential changes in lifestyle, health awareness and behaviors, family dynamics, and personal choice and interest as well as the psychological effects of disease risk perception. That interindividual variation suggests that a more expansive overall measure of utility could be used to identify individuals who are more likely to benefit from personal genomic information as well as those for whom the risks of personal information may be greater than any benefits.
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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.