References
Abettan, C. (2016). Between hype and hope: What is really at stake with personalized medicine?. Medicine, Health Care and Philosophy, 19, 423-430.
Adams, S. A., & Petersen, C. (2016). Precision medicine: opportunities, possibilities, and challenges for patients and providers. Journal of the American Medical Informatics Association, 23(4), 787-790.
Ahmed, M. U., Saaem, I., Wu, P. C., & Brown, A. S. (2014). Personalized diagnostics and biosensors: a review of the biology and technology needed for personalized medicine. Critical Reviews in Biotechnology, 34(2), 180-196.
Aronson, S. J., & Rehm, H. L. (2015). Building the foundation for genomics in precision medicine. Nature, 526(7573), 336–342. https://doi.org/10.1038/nature15816
Ashley, E. A. (2015). The precision medicine initiative: A new national effort. JAMA, 313(21), 2119–2120. https://doi.org/10.1001/jama.2015.3595
Badzek, L., Henaghan, M., Turner, M., & Monsen, R. (2013). Ethical, legal, and social issues in the translation of genomics into health care. Journal of Nursing Scholarship, 45(1), 15-24.
Barry, M. J., & Edgman-Levitan, S. (2012). Shared decision making—The pinnacle patient-centered care.
Basu, A., et al. (2016). A framework for prioritizing research investments in precision medicine. Medical Decision Making, 36(5), 567–580.https://doi.org/10.1177/0272989X15610780
Beskow, L. M., Friedman, J. Y., Hardy, N. C., Lin, L., & Weinfurt, K. P. (2010). Developing a simplified consent form for biobanking. PLoS One, 5(10), e13302.
Breton, C. V., Landon, R., Kahn, L. G., Enlow, M. B., Peterson, A. K., Bastain, T., ... & Fry, R. (2021). Exploring the evidence for epigenetic regulation of environmental influences on child health across generations. Communications biology, 4(1), 769.
Brothers, K. B., & Rothstein, M. A. (2015). Ethical, legal and social implications of incorporating personalized medicine into healthcare. Personalized medicine, 12(1), 43-51.
Bunnik, E. M., Schermer, M. H., & Janssens, A. C. J. (2011). Personal genome testing: test characteristics to clarify the discourse on ethical, legal and societal issues. BMC medical ethics, 12, 1-13.
Chambers, D. A., et al. (2016). Convergence of implementation science, precision medicine, and the learning health care system: A new model for biomedical research. JAMA, 315(18), 1941–1942. https://doi.org/10.1001/jama.2016.3867
Chiapperino, L., & Testa, G. (2016). The epigenomic self in personalized medicine: between responsibility and empowerment. The Sociological Review, 64(1_suppl), 203-220.
Clinical Oncology, 33(19), 2084–2091. https://doi.org/10.1200/JCO.2014.59.3665
Cohen, S. A., & Leininger, A. (2014). The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. The Application of Clinical Genetics, 7, 147–158. https://doi.org/10.2147/TACG.S51483
Collins, F. S., & Varmus, H. (2015). A new initiative on precision medicine. The New England Journal of Medicine, 372(9), 793–795. https://doi.org/10.1056/NEJMp1500523
Cordeiro, J. V. (2014). Ethical and legal challenges of personalized medicine: paradigmatic examples of research, prevention, diagnosis and treatment. Revista Portuguesa de Saúde Pública, 32(2), 164-180.
Curran, G. M., et al. (2012). Effectiveness-implementation hybrid designs: Combining elements of clinical effectiveness and implementation research to enhance public health impact. Medical Care, 50(3), 217–226. https://doi.org/10.1097/MLR.0b013e3182408812
Damschroder, L. J., et al. (2009). Fostering implementation of health services research findings into practice: A consolidated framework for advancing implementation science. Implementation Science, 4, 50. https://doi.org/10.1186/1748-5908-4-50
De Vries, J., Bull, S. J., Doumbo, O., Ibrahim, M., Mercereau-Puijalon, O., Kwiatkowski, D., & Parker, M. (2011). Ethical issues in human genomics research in developing countries. BMC medical ethics, 12, 1-10.
Desmond, A., et al. (2015). Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncology, 1(7), 943–951.https://doi.org/10.1001/jamaoncol.2015.2690
Duconge, J., et al. (2015). Why admixture matters in genetically-guided therapy: Missed targets in the COAG and EU-PACT trials. Puerto Rico Health Sciences Journal, 34(3),175–177.
Evans, J. P., & Rothschild, B. B. (2012). Return of results: not that complicated?. Genetics in Medicine, 14(4), 358-360.
Evans, W. E. (2003). Pharmacogenomics: Marshalling the human genome to individualize drug therapy. Gut, 52(Suppl 2), ii10–ii18. https://doi.org/10.1136/gut.52.suppl_2.ii10
Fasanelli, F., Baglietto, L., Ponzi, E., Guida, F., Campanella, G., Johansson, M., ... & Vineis, P. (2015). Hypomethylation of smoking-related genes is associated with future lung cancer in four prospective cohorts. Nature communications, 6(1), 10192.
Fiscella, K., et al. (2015). Ethical oversight in quality improvement and quality improvement research: New approaches to promote a learning health care system. BMC Medical Ethics, 16, 63. https://doi.org/10.1186/s12910-015-0056-2
Fisher, E. S., et al. (2016). Implementation science: A potential catalyst for delivery system reform. JAMA, 315(3), 339–340. https://doi.org/10.1001/jama.2015.17949
Gallego, C. J., et al. (2015). Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: A cost-effectiveness analysis. Journal of
Garcia-Codina, O., Juvinyà-Canal, D., Amil-Bujan, P., Bertran-Noguer, C., González-Mestre, M. A., Masachs-Fatjo, E., ... & Saltó-Cerezuela, E. (2019). Determinants of health literacy in the general population: results of the Catalan health survey. BMC public health, 19, 1-12.
Grady, C., & Wendler, D. (2013). Making the transition to a learning health care system. The Hastings Center Report, Spec No, S32–S33. https://doi.org/10.1002/hast.137
Green, E. D., Guyer, M. S., National Human Genome Research Institute Overall leadership Green Eric D. Guyer Mark S., & Coordination of writing contributions (see Acknowledgements for list of other contributors) Manolio Teri A. Peterson Jane L. (2011). Charting a course for genomic medicine from base pairs to bedside. Nature, 470(7333), 204-213.
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., ... & Biesecker, L. G. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in medicine, 15(7), 565-574.
Hall, M. J., et al. (2016). Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond. Gynecologic Oncology, 140(4), 565–574.https://doi.org/10.1016/j.ygyno.2016.01.019
Hansson, M. G. (2010). Taking the patient’s side: the ethics of pharmacogenetics. Personalized Medicine, 7(1), 75-85.
Joly, Y., Ngueng Feze, I., & Simard, J. (2013). Genetic discrimination and life insurance: a systematic review of the evidence. BMC medicine, 11, 1-15.
Joly, Y., Saulnier, K. M., Osien, G., & Knoppers, B. M. (2014). The ethical framing of personalized medicine. Current opinion in allergy and clinical immunology, 14(5), 404-408.
Joly, Y., So, D., Saulnier, K., & Dyke, S. O. (2016). Epigenetics ELSI: darker than you think?. Trends in Genetics, 32(10), 591-592.
Juengst, E. T., Settersten, R. A., Fishman, J. R., & McGowan, M. L. (2012). After the revolution? Ethical and social challenges in ‘personalized genomic medicine’. Personalized medicine, 9(4), 429-439.
Kelley, M., et al. (2015). Patient perspectives on the learning health system: The importance of trust and shared decision making. The American Journal of Bioethics,15(9), 4–17. https://doi.org/10.1080/15265161.2015.1062163
Kimmel, S. E., et al. (2013). A pharmacogenetic versus a clinical algorithm for warfarin dosing. The New England Journal of Medicine, 369(23), 2283–2293.https://doi.org/10.1056/NEJMoa1310669
Kirk, M. A., et al. (2016). A systematic review of the use of the consolidated framework for implementation research. Implementation Science, 11, 72. https://doi.org/10.1186/s13012-016-0437-z
Kittles, R. (2012). Genes and Environments. Ethnicity & disease, 22(3), 43-46.
Knoppers, B. M. (2010). Consent to ‘personal’genomics and privacy: Direct-to-consumer genetic tests and population genome research challenge traditional notions of privacy and consent. EMBO reports, 11(6), 416-419.
Langanke, M., Brothers, K. B., Erdmann, P., Weinert, J., Krafczyk-Korth, J., Dörr, M., ... & Assel, H. (2011). Comparing different scientific approaches to personalized medicine: research ethics and privacy protection. Personalized medicine, 8(4), 437-444.
Maglo, K. N. (2012). Group-based and personalized care in an age of genomic and evidence-based medicine: a reappraisal. Perspectives in Biology and Medicine, 55(1), 137-154.
Mallal, S., et al. (2008). HLA-B*5701 screening for hypersensitivity to abacavir. The New England Journal of Medicine, 358(6), 568–579.https://doi.org/10.1056/NEJMoa0706135
Meslin, E. M., & Cho, M. K. (2010). Research ethics in the era of personalized medicine: updating science’s contract with society. Public Health Genomics, 13(6), 378-384.
Nelson, A. (2011). Body and soul: The Black Panther Party and the fight against medical discrimination. U of Minnesota Press.
Ormond, K. E., & Cho, M. K. (2014). Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues. Personalized Medicine, 11(2), 211-222.
Ormond, K. E., & Cho, M. K. (2014). Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues. Personalized Medicine, 11(2), 211-222.
Page, M. J., McKenzie, J. E., Bossuyt, P. M., Boutron, I., Hoffmann, T. C., Mulrow, C. D., ... & Moher, D. (2021). The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. International journal of surgery, 88, 105906.
Pal, T., & Vadaparampil, S. T. (2012). Genetic risk assessments in individuals at high risk for inherited breast cancer in the breast oncology care setting. Cancer Control, 19(4),255–266. https://doi.org/10.1177/107327481201900402
Petersen, K. E., Prows, C. A., Martin, L. J., & Maglo, K. N. (2014). Personalized medicine, availability, and group disparity: an inquiry into how physicians perceive and rate the elements and barriers of personalized medicine. Public Health Genomics, 17(4), 209-220.
Pharmacology and Therapeutics, 89(3), 387–391. https://doi.org/10.1038/clpt.2010.320
Pirmohamed, M., et al. (2013). A randomized trial of genotype-guided dosing of warfarin. The New England Journal of Medicine, 369(24), 2294–2303.https://doi.org/10.1056/NEJMoa1311386
Prasad, V., & Ioannidis, J. P. (2014). Evidence-based de-implementation for contradicted, unproven, and aspiring healthcare practices. Implementation Science, 9(1), 1.https://doi.org/10.1186/1748-5908-9-1
Pratt, B. (2019). Inclusion of marginalized groups and communities in global health research priority-setting. Journal of Empirical Research on Human Research Ethics, 14(2), 169-181.
Relling, M. V., et al. (2011). Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clinical
Relling, M. V., et al. (2013). Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update.Clinical Pharmacology and Therapeutics, 93(3), 324–325.https://doi.org/10.1038/clpt.2013.4
Rosenberg, N. A., Huang, L., Jewett, E. M., Szpiech, Z. A., Jankovic, I., & Boehnke, M. (2010). Genome-wide association studies in diverse populations. Nature Reviews Genetics, 11(5), 356-366.
Rotimi, C. N., & Marshall, P. A. (2010). Tailoring the process of informed consent in genetic and genomic research. Genome Medicine, 2(3), 1-7.
Sacristán, J. A. (2013). Patient-centered medicine and patient-oriented research: improving health outcomes for individual patients. BMC medical informatics and decision making, 13(1), 1-8.
Salari, P., & Larijani, B. (2017). Ethical issues surrounding personalized medicine: a literature review. Acta Medica Iranica, 209-217.
Schaefer, G. O., Tai, E. S., & Sun, S. (2019). Precision medicine and big data: The application of an ethics framework for big data in health and research. Asian Bioethics Review, 11(3), 275-288.
Schleidgen, S., & Marckmann, G. (2013). Re-focusing the ethical discourse on personalized medicine: a qualitative interview study with stakeholders in the German healthcare system. BMC medical ethics, 14(1), 1-8.
Stein, D. T., & Terry, S. F. (2013). Reforming biobank consent policy: a necessary move away from broad consent toward dynamic consent. Genet Test Mol Biomarkers, 17(12), 855-6.
Stunnenberg, H. G. (2016). International Human Epigenome Consortium & Hirst, M. The international human epigenome consortium: a blueprint for scientific collaboration and discovery. Cell, 167(7).
Suldovsky, B. (2016). In science communication, why does the idea of the public deficit always return? Exploring key influences. Public understanding of science, 25(4), 415-426.
Tajdar, D., Lühmann, D., Fertmann, R., Steinberg, T., van den Bussche, H., Scherer, M., & Schäfer, I. (2021). Low health literacy is associated with higher risk of type 2 diabetes: a cross-sectional study in Germany. BMC public health, 21(1), 1-12.
Timmermans, S., & Buchbinder, M. (2010). Patients-in-waiting: living between sickness and health in the genomics era. Journal of health and social behavior, 51(4), 408-423.
Wagner, J. K., Mozersky, J. T., & Pyeritz, R. E. (2014). “Use it or lose it” as an alternative approach to protect genetic privacy in personalized medicine. Urologic oncology, 32(2), 198.
Walton, E., Relton, C. L., & Caramaschi, D. (2019). Using openly accessible resources to strengthen causal inference in epigenetic epidemiology of neurodevelopment and mental health. Genes, 10(3), 193.
Wang, B., et al. (2014). Clinical evidence supporting pharmacogenomic biomarker testing provided in US Food and Drug Administration drug labels. JAMA Internal Medicine, 174(12), 1938–1944.https://doi.org/10.1001/jamainternmed.2014.5266
Wolf, S. M., Annas, G. J., & Elias, S. (2013). Patient autonomy and incidental findings in clinical genomics. Science, 340(6136), 1049-1050.
Wu, D., Dou, J., Chai, X., Bellis, C., Wilm, A., Shih, C. C., ... & Wang, C. (2019). Large-scale whole-genome sequencing of three diverse Asian populations in Singapore. Cell, 179(3), 736-749.
Wynn, R. M., Adams, K. T., Kowalski, R. L., Shivega, W. G., Ratwani, R. M., & Miller, K. E. (2018). The patient in precision medicine: a systematic review examining evaluations of patient-facing materials. Journal of healthcare engineering, 2018.
Zhang, Y., Elgizouli, M., Schöttker, B., Holleczek, B., Nieters, A., & Brenner, H. (2016). Smoking-associated DNA methylation markers predict lung cancer incidence. Clinical epigenetics, 8(1), 1-12.