The sequencing of the human genome and decreasing costs of sequencing technology have led to the notion of ‘personalized medicine’. This has been taken by some authors to indicate that personalized medicine will provide individualized treatments solely based on one’s DNA sequence. We argue this is overly optimistic and misconstrues the notion of personalization. Such interpretations fail to account for economic, policy and structural constraints on the delivery of healthcare. Furthermore, notions of individualization based on genomic data potentially take us down the road of genetic reductionism obscuring the role of environmental factors in disease and ill health. We propose that one should see personalized medicine as a way of using personal genomic information to stratify individuals into subpopulations and suggest that personalized medicine be seen within a broader idea of personalized healthcare, reflecting healthcare that integrates personal genomic data into cultural, environmental and personal contexts.
BurtonHColeTLucassenAM. Genomic medicine: challenges and opportunities for physicians. Clin Med2012; 12: 416–419.
2.
BergJSKhouryMJEvansJP. Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genet Med2011; 13: 499–504.
FragaMFBallestarEPazMF. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci USA2005; 102: 10604–10609.
8.
MillJDempsterECaspiA. Evidence for monozygotic twin (MZ) discordance in methylation level at two CpG sites in the promoter region of the catechol-O-methyltransferase (COMT) gene. Am J Med Genet Part B2006; 141B: 421–425.
9.
KaminskyZATangTWangSC. DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet2009; 41: 240–245.
10.
Chadwick R. Ethical issues in personalized medicine. Drug Discov Today Therap Strat 2013; in press, DOI: 10.1016/j.ddstr.2013.05.001.
11.
12.
GinsburgGSVooraD. The long and winding road to warfarin pharmacogenetic testing. J Am Coll Cardiol2010; 55: 2813–2815.
13.
GinsburgGSWillardHF. Genomic and personalized medicine: foundations and applications. Transl Res2009; 154: 277–287.
14.
DanceyJEBedardPLOnettoN. The genetic basis for cancer treatment decisions. Cell2012; 148: 409–420.
15.
HedgecoeA. ‘At the point at which you can do something about it, then it becomes more relevant’: informed consent in the pharmacogenetic clinic. Soc Sci Med2005; 61: 1201–1210.
16.
KhouryMJGwinnMYoonPW. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?Genet Med2007; 9: 665–674.
17.
TrusheimMRBerndtERDouglasFL. Stratified medicine: strategic and economic implications of combining drugs and clinical biomarkers. Nat Rev Drug Discov2007; 6: 287–293.
18.
JuurlinkDNGomesTGuttmannA. Postpartum maternal codeine therapy and the risk of adverse neonatal outcomes: a retrospective cohort study. Clin Toxicol (Phila)2012; 50: 390–395.
19.
KorenGCairnsJChitayatD. Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet2006; 368: 704–704.
20.
MadadiPMorettiMDjokanovicN. Guidelines for maternal codeine use during breastfeeding. Can Fam Physician2009; 55: 1077–1078.
21.
HagaSBKhouryMJBurkeW. Genomic profiling to promote a healthy lifestyle: not ready for prime time. Nat Genet2003; 34: 347–350.
22.
Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013; 15(7): 565–574.
23.
FeeroWG. Clinical application of whole-genome sequencing. Proceed with care. JAMA2014; 311: 1017–1019.
24.
DeweyFEGroveMEPanC. Clinical interpretation and implications of whole-genome sequencing. JAMA2014; 311: 1035–1035.
25.
HagaSB. Ethical issues of predictive genetic testing for diabetes. J Diabetes Sci Technol2009; 3: 781–788.
26.
LiC. Personalized medicine – the promised land: are we there yet?Clin Genet2011; 79: 403–412.
27.
BellCJDinwiddieDLMillerNA. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med2011; 3: 65ra64–65ra64.
28.
Cutting GR and Sosnay PR. CFTR2 — A research and clinical practice tool. In: Plenary session given at the 25th Annual North American Cystic Fibrosis Conference, Anaheim, California, 3–5 November 2011. http://www.cff.org/research/NACFC/index.cfm?dspPrintReady=Y (accessed 25 November 2011).
29.
30.
MardisER. The $1,000 genome, the $100,000 analysis?Genome Med2010; 2: 84–84.
31.
GoldbergerJJBuxtonAE. Personalized medicine vs guideline-based medicine. JAMA2013; 309: 2559–2560.
32.
PrasadVIoannidisJPA. Evidence-based de-implementation for contradicted, unproven, and aspiring healthcare practices. Implement Sci2013; 9: 1–1.
33.
SchmeddersMvan AkenJFeuersteinG. Individualized pharmacogenetic therapy: a critical analysis. Community Genet2003; 6: 114–119.
34.
SankarPKahnJ. BiDil: race medicine or race marketing?Health Aff (Millwood)2005; Jul–Dec: 455–463.
35.
WoodcockJ. The prospects for “personalized medicine” in drug development and drug therapy. Clin Pharmacol Ther2007; 81: 164–169.
36.
HonigPLalondeR. The economics of drug development: a grim reality and a role for clinical pharmacology. Clin Pharmacol Ther2010; 87: 247–251.
37.
CohenDRafteryJ. Paying twice: questions over high cost of cystic fibrosis drug developed with charitable funding. BMJ2014; 348: g1445–g1445.
38.
O’SullivanBPOrensteinDMMillaCE. The price of drugs for chronic myeloid leukemia (CML) is a reflection of the unsustainable prices of cancer drugs: from the perspective of a large group of CML experts. Blood2013; 121: 4439–4442.
39.
North of England Specialised Commissioning Group. Clinical Commissioning Policy: Ivacaftor for Cystic Fibrosis, Yorkshire and Humber: NHS Commissioning Board, 2013. NHSCB/A01/P/b.
40.
CaulfieldTEvansJMcGuireA. Reflections on the cost of “low-cost” whole genome sequencing: framing the health policy debate. PLoS Biol2013; 11: e1001699–e1001699.
RoseN. Personalized medicine: Promises, problems and perils of a new paradigm for healthcare. Procedia Soc Behav Sci2013; 77: 341–352.
43.
KarapetisCSKhambata-FordSJonkerDJ. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med2008; 359: 1757–1765.
44.
National Institute for Health and Clinical Excellence. Final Appraisal Determination. Cetuximab (Monotherapy or Combination Chemotherapy), Bevacizumab (in Combination with Non-oxaliplatin Chemotherapy) and Panitumumab (Monotherapy) for the Treatment of Metastatic Colorectal Cancer after First-Line Chemotherapy (Review of Technology Appraisal 150 and Part Review of Technology Appraisal Guidance 118), London, UK: National Institute for Health and Clinical Excellence, 2011.
SankarP. Genetic privacy. Annu Rev Med2003; 54: 393–407.
47.
PetersenA. The genetic conception of health: is it as radical as claimed?Health (London)2006; 10: 481–500.
48.
President’s Council of Advisors on Science and Technology. Priorities for Personalized Medicine. Publisher is: President's Council of Advisors on Science and Technology. Washington, DC, 2008.
49.
OffitK. Personalized medicine: new genomics, old lessons. Hum Genet2011; 130: 3–14.
50.
BurkeWPsatyBM. Personalized medicine in the era of genomics. JAMA2007; 298: 1682–1684.
51.
FeeroWGBigleyMBBrinnerKM. New standards and enhanced utility for family health history information in the electronic health record: an update from the American Health Information Community’s Family Health History Multi-Stakeholder Workgroup. J Am Med Inform Assoc2008; 15: 723–728.
52.
FlockhartDAO’KaneDWilliamsMS. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet Med2008; 10: 139–150.
53.
ContiRVeenstraDLArmstrongK. Personalized medicine and genomics: challenges and opportunities in assessing effectiveness, cost-effectiveness, and future research priorities. Med Decis Making2010; 30: 328–340.
54.
FurieB. Do pharmacogenetics have a role in the dosing of vitamin K antagonists?N Engl J Med2013; 369: 2345–2346.
55.
PirmohamedMBurnsideGErikssonN. A randomized trial of genotype-guided dosing of warfarin. N Engl J Med2013; 369: 2294–2303.
56.
BungardTJGhaliWAMcAlisterFA. The relative importance of barriers to the prescription of warfarin for nonvalvular atrial fibrillation. Can J Cardiol2003; 19: 280–284.
57.
IngelgårdAHollowellJReddyP. What are the barriers to warfarin use in atrial fibrillation?: Development of a questionnaire. J Thromb Thrombolysis2006; 21: 257–265.
58.
GattellariMWorthingtonJZwarN. Barriers to the use of anticoagulation for nonvalvular atrial fibrillation: a representative survey of Australian family physicians. Stroke2008; 39: 227–230.
59.
CardosoJBoerJMorreauH. Expression and genomic profiling of colorectal cancer. Biochim Biophys Acta2007; 1775: 103–137.
60.
Canadian Cancer Society. Canadian Cancer Statistics 2011, Toronto, ON: Canadian Cancer Society, 2011.
61.
HawkenSJGreenwoodCMHudsonTJ. The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer. Hum Genet2010; 128: 89–101.
62.
DunlopMGTenesaAFarringtonSM. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals. Gut2012; 62: 871–881.
63.
ZankeBWGreenwoodCMRangrejJ. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet2007; 39: 989–994.
64.
TenesaADunlopMG. New insights into the aetiology of colorectal cancer from genome-wide association studies. Nat Rev Genet2009; 10: 353–358.
65.
de JongAEHendriksYMKleibeukerJH. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology2006; 130: 665–671.
KhouryMJYangQGwinnM. An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventions. Genet Med2004; 6: 38–47.
68.
SimaniNJTomaszewskiMSchunkertH. The personal genome – the future of personalised medicine?Lancet2010; 375: 1497–1498.
69.
SchleidgenSKlingerCBertramT. What is personalized medicine: sharpening a vague term based on a systematic review. BMC Med Ethics2013; 14: 55–55.
