- Genetic testing
- Health behaviours
- Clinical utility
- Public health genomics
Human genetics research is increasingly concerned with multifactorial conditions such as diabetes and heart disease, which are influenced not only by genetic but also lifestyle factors such as diet and smoking. Although the results of ‘lifestyle-genetic’ tests using this information could conceivably motivate lifestyle changes in the future, companies are already selling such tests and related lifestyle advice commercially. Some academics and lobby groups have condemned the companies for selling these tests in advance of scientific support. Others are concerned that the tests may not motivate lifestyle improvements, instead causing distress in people receiving adverse test results and complacency in those receiving reassuring results. There is currently no regulatory oversight of genetic test utility, despite consensus in the Public Health Genomics community that clinical utility (including psychological and behavioural impact) of all emerging genetic tests should be evaluated before being introduced for individual use. Clearly, empirical data in this area is much needed, to inform understanding of the potential utility of these tests, and of whether stricter regulation of commercial exploitation is needed. In this article, we review the current situation regarding lifestyle-genetic tests, and discuss the challenges inherent in conducting this kind of behavioural research in the genomics era.
Copyright © 2008 S. Karger AG, Basel
- The International HapMap Consortium: A haplotype map of the human genome. Nature 2005;437:1299–1320.
- Sachidanandam R, et al: A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001;409:928–933.
- Collins FS, Morgan M, Patrinos A: The Human Genome Project: lessons from large-scale biology. Science 2003;300:286–290.
- Cordell HJ, Clayton DG: Genetic association studies. Lancet 2005;366:1121–1131.
- Davey SG, et al: Genetic epidemiology and public health: hope, hype, and future prospects: Lancet 2005;366:1484–1498.
- Collins FS, Green ED, Guttmacher AE, Guyer MS: A vision for the future of genomics research. Nature 2003;422:835–847.
- Khoury MJ, Davis R, Gwinn M, Lindegren ML, Yoon P: Do we need genomic research for the prevention of common diseases with environmental causes? Am J Epidemiol 2005;161:799–805.
- Marteau TM, Weinman J: Self-regulation and the behavioural response to DNA risk information: a theoretical analysis and framework for future research. Soc Sci Med 2006;62:1360–1368.
- Collins FS: The human genome project and the future of medicine. Ann NY Acad Sci 1999;882:42–55.
- Collins FS: Shattuck Lecture – medical and societal consequences of the Human Genome Project. N Engl J Med 1999;341:28–37.
- Gerich JE: The genetic basis of type 2 diabetes mellitus: impaired insulin secretion versus impaired insulin sensitivity. Endocrinol Rev 1998;19:491–503.
- Hitman GA, Sudagani J: Searching for genes in diabetes and the metabolic syndrome. Int J Clin Pract Suppl 2004;143:3–8.
- Lyssenko V, et al: Predictors of and longitudinal changes in insulin sensitivity and secretion preceding onset of type 2 diabetes. Diabetes 2005;54:166–174.
- Grant SF, et al: Variant of transcription factor 7-like 2 TCF7L2 gene confers risk of type 2 diabetes. Nat Genet 2006;38:320–323.
- Wade N: Gene Increases Diabetes Risk, Scientists Find. New York, New York Times, 2006.
- Janssens AC, Gwinn M, Valdez R, Narayan KM, Khoury MJ: Predictive genetic testing for type 2 diabetes. BMJ 2006;333:509–510.
- Cooper RS, Psaty BM: Genomics and medicine: distraction, incremental progress, or the dawn of a new age? Ann Intern Med 2003;138:576–580.
- Merikangas KR, Risch N: Genomic priorities and public health. Science 2003;302:599–601.
- Merikangas KR, Risch N: Will the genomics revolution revolutionize psychiatry? Am J Psychiatry 2003;160:625–635.
- Willett WC: Balancing life-style and genomics research for disease prevention. Science 2002;296:695–698.
- Burke W, Khoury MJ, Stewart A, Zimmern RL: The path from genome-based research to population health: development of an international public health genomics network. Genet Med 2006;8:451–458.
- Grosse SD, Khoury MJ: What is the clinical utility of genetic testing? Genet Med 2006;8:448–450.
- Haga SB, Khoury MJ, Burke W: Genomic profiling to promote a healthy lifestyle: not ready for prime time. Nat Genet 2003;34:347–350.
- Khoury MJ, Jones K, Grosse SD: Quantifying the health benefits of genetic tests: the importance of a population perspective. Genet Med 2006;8:191–195.
- Scheuner MT, Rotter JI: Quantifying the health benefits of genetic tests: a clinical perspective. Genet Med 2006;8:141–142.
- Mutch DM, Wahli W, Williamson G: Nutrigenomics and nutrigenetics: the emerging faces of nutrition. FASEB J 2005;19:1602–1616.
- Ordovas JM: Nutrigenetics, plasma lipids, and cardiovascular risk. J Am Diet Assoc 2006;106:1074–1081.
- Roberts G, Grimaldi K: Sciona and genetic testing. Nat Genet 2003;33:121.
- Vineis P, Christiani DC: Genetic testing for sale. Epidemiology 2004;15:3–5.
- Mykitiuk R: Caveat emptor: direct-to-consumer supply and advertising of genetic testing. Clin Invest Med 2004;27:23–32.
- Marteau TM, Lerman C: Genetic risk and behavioural change. BMJ 2001;322:1056–1059.
- Holtzman NA: Are genetic tests adequately regulated? Science 1999;286:409.
- Holtzman NA: Promoting safe and effective genetic tests in the United States: work of the task force on genetic testing. Clin Chem 1999;45:732–738.
- Khoury MJ, et al: Challenges in communicating genetics: a public health approach. Genet Med 2000;2:198–202.
- Burke W, Pinsky LE, Press NA: Categorizing genetic tests to identify their ethical, legal, and social implications. Am J Med Genet 2001;106:233–240.
- Harvey-Berino J, et al: Does genetic testing for obesity influence confidence in the ability to lose weight? A pilot investigation. J Am Diet Assoc 2001;101:1351–1353.
- Frosch DL, Mello P, Lerman C: Behavioral consequences of testing for obesity risk. Cancer Epidemiol Biomarkers Prev 2005;14:1485–1489.
- Audrain J, et al: Genetic susceptibility testing in smoking-cessation treatment: one-year outcomes of a randomized trial. Addict Behav 1997;22, 741–751.
- Lerman C, et al: Incorporating biomarkers of exposure and genetic susceptibility into smoking cessation treatment: effects on smoking-related cognitions, emotions, and behavior change. Health Psychol 1997;16:87–99.
- Sanderson SC, Humphries SE, Hubbart C, Hughes E, Jarvis MJ, Wardle J: Psychological and behavioural impact of genetic testing smokers for lung cancer risk: a phase II exploratory trial. J Health Psychol 2008;13:481–494.
- McBride CM, et al: Incorporating genetic susceptibility feedback into a smoking cessation program for African-American smokers with low income. Cancer Epidemiol Biomarkers Prev 2002;11:521–528.
- Sanderson SC, Michie S: Genetic testing for heart disease susceptibility: potential impact on intention to quit smoking. Clin Genet 2007;71:501–510.
- Wang C, Bowen DJ, Kardia SL: Research and practice opportunities at the intersection of health education, health behavior, and genomics. Health Educ Behav 2005;32:686–701.
- Campbell M, et al: Framework for design and evaluation of complex interventions to improve health. BMJ 2000;321:694–696.
- Gollust SE, Hull SC, Wilfond BS: Limitations of direct-to-consumer advertising for clinical genetic testing. JAMA 2002;288;1762–1767.
- McBride CM, et al: Maximizing the motivational impact of feedback of lung cancer susceptibility on smokers’ desire to quit. J Health Commun 2000;5:229–241.
- Lipkus IM, McBride CM, Pollak KI, et al: Interpretation of genetic risk feedback among African-American smokers with low socioeconomic status. Health Psychol 2004;23:178–188.
- Gooding HC, Organista K, Burack J, Biesecker BB: Genetic susceptibility testing from a stress and coping perspective. Soc Sci Med 2006;62:1880–1890.
- Bates BR, Templeton A, Achter PJ, et al: What does ‘a gene for heart disease’ mean? A focus group study of public understandings of genetic risk factors. Am J Med Genet A 2003;119:156–161.
- Senior V, Marteau TM, Peters TJ: Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia. Soc Sci Med 1999;48:1857–1860.
- McBride CM, Lipkus IM, Jolly D, Lyna P: Interest in testing for genetic susceptibility to lung cancer among Black college students ‘at risk’ of becoming cigarette smokers. Cancer Epidemiol Biomarkers Prev 2005;14:2978–2981.
- Sanderson SC, Wardle J, Jarvis MJ, Humphries SE: Public interest in genetic testing for susceptibility to heart disease and cancer: a population-based survey in the UK. Prev Med 2004;39:458–464.
- Sanderson S, et al: How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genet Med 2005;7:495–500.
- Bowen DJ, Battuello KM, Raats M: Marketing genetic tests: empowerment or snake oil? Health Educ Behav 2005;32:676–685.
- Zimmern R, Emery J, Richards T: Putting genetics in perspective requires better understanding and more rational debate. BMJ 2001;322:1005–1006.
- Morris J, Gwinn M, Clyne M, Khoury MJ: Public knowledge regarding the role of genetic susceptibility to environmentally induced health conditions. Community Genet 2003;6:22–28.
Prof. Steve Humphries
Centre for Cardiovascular Disease, Rayne Building
5 University Street
London WC1E 6JJ (UK)
Tel. +44 207 679 6962, Fax +44 207 679 212, E-Mail firstname.lastname@example.org
Received: March 3, 2008
Accepted: March 4, 2008
Published online: August 6, 2008
Number of Print Pages : 8
Number of Figures : 0, Number of Tables : 0, Number of References : 56
Journal of Nutrigenetics and Nutrigenomics
Vol. 1, No. 5, Year 2008 (Cover Date: August 2008)
Journal Editor: Pérusse L. (Quebec, Que.), Vohl M.-C. (Quebec, Que.)
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