Personalised care and the genome: Using family history to target genomic investigation may be the way forward

BMJ (Online)

Volumn 344, Issue 7859, 2012, Pages

  Doerr, Megan ^a   Eng, Charis ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BASE PAIRING; BIOTECHNOLOGY; CANCER GENETICS; CANCER RISK; COLON CANCER; DIABETES MELLITUS; DIET THERAPY; EDITORIAL; FAMILY HISTORY; GENE SEQUENCE; GENE TARGETING; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC LINKAGE; GENETIC RISK; GENETIC SCREENING; GENETIC TRAIT; GENOMICS; HERITABILITY; HUMAN; HUMAN GENOME; LIFESTYLE MODIFICATION; MOLECULAR GENETICS; PATIENT CARE; PERSONALISED CARE; PRIORITY JOURNAL; PROPHYLAXIS; PUBLIC HEALTH SERVICE; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; GENETIC PREDISPOSITION; PERSONALIZED MEDICINE;

GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOMICS; HUMANS; INDIVIDUALIZED MEDICINE;

EID: 84861850383     PISSN: 17561833     EISSN: None     Source Type: Journal    
DOI: 10.1136/bmj.e3174     Document Type: Editorial

References (15)

1. Roberts NJ, Vogelstein JT, Parmigiani G, Kinzler KW, Vogelstein B, Velculescu VE. The predictive capacity of personal genome sequencing. Sci Translational Med 2012; published online 25 April.
2. Mayor S. Whole genome sequencing fails to predict risk of most common diseases. BMJ 2012;344:e2535.
3. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010;42:790-3.
4. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009;461:272-6.
5. Hudson TJ, Anderson W, Artez A, Barker AD, Bell C, Bernabe RR, et al. International network of cancer genome projects. Nature 2010;464:993-8.
6. McBride CM, Bryan AD, Bray MS, Swan GE, Green ED. Health behavior change: can genomics improve behavioral adherence? Am J Public Health 2012;102:401-5.
7. Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 2009;106:9362-7.
8. Heald B, Edelman E, Eng C. Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers. Eur J Hum Genet 2012;20:547-51.
9. Sturm AC, Manickam K. Direct-to-consumer personal genomic testing: a case study and practical recommendations for "genomic counseling." J Genet Couns 2012; published online 1 February.
10. Skirton H, Goldsmith L, Jackson L, O'Connor A. Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations. Clin Genet 2012; published online 28 February.
11. Borry P, van Hellemondt RE, Sprumont D, Jales CF, Rial-Sebbag E, Spranger TM, et al. Legislation on direct-to-consumer genetic testing in seven European countries. Eur J Hum Genet 2012; published online 25 January.
12. Janssens AC, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008;82:593-9. (Pubitemid 351726114)
13. Euhus D. Managing the breast in patients who test positive for hereditary breast cancer. Ann Surg Oncol 2012; published online 7 March.
14. Qureshi N, Armstrong S, Dhiman P, Saukko P, Middlemass J, Evans PH, et al. Effect of adding systematic family history enquiry to cardiovascular disease risk assessment in primary care: a matched-pair, cluster randomized trial. Ann Intern Med 2012;156:253-62.
15. Lynch HT, Boland CR, Rodriguez-Bigas MA, Amos C, Lynch JF, Lynch PM. Who should be sent for genetic testing in hereditary colorectal cancer syndromes? J Clin Oncol 2007;25:3534-42. (Pubitemid 47310892)