Are Health Professionals Ready for Direct-to-consumer Genetic and Genomic Testing?

• Garraway LA . Genomics-driven oncology: framework for an emerging paradigm. J. Clin. Oncol.319(15) , 1806–1814 (2013).
   Google Scholar
• Travers ME , McCarthyMI. Type 2 diabetes and obesity: genomics and the clinic.Hum. Genet.130(1) , 41–58 (2011).
   PubMed Web of Science ®Google Scholar
• Ware JS , RobertsAM, CookSA. Next-generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.Heart98(4) , 276–281 (2012).
   PubMed Web of Science ®Google Scholar
• Whitcomb DC . What is personalized medicine and what should it replace?Nat. Rev. Gastroenterol.9(7) , 418–424 (2012).
   PubMed Web of Science ®Google Scholar
• Skirton H , GoldsmithL, JacksonL, TibbenA. Quality in genetic counseling for presymptomatic testing – clinical guidelines for practice across the range of genetic conditions.Eur. J. Hum. Genet.21(3) , 256–260 (2013).
   PubMed Web of Science ®Google Scholar
• Damani SB , TopolEJ. Emerging genomic applications in coronary artery disease.JACC4(5) , 473–482 (2011).
   Google Scholar
• McKillop AM , FlattPR. Emerging applications of metabolomic and genomic profiling in diabetic clinical medicine.Diabetes Care34(12) , 2624–2630 (2011).
   PubMed Web of Science ®Google Scholar
• Lea DH , SkirtonH, ReadCY, WilliamsJK. Implications for educating the next generation of nurses on genetics and genomics in the 21st century.J. Nurs. Scholarch.43(1) , 3–12 (2011).
   PubMed Web of Science ®Google Scholar
• Skirton H , GoldsmithG, JacksonL, O‘ConnorA, LewisC, ChittyLC. Offering prenatal diagnostic tests – European guidelines for clinical practice.Eur. J. Hum. Genet. (2013) (In Press).
   Web of Science ®Google Scholar
• Scully JL , PorzR, Rehmann-SutterC. You don‘t make genetic test decisions from one day to the next‘ – using time to preserve moral space.Bioethics21(4) , 208–217 (2007).
   PubMed Web of Science ®Google Scholar
• Fulda KG , LykensK. Ethical issues in predictive genetic testing: a public health perspective.J. Med. Ethics32(3) , 143–147 (2006).
   PubMed Web of Science ®Google Scholar
• Martin DK , GreenwoodHL, NiskerJ. Public perceptions of ethical issues regarding adult predictive genetic testing.Health Care Anal.18(2) , 103–112 (2010).
   PubMed Web of Science ®Google Scholar
• Beauchamp TL , ChildressJF. Principles of Biomedical Ethics. Oxford University Press, Oxford, UK(2009).
   Google Scholar
• Houwink EJ , van Luijk SJ, Henneman L, van der Vleuten C, Jan Dinant G, Cornel MC. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives.BMC Fam. Pract.12 , 5–5 (2011).
   PubMed Web of Science ®Google Scholar
• Guttmacher AE , PorteousME, McInerneyJD. Educating health-care professionals about genetics and genomics.Nat. Rev. Genet.8(2) , 151–157 (2007).
   PubMed Web of Science ®Google Scholar
• Robson ME , StormCD, WeitzelJ, WollinsDS, OffitK. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.J. Clin. Oncol.28(5) , 893–901 (2010).
   PubMed Web of Science ®Google Scholar
• McGowan M , FishmanJ, LambrixM. Personal genomics and individual identities: motivations and moral imperatives of early users.New Genet. Soc.29 , 261–290 (2010).
   PubMed Web of Science ®Google Scholar
• Hay J , KaphingstKA, BaserR, LiY, Hensley-AlfordS, McBrideCM. Skin cancer concerns and genetic risk information-seeking in primary care. Public Health Genomics15(2) , 57–72 (2012).
   PubMed Web of Science ®Google Scholar
• Claassen L , HennemanL, de Vet R, Knol D, Marteau T, Timmermans D. Fatalistic responses to different types of genetic risk information: exploring the role of self-malleability. Psychol. Health25(2) , 183–196 (2010).
   PubMed Web of Science ®Google Scholar
• Meisel SF , WalkerC, WardleJ. Psychological responses to genetic testing for weight gain: a vignette study. Obesity (Silver Spring)20(3) , 540–546 (2012).
   PubMed Web of Science ®Google Scholar
• Williams-Jones B . Where there‘s a web, there‘s a way: commercial genetic testing and the Internet. Community Genet.6(1) , 46–57 (2003).
   PubMedGoogle Scholar
• Francke U , DijamcoC, KieferAK et al. Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing. PeerJ 1 , e8 (2013).
   PubMed Web of Science ®Google Scholar
• Gronwald J , HuzarskiT, ByrskiT et al. Direct-to-patient BRCA1 testing: the Twoj Styl experience. Breast Cancer Res. Treat. 100(3) , 239–245 (2006).
   PubMed Web of Science ®Google Scholar
• Li C . Personalized medicine – the promised land: are we there yet? Clin. Genet.79(5) , 403–412 (2011).
   PubMed Web of Science ®Google Scholar
• Yang Q , FlandersWD, MoonesingheR, IoannidisJPA, GuessousI, KhouryMJ. Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. Am. J. Hum. Genet.85(6) , 786–800 (2009).
   PubMed Web of Science ®Google Scholar
• Hennen L , SauterA, van Den Cruyce E. Direct to consumer genetic testing: insights from an internet scan. New Genet. Soc.29(2) , 167–186 (2010).
   Web of Science ®Google Scholar
• Harris A , KellyS, WyattS. Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market. J. Genetic Couns.22(2) , 277–288 (2013).
   PubMed Web of Science ®Google Scholar
• Davey JW , HohenlohePA, EtterPD, BooneJQ, CatchenJM, BlaxterML. Genome-wide genetic marker discovery and genotyping using next-generation sequencing. Nat. Rev. Genet.2(7) , 499–510 (2011).
   Google Scholar
• Schuster SC . Next-generation sequencing transforms today‘s biology. Nat. Methods5(1) , 16–18 (2008).
   PubMed Web of Science ®Google Scholar
• Bansal V , TewheyR, LeproustEM, SchorkNJ. Efficient and cost effective population resequencing by pooling and in-solution hybridization. PLoS ONE6(3) , e18353 (2011).
   PubMedGoogle Scholar
• Bonetta L . Getting up close and personal with your genome. Cell133(5) , 753–756 (2008).
   PubMed Web of Science ®Google Scholar
• Goldsmith L , JacksonL, O‘ConnorA, SkirtonH. Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. Eur. J. Hum. Genet.20(8) , 811–816 (2012).
   PubMed Web of Science ®Google Scholar
• Bollinger JM , GreenRC, KaufmanD. Attitudes about regulation among direct-to-consumer genetic testing customers. Genet. Test Mol. Biomarkers17(5) , 424–428 (2013).
   PubMed Web of Science ®Google Scholar
• Baldor R . Ethical considerations in disease management: a managed care perspective. Disease Manag. Health Out.11(2) , 71–75 (2003).
   Google Scholar
• Gollust SE , GordonES, ZayacC et al. Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants. Public Health Genomics 15(1) , 22–30 (2012).
   PubMed Web of Science ®Google Scholar
• Cherkas LF , HarrisJM, LevinsonE, SpectorTD, PrainsackB. A survey of UK public interest in internet-based personal genome testing. PLoS ONE5(10) , e13473 (2010).
   PubMed Web of Science ®Google Scholar
• Su Y , HowardH, BorryP. Users‘ motivations to purchase direct-to-consumer genome-wide testing: an exploratory study of personal stories. J. Comm. Genet.2 , 135–146 (2011).
   PubMedGoogle Scholar
• Borry P , van Hellemondt RE, Sprumont D et al. Legislation on direct-to-consumer genetic testing in seven European countries. Eur. J. Hum. Genet.20(7) , 715–721 (2012).
   PubMed Web of Science ®Google Scholar
• Armstrong K , PuttM, HalbertCH et al. The influence of health care policies and health care system distrust on willingness to undergo genetic testing. Med. Care 50(5) , 381–387 (2012).
   PubMed Web of Science ®Google Scholar
• Skirton H , PatchC. Factors affecting the clinical use of noninvasive prenatal testing: a mixed methods systematic review. Prenat. Diag.33(6) , 532–541 (2013).
   PubMed Web of Science ®Google Scholar
• Chitty LS , BianchiDW. Noninvasive prenatal testing: the paradigm is shifting. Prenat. Diag.33(6) , 511–513 (2013).
   PubMed Web of Science ®Google Scholar
• Skirton H , GoldsmithL, JacksonL, O‘ConnorA. Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations. Clin. Genet.82(3) , 210–218 (2012).
   PubMed Web of Science ®Google Scholar
• Foster MW , SharpRR. Out of sequence: how consumer genomics could displace clinical genetics. Nat. Rev. Genetics9(6) , 419–419 (2008).
   PubMed Web of Science ®Google Scholar
• Weaver M , PollinT. Direct-to-consumer genetic testing: what are we talking about? J. Genet. Couns.21(3) , 361–366 (2012).
   PubMed Web of Science ®Google Scholar
• Veach P , LeroyB. Defining moments in genetic counselor professional development: one decade later. J. Genet. Couns.21(2) , 162–166 (2012).
   PubMed Web of Science ®Google Scholar
• Lea DH , WilliamsJK, CookseyJA, FlanaganPA, ForteG, BlitzerMG. US genetics nurses in advanced practice. J. Nurs. Scholarch.38(3) , 213–218 (2006).
   PubMed Web of Science ®Google Scholar
• Skirton H , Kerzin-StorrarL, BarnesC et al. Building the genetic counsellor profession in the United Kingdom: two decades of growth and development. J. Genet. Couns. doi:10.1007/s10897-012-9560-4 (2013) (Epub ahead of print).
   Web of Science ®Google Scholar
• Skirton H , ArimoriN, AokiM. A historical comparison of the development of specialist genetic nursing in the United Kingdom and Japan. Nurs. Health Sci.8(4) , 231–236 (2006).
   PubMedGoogle Scholar
• Cordier C , LambertD, Voelckel M-A, Hosterey-Ugander U, Skirton H. A profile of the genetic counsellor and genetic nurse profession in European countries. J. Comm. Genet.3(1) , 19–24 (2012).
   PubMedGoogle Scholar
• Houwink EJF , HennemanL, WesternengM et al. Prioritization of future genetics education for general practitioners: a Delphi study. Genet. Med. 14(3) , 323–329 (2012).
   PubMed Web of Science ®Google Scholar
• Houwink EJ , van Luijk SJ, Henneman L, van der Vleuten C, Jan Dinant G, Cornel MC. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC Family Practice12 , 5 (2011).
   PubMedGoogle Scholar
• Ram S , RussellB, GubbM et al. General practitioner attitudes to direct-to-consumer genetic testing in New Zealand. N. Z. Med. J. 125(1364) , 14–26 (2012).
   PubMedGoogle Scholar
• Goldsmith L , JacksonL, O‘ConnorA, SkirtonH. Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature. J. Comm. Genet.4(2) , 169–180 (2013).
   PubMedGoogle Scholar
• Hock KT , ChristensenKD, YasharBM, RobertsJS, GollustSE, UhlmannWR. Direct-to-consumer genetic testing: an assessment of genetic counselors‘ knowledge and beliefs. Genet. Med.13(4) , 325–332 (2011).
   PubMed Web of Science ®Google Scholar
• Skirton H , LewisC, KentA, CovielloDA. Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe. Eur. J. Hum. Genet.18(9) , 972–977 (2010).
   PubMed Web of Science ®Google Scholar
• Baars MJ , HennemanL, Ten Kate LP. Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genet. Med.7(9) , 605–610 (2005).
   PubMed Web of Science ®Google Scholar
• Baars MJ , ScherpbierAJA, SchuwirthLW et al. Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genet. Med. 7(5) , 295–301 (2005).
   PubMed Web of Science ®Google Scholar
• Bonter K , DesjardinsC, CurrierN, PunJ, AshburyFD. Personalised medicine in Canada: a survey of adoption and practice in oncology, cardiology and family medicine. BMJ Open1(1) , e000110 (2011).
   PubMed Web of Science ®Google Scholar
• Stanek EJ , SandersCL, TaberKA et al. Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clin. Pharmacol. Ther. 91(3) , 450–458 (2012).
   PubMed Web of Science ®Google Scholar
• Powell KP , ChristiansonCA, CogswellWA et al. Educational needs of primary care physicians regarding direct-to-consumer genetic testing. J. Genet. Couns. 21(3) , 469–478 (2012).
   PubMed Web of Science ®Google Scholar
• Goldsmith L , JacksonL, O‘ConnorA, SkirtonH. Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature. J. Comm. Genet.4(2) , 169–180 (2013).
   PubMedGoogle Scholar
• Skirton H , JacksonL, GoldsmithL, O‘ConnorA. Gudiance for patients considering direct-to-comsumer gentic testing and health profesionals involved in their care; development of a practical decision tool. Fam. Prac. (2013) (In Press).
   Google Scholar
• Godino L , SkirtonH. A systematic review of nurses‘ knowledge of genetics. J. Nurs. Educ. Prac.2(3) , doi:10.5430/jnep.v2n3p173 (2012).
   Google Scholar
• Godino L , TurchettiD, SkirtonH. Knowledge of genetics and the role of the nurse in genetic health care: a survey of Italian nurses. J. Adv. Nurs.69(5) , 1125–1135 (2013).
   PubMed Web of Science ®Google Scholar
• Skirton H , MurakamiK, TsujinoK, KutsunugiS, TuraleS. Genetic competence of midwives in the UK and Japan. Nurs. Health Sci.12(3) , 292–303 (2010).
   PubMed Web of Science ®Google Scholar
• Williams JK , ProwsCA, ConleyYP, EggertJ, KirkM, NicholsF. Strategies to prepare faculty to integrate genomics into nursing education programs. J. Nurs. Scholarch.43(3) , 231–238 (2011).
   PubMed Web of Science ®Google Scholar

▪ Websites

• 23andMe. www.23andme.com
   Google Scholar
• Kanellos M. Moore‘s Law to roll on for another decade (2003). http://news.cnet.com/2100-1001-984051.html
   Google Scholar
• Illumina. www.illumina.com
   Google Scholar
• Life Technologies. www.invitrogen.com
   Google Scholar
• Molecular genetics. The Leeds Teaching Hospitals. www.leedsth.nhs.uk
   Google Scholar
• DNA DTC. Next-generation sequencing services. www.dnadtc.com
   Google Scholar
• Genomics law report. DNA DTC: the return of direct-to-consumer whole-genome sequencing (2012). www.genomicslawreport.com/index.php/2012/11/29/dna-dtc-the-return-of-direct-to-consumer-whole-genome-sequencing
   Google Scholar
• Cesagen: ESRC Centre for Economic and Social Aspects of Genetics: report on the direct-to-consumer genetic testing industry (2010). www.genomicsnetwork.ac.uk/media/T1%20-%20Personal%20Genomics%20Link%20PDF.pdf
   Google Scholar
• Nimble Diagnostics. www.nimblediagnostics.co.uk/home/gen.html
   Google Scholar
• American College of Medical Genetics and Genomics: ACMG recommendations for reporting of incidental findings in clinical exome and genome (2013). www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf
   Google Scholar
• Heger M. Debate heats up on ACMG‘s incidental findings recommendations (2013). www.genomeweb.com/clinical-genomics/debate-heats-acmgs-incidental-findings-recommendations
   Google Scholar