REFERENCES

• FeeroW.GuttmacherA.CollinsF.Genomic medicine — an updated primer.N Engl J Med.2010362212001201120505179
   PubMed Web of Science ®Google Scholar
• GuttmacherAE.McGuireAL.PonderB.StefanssonK.Personalized genomic information: preparing for the future of genetic medicine.Nat Rev Genet.201011216116520065954
   PubMed Web of Science ®Google Scholar
• CollinsFS.VarmusH.A new initiative on precision medicine.N Engl J Med.2015372979379525635347
   PubMed Web of Science ®Google Scholar
• SchweigerMR.BarmeyerC.TimmermannB.Genomics and epigenomics: new promises of personalized medicine for cancer patients.Brief Funct Genomics.201312541142123814132
   PubMed Web of Science ®Google Scholar
• PantS.WeinerR.MartonMJ.Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics.Front Oncol.201447824860780
   PubMedGoogle Scholar
• GaganJ.Van AllenEM.Next-generation sequencing to guide cancer therapy.Genome Med.2015718026221189
   PubMed Web of Science ®Google Scholar
• HuiL.BianchiDW.Recent advances in the prenatal interrogation of the human fetal genome.Trends Genet.2013292849123158400
   PubMed Web of Science ®Google Scholar
• Van VugtS.BroekhuizenL.ZuithoffN.et alIncidental chest radiographic findings in adult patients with acute cough.Ann Fam Med.201210651051523149527
   PubMed Web of Science ®Google Scholar
• VassyJL.LautenbachDM.McLaughlinHM.et alThe MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.Trials.2014158524645908
   PubMed Web of Science ®Google Scholar
• GilissenC.HoischenA.BrunnerHG.VeltmanJA.Unlocking mendelian disease using exome sequencing.Genome Biol.201112922821920049
   PubMed Web of Science ®Google Scholar
• Gonzaga-JaureguiC.LupskiJR.GibbsRA.Human genome sequencing in health and disease.Annu Rev Med.201263356122248320
   PubMed Web of Science ®Google Scholar
• Deciphering Development Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders.Nature.2015519754222322825533962
   PubMed Web of Science ®Google Scholar
• WortheyEA.MayerAN.SyversonGD.et alMaking a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.Genet Med.201113325526221173700
   PubMed Web of Science ®Google Scholar
• PoseyJE.RosenfeldJA.JamesRA.et alMolecular diagnostic experience of whole-exome sequencing in adult patients.Genet Med.201618767868526633545
   PubMed Web of Science ®Google Scholar
• ACMG Board of Directors Points to consider for informed consent for genome/exome sequencing.Genet Med.201315974874923970068
   PubMedGoogle Scholar
• LeeH.DeignanJL.DorraniN.et alClinical exome sequencing for genetic identification of rare mendelian disorders.JAMA.2014312181880188725326637
   PubMed Web of Science ®Google Scholar
• YangY.MuznyDM.ReidJG.et alClinical whole-exome sequencing for the diagnosis of mendelian disorders.N Engl J Med.2013369161502151124088041
   PubMed Web of Science ®Google Scholar
• YangY.MuznyDM.XiaF.et alMolecular findings among patients referred for clinical whole-exome sequencing.JAMA.2014312181870187925326635
   PubMed Web of Science ®Google Scholar
• BamshadMJ.ShendureJA.ValleD.et alThe Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare mendelian conditions.Am J Med Genet A.2012158A71523152522628075
   PubMed Web of Science ®Google Scholar
• GahlWA.MulvihillJJ.ToroC.et alThe NIH Undiagnosed Diseases Program and Network: applications to modern medicine.Mol Genet Metab.2016117439340026846157
   PubMed Web of Science ®Google Scholar
• GahlWA.WiseAL.AshleyEA.The Undiagnosed Diseases Network of the National Institutes of Health: a national extension.JAMA.2015314171797179826375289
   PubMed Web of Science ®Google Scholar
• GreenRC.GoddardKA.JarvikGP.et alClinical Sequencing Exploratory Research Consortium: accelerating evidence-based practice of genomic medicine.Am J Hum Genet.20169861051106627181682
   PubMed Web of Science ®Google Scholar
• NazarethSB.LazarinGA.GoldbergJD.Changing trends in carrier screening for genetic disease in the United States.Prenat Diagn.2015351093193526138560
   PubMed Web of Science ®Google Scholar
• UmbargerMA.KennedyCJ.SaundersP.et alNext-generation carrier screening.Genet Med.201416213214023765052
   PubMed Web of Science ®Google Scholar
• BloutCL.RehmHL.McGuireAL.et alThe MedSeq Project: exploring the integration of whole genome sequencing into the practice of medicine. Paper presented at: Festival of Genomics; June 22-24, 2015 Boston, MA.
   Google Scholar
• BrezinaPR.KuttehWH.Clinical applications of preimplantation genetic testing.BMJ.2015350g761125697663
   PubMed Web of Science ®Google Scholar
• ZierhutH.McCarthyVeachP.LeRoyb.Canaries inthecoal mine: personal and professional impact of undergoing whole genome sequencing on medical professionals.Am J Med Genet A.2015167A112647265626219924
   PubMedGoogle Scholar
• LewisKL.HookerGW.ConnorsPD.et alParticipant use and communication of findings from exome sequencing: a mixed-methods study.Genet Med.201618657758326540156
   PubMed Web of Science ®Google Scholar
• LindermanMD.NielsenDE.GreenRC.Personal genome sequencing in ostensibly healthy individuals and the PeopleSeq Consortium.J Pers Med. 2016;6(2). doi:10.3390/jpm6020014.
   Google Scholar
• MaherB.Personal genomes: the case of the missing heritability.Nature.20084567218182118987709
   PubMed Web of Science ®Google Scholar
• KrierJ.BarfieldR.GreenR.KraftP.Reclassification of genetic-based predictions as GWAS data accumulate.Genome Med.2016812026884246
   PubMedGoogle Scholar
• ChaoS.RobertsJS.MarteauTM.SillimanRA.GreenRC.Health behavior changes after genetic risk assessment for Alzheimer disease: the REVEAL Study.Alzheimer Dis Assoc Disord.2008221949718317253
   PubMed Web of Science ®Google Scholar
• KulloIJ.JouniH.AustinEE.et alIncorporating a genetic risk score into coronary heart disease risk estimates: effect on low-density lipoprotein cholesterol levels (the MI-GENES Clinical Trial).Circulation.2016133121181118826915630
   PubMed Web of Science ®Google Scholar
• LaneWJ.WesthoffCM.UyJM.et alComprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle.Transfusion.201656374375426634332
   PubMed Web of Science ®Google Scholar
• WiitaAP.SchrijverI.Clinical application of high throughput molecular screening techniques for pharmacogenomics.Pharmgenomics Pers Med.2011410912123226057
   PubMedGoogle Scholar
• DuzkaleH.ShenJ.McLaughlinH.et alA systematic approach to assessing the clinical significance of genetic variants.Clin Genet.201384545346324033266
   PubMed Web of Science ®Google Scholar
• McLaughlinHM.Ceyhan-BirsoyO.ChristensenKD.et alA systematic approach to the reporting of medically relevant findings from whole genome sequencing.BMC Med Genet.20141513425714468
   PubMed Web of Science ®Google Scholar
• AmendolaLM.JarvikGP.LeoMC.et alPerformance of ACMGAMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet.20169861067107627181684
   PubMed Web of Science ®Google Scholar
• RehmHL.BergJS.BrooksLD.et alClinGen — the Clinical Genome Resource.N Engl J Med.2015372232235224226014595
   PubMed Web of Science ®Google Scholar
• RichardsS.AzizN.BaleSJ.et alStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med.201517540542325741868
   PubMed Web of Science ®Google Scholar
• GreenRC.RehmHL.KohaneIS.Clinical genome sequencing. In: Ginsburg GS, Willard HF, eds.Genomic and Personalized Medicine. 2nd ed. San Diego, CA: Academic Press;2013102122
   Google Scholar
• GreenRC.BergJS.GrodyWW.et alACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genet Med.201315756557423788249
   PubMed Web of Science ®Google Scholar
• GreenRC.BergJS.BerryGT.et alExploring concordance and discordance for return of incidental findings from clinical sequencing.Genet Med.201214440541022422049
   PubMed Web of Science ®Google Scholar
• GreenRC.LupskiJ.BieseckerLG.Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.JAMA.2013310436536623917280
   PubMed Web of Science ®Google Scholar
• BergJS.AdamsM.NassarN.et alAn informatics approach to analyzing the incidentalome.Genet Med.2013151364422995991
   PubMed Web of Science ®Google Scholar
• ACMG Board of Directors ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.Genet Med.2015171686925356965
   PubMedGoogle Scholar
• ManolioTA.ChisholmRL.OzenbergerB.et alImplementing genomic medicine in the clinic: the future is here.Genet Med.201315425826723306799
   PubMed Web of Science ®Google Scholar
• PowellKP.CogswellWA.ChristiansenCA.et alPrimary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing.J Genet Couns.201221111312621769569
   PubMed Web of Science ®Google Scholar
• HagaSB.CarrigMM.O'DanielJM.et alGenomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling.J Gen Intern Med.201126883484021311998
   PubMed Web of Science ®Google Scholar
• DemmerLA.WaggonerDJ.Professional medical education and genomics.Annu Rev Genomics Hum Genet.20141550751624635717
   PubMed Web of Science ®Google Scholar
• SharpRR.GoldlustME.EngC.Addressing gaps in physician education using personal genomic testing.Genet Med.201113875075121814069
   PubMedGoogle Scholar
• SalariK.KarczewskiKJ.HudginsL.OrmondKE.Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine.PLoS One.201387e6885323935898
   PubMed Web of Science ®Google Scholar
• SandersonSC.LindermanMD.KasarskisA.et alInformed decisionmaking among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study.Genome Med.201351211324373383
   PubMed Web of Science ®Google Scholar
• WaltDR.KuhlikA.EpsteinSK.et alLessons learned from the introduction of personalized genotyping into a medical school curriculum.Genet Med.2011131636621057320
   PubMed Web of Science ®Google Scholar
• ChristensenKD.VassyJL.JamalL.et alAre physicians prepared for whole genome sequencing? A qualitative analysis.Clin Genet.201689222823426080898
   PubMed Web of Science ®Google Scholar
• KrierJB.BloutCB.DL.et alCommunication and management of genomic sequencing results by non-geneticist physicians.Paper presented at: 65th Annual Meeting of the American Society of Human Genetics; October 6-1 5, 201 5; Baltimore, MD.
   Google Scholar
• VassyJL.KorfBR.GreenRC.How to know when physicians are ready for genomic medicine. So'Transl Med.20157287287fs219
   Google Scholar
• Personalized Medicine Special Interest Group of the National Society of Genetic Counselors Expanding the practice of genomic counseling in personalized medicine: tools for genetic counselors.National Society of Genetic Counselors: Audrey Heimler Special Projects. 2011 . Available at: http:// nsgc.org/p/cm/ld/fid=286. Accessed July 2016.
   Google Scholar
• DelaneySK.HultnerML.JacobHJ.et alToward clinical genomics in everyday medicine: perspectives and recommendations.Expert Rev Mol Diagn.201616552153226810587
   PubMed Web of Science ®Google Scholar
• American College of Medical Genetics and Genomics Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics.Genet Med.201517650550725764213
   PubMed Web of Science ®Google Scholar
• BergJS.ForemanAK.O'DanielJM.et alA semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.Genet Med.201618546747526270767
   PubMed Web of Science ®Google Scholar
• ClinGenActionability Working Group evidence-based summaries. Available at: https://clinicalgenome.org/working-groups/actionability/projects-initiatives/actionability-evidence-based-summaries/ Accessed June 30, 2016.
   Google Scholar
• ChenR.ShiL.HakenbergJ.et alAnalysis of 589,306 genomes identifies individuals resilient to severe mendelian childhood diseases. WatBiotechnol.2016345531538
   Google Scholar
• SodenSE.SaundersCJ.WilligLK.et alEffectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.Sci Transl Med.20146265265168
   Web of Science ®Google Scholar
• SnowsillT.HuxleyN.HoyleM.et alA systematic review and economic evaluation of diagnostic strategies for Lynch syndrome.Health Techno! Assess.201418581406
   PubMed Web of Science ®Google Scholar
• SeverinF.StollenwerkB.Holinski-FederE.et alEconomic evaluation of genetic screening for Lynch syndrome in Germany.Genet Med.2015171076577325569434
   PubMed Web of Science ®Google Scholar
• BennetteCS.GallegoCJ.BurkeW.JarvikGP.VeenstraDL.The costeffectiveness of returning incidental findings from next-generation genomic sequencing.Genet Med.201517758759525394171
   PubMed Web of Science ®Google Scholar
• ChristensenKD.DukhovnyD.SiebertU.GreenRC.Assessing the costs and cost-effectiveness of genomic sequencing.J Pers Med.20155447048626690481
   PubMedGoogle Scholar
• DukhovnyD.ChristensenKD.VassyJL.et alShort-term costs of integrating genome sequencing into clinical care: preliminary results from the MedSeq Project. Paper presented at: 65th Annual Meeting of the American Society of Human Genetics; October 6-15, 2015; Baltimore, MD.
   Google Scholar
• HomerN.SzelingerS.RedmanM.et alResolving individuals contributing trace amounts of DNA to highly complex mixtures using highdensity SNP genotyping microarrays.PLoS Genet.200848e100016718769715
   PubMed Web of Science ®Google Scholar
• McGuireA.GibbsR.No longer de-identified.Science.2006312577237037116627725
   PubMed Web of Science ®Google Scholar
• RobertsJ.CupplesL.RelkinN.WhitehouseP.GreenRC.Genetic risk assessment for adult children of people with Alzheimer's disease: the Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study.J Geriatr Psychiatr Neurol.2005184250255
   PubMed Web of Science ®Google Scholar
• GreenRC.RobertsJS.CupplesLA.et alDisclosure of APOE genotype for risk of Alzheimer's disease.N Engl J Med.2009361324525419605829
   PubMed Web of Science ®Google Scholar
• CarereDA.CouperMP.CrawfordSD.et alDesign, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers.Genome Med.20146129625484922
   PubMedGoogle Scholar
• BlossCS.OrnowskiL.SilverE.et alConsumer perceptions of direct-to-consumer personalized genomic risk assessments.Genet Med.201012955656620717041
   PubMed Web of Science ®Google Scholar
• CassidyMR.RobertsJS.BirdTD.et alComparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease.Alzheimers Dement.20084640641319012865
   PubMed Web of Science ®Google Scholar
• ChungWW.ChenCA.CupplesLA.et alA new scale measuring psychologic impact of genetic susceptibility testing for Alzheimer disease.Alzheimer Dis Assoc Disord.2009231505619266699
   PubMed Web of Science ®Google Scholar
• AshidaS.KoehlyLM.RobertsJS.ChenCA.HirakiS.GreenRC.The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study.Eur J Hum Genet.201018121296130120664629
   PubMed Web of Science ®Google Scholar
• BlossCS.WineingerNE.DarstBF.SchorkNJ.TopolEJ.Impact of direct-to-consumer genomic testing at long term follow-up.J Med Genet.201350639340023559530
   PubMed Web of Science ®Google Scholar
• RossLF.SaalHM.DavidKL.et alTechnical report: ethical and policy issues in genetic testing and screening of children.Genet Med.201315323424523429433
   PubMedGoogle Scholar
• ASHG issues position statement on genetic testing in children and adolescents: statement addresses scientific advances, ethical questions, and implementation [press release]. Bethesda, MD: ASHG Press; July 2, 2015
   Google Scholar
• WilfondBS.FernandezCV.GreenRC.Disclosing secondary findings from pediatric sequencing to families: considering the “benefit to families”.J Law Med Ethics.201543355255826479565
   PubMed Web of Science ®Google Scholar
• GottesmanO.KuivaniemiH.TrompG.et alThe Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med.2013151076177123743551
   PubMed Web of Science ®Google Scholar
• SmollerJW.KarlsonEW.GreenR.et alAn eMERGE clinical center at Partners Personalized Medicine.J Pers Med. doi: 10.3390/jpm6010005.201661
   Google Scholar
• ChenR.MiasGl.Li-Pook-ThanJ.et alPersonal omics profiling reveals dynamic molecular and medical phenotypes.Cell.201214861293130722424236
   PubMed Web of Science ®Google Scholar
• BaptistaNM.ChristensenKD.CarereDA.BroadleySA.RobertsJS.GreenRC.Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees 2016 Jan 28. Epub ahead of print. doi:10.1038/gim. 2015. 192.Genet Med.
   Google Scholar
• MeiselSF.CarereDA.WardleJ.et alExplaining, not just predicting, drives interest in personal genomics.Genome Med.2015717426269719
   PubMedGoogle Scholar
• Van der WoudenCH.CarereDA.Maitland-vander ZeeAH.et alConsumer perceptions of interactions with primary care providers after direct-toconsumer personal genomic testing.Ann Intern Med.2016164851352226928821
   PubMed Web of Science ®Google Scholar