Translational Informatics in Smart Healthcare

222 Pages·2017·4.672 MB·English

by  Bairong Shen (eds.)

Advances in Experimental Medicine and Biology 1005
Bairong Shen Editor
Translational
Informatics
in Smart
Healthcare
Advances in Experimental Medicine
and Biology
Volume 1005
EditorialBoard
IRUNR.COHEN,TheWeizmannInstituteofScience,Rehovot,Israel
ABEL LAJTHA, N.S., Kline Institute for Psychiatric Research, Orangeburg,
NY,USA
JOHND.LAMBRIS,UniversityofPennsylvania,Philadelphia,PA,USA
RODOLFOPAOLETTI,UniversityofMilan,Milan,Italy
Moreinformationaboutthisseriesathttp://www.springer.com/series/5584
Bairong Shen
Editor
Translational Informatics
in Smart Healthcare
Editor
BairongShen
CenterforSystemsBiology
SoochowUniversity
Suzhou,Jiangsu,China
ISSN0065-2598 ISSN2214-8019 (electronic)
AdvancesinExperimentalMedicineandBiology
ISBN978-981-10-5716-8 ISBN978-981-10-5717-5 (eBook)
DOI10.1007/978-981-10-5717-5
LibraryofCongressControlNumber:2017951623
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Contents
1 InformaticsforPrecisionMedicineandHealthcare. . . . . . . . . . . . . 1
JiajiaChen,YuxinLin,andBairongShen
2 GeneticTest,RiskPrediction,andCounseling. . . . . . . . . . . . . . . . . 21
MaggieHaitianWangandHaoyiWeng
3 NewbornScreeningintheEraofPrecisionMedicine. . . . . . . . . . . . 47
LanYang,JiajiaChen,andBairongShen
4 TraceElementsandHealthcare:ABioinformaticsPerspective. . . . 63
YanZhang
5 TongueImageAnalysisandItsMobileAppDevelopment
forHealthDiagnosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99
RatchadapornKanawong,TayoObafemi-Ajayi,DahaiLiu,
MengZhang,DongXu,andYeDuan
6 PhysicalExercisePrescriptioninMetabolicChronicDisease. . . . . . 123
LauraStefaniandGiorgioGalanti
7 InformaticsforNutritionalGeneticsandGenomics. . . . . . . . . . . . . 143
YuanGaoandJiajiaChen
8 InteractionsBetweenGenetics,Lifestyle,andEnvironmental
FactorsforHealthcare. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 167
YuxinLin,JiajiaChen,andBairongShen
9 CohortResearchin“Omics”andPreventiveMedicine. . . . . . . . . . 193
YiShen,ShengZhang,JieZhou,andJiajiaChen
v
Chapter 1
Informatics for Precision Medicine
and Healthcare
JiajiaChen,YuxinLin,andBairongShen
Abstract Thepastdecadehaswitnessedgreatadvancesinbiomedicalinformatics.
Biomedicalinformaticsisanemergingfieldofhealthcarethataimstotranslatethe
laboratory observation into clinical practice. Smart healthcare has also developed
rapidly with ubiquitous sensor and communication technologies. It is able to
capture the online patient-centric phenotypic variables, thus providing a rich
information basefor translational biomedicalinformatics.Biomedicalinformatics
andsmarthealthcare representtwointerrelateddisciplines.Ononehand,biomed-
ical informatics translates the bench discoveries into bedside, and, on the other
hand,itisreciprocallyinformedbyclinicaldatageneratedfromsmarthealthcare.
In this chapter, we will introduce the major strategies and challenges in the
application of biomedical informatics technology in precision medicine and
healthcare.Wehighlighthowtheinformaticstechnologywillpromotetheprecision
medicineandthereforepromisetheimprovementofhealthcare.
Keywords Healthcare•Informatics•Precisionmedicine•Sensor
J.Chen
SchoolofChemistry,BiologyandMaterialsEngineering,SuzhouUniversityofScienceand
Technology,No.1Keruiroad,Suzhou,Jiangsu215011,China
Y.Lin
CenterforSystemsBiology,SoochowUniversity,No.1ShiziStreet,Suzhou,Jiangsu215006,
China
B.Shen(*)
CenterforSystemsBiology,SoochowUniversity,No.1ShiziStreet,Suzhou,Jiangsu215006,
China
SuzhouInstituteofBiomedicalEngineeringandTechnology,ChineseAcademyofSciences,
Suzhou,Jiangsu215163,China
MedicalCollegeofGuizhouUniversity,Guiyang550025,China
e-mail:[email protected]
©SpringerNatureSingaporePteLtd.2017 1
B.Shen(ed.),TranslationalInformaticsinSmartHealthcare,Advancesin
ExperimentalMedicineandBiology1005,DOI10.1007/978-981-10-5717-5_1
2 J.Chenetal.
1.1 Introduction
In the 2015 State of the Union address, US President Barack Obama launched
Precision Medicine Initiative (PMI) with a national investment of $215 million
[1]. PMI will pioneer biomedical research that takes into account the individual
variability ingenes, environment, andlifestyle [2], thereby leading to the patient-
centered healthcare. Precision medicine falls within the scope of P4 medicine,
which is preventive, predictive, personalized, and participatory [3]. It will change
thehealthcarefromitscurrentreactivemodetoamoreproactiveandrationalone.
In P4 medicine, clinicians focus on prevention rather than disease management.
Theycandetermineaprioritheriskandtherapeuticresponsesofeachpatientbased
on unique genetic makeup and customize medical treatment. P4 medicine also
enables individuals to become active and responsible participants in their own
health[4].
P4medicineishighlydependentontheavailabilityoftrustablebiomedicaldata
and the ability to manage the heterogeneous datasets with high levels of dimen-
sionality.Translationalbiomedicalinformatics(TBI)isarapidlyemergingfieldof
health informatics to advance P4 medicine. High-throughput technologies
represented by next-generation sequencing have generated myriad of biomedical
information at different levels, from the molecules to tissues, individuals, and all
the way to population [5]. The fields of molecular, imaging, clinical, and public
health informatics are converging into the emerging field of TBI [6]. TBI mainly
exploitstheheterogeneousdatawealthfromthebenchtoformulateknowledgefor
bedsideapplication[7].
TheprospectofapplyingP4medicinehasbeenboostedstillfurtherbytherecent
developmentofsmarthealthcaretechnologies[8].Smarthealthcareisarecentterm
for healthcare practice. It typically refers to the use of smart devices with the
capability to generate and disseminate health information to deliver healthcare
services. Smart devices are a set of advanced electronics, sensors, and ubiquitous
computing devices connected via different network protocols that can operate
interactivelyandautonomously[9].
In addition to smart healthcare, there are several competing terms including
eHealth,mHealth,telemedicine,andconnectedhealth,eachofwhichhastheirown
definitions.TheWHO’sdefinitionofeHealthisthe“cost-effectiveandsecureuse
of information and communications technologies in support of health and health
related fields.” [10] This is a broad definition including several subfields such as
telemedicine,mHealth,andconnectedhealth.Telemedicineemploysmoderncom-
munication technologies to transfer medical information among treatment sites
improving healthcare [11]. mHealth is the successor to telemedicine, which
describes the delivery of healthcare services via mobile devices [12, 13] such as
cellphonesandlaptops.Connectedhealthalsooriginatesfromtelemedicine,which
is a healthcare delivery model that uses advanced technologies to provide
healthcare remotely [14, 15]. Although smart healthcare partially overlap in
1 InformaticsforPrecisionMedicineandHealthcare 3
definitionwithmhealth,itisdistinguishedfrommhealthbyawiderrangeofsensors
andconsumerelectronicgoodsandmoreubiquitouscomputingproperties.
Technologicaladvancesinsensingandcommunicationaretwoenablersforthe
deliveryofsmarthealthcareservices.Sensingtechnologyenablesasmartphysical
environment inwhich nontraditional data on individual activities and lifestyle are
recordedbysmartsensors[16].Networkingandcommunicationincreasethereach
and mobility of healthcare providers and also enable users to access pertinent
services anywhere and anytime. Therefore, smart healthcare represents a frame-
workintegratinginnovativenetworkingandcommunicationtechnologies,medical
sensor, and ubiquitous computing devices for improved healthcare delivery and
services. The penetration of smart device has been substantial within the medical
communityandcontinuestogrow.Asaresult,smarthealthcareistransformingthe
deliveryofhealthcareinvirtuallyallareasofmedicine.
Information is the bedrock upon which translational biomedical informatics
drivestranslation.Theincreasingamountandvarietyofdatafromsmarthealthcare
ononehandhaswidentheTBI’sarsenaltoacquirerelevantdataand,ontheother
hand,inevitablyaddedtodatacomplexity[17].Inthispaperwedescribehowthe
partnershipbetweenTBIandsmarthealthcareisexpectedtocatalyzeaneweraof
P4 medicine. We also discuss the fundament issues and challenges inthe integra-
tionoftwodomainsforimprovedhealthcaredelivery.
1.2 Search Strategy
Forthisliteraturereview,wesearchedMEDLINEcitationsandWebofSciencefor
all papers that discuss the use of smart health technologies by healthcare pro-
fessionals or patients. We performed a complex query which included various
search terms appearing in the title or abstract. The search terms used for eligible
articles were “smart, sensors, healthcare, informatics, vital signs, P4 medicine,
translational,internet.”Thesearchwasrestrictedtojournalpapersthatwerewritten
inEnglishandpublisheduntilSeptember20,2015.Tobefullyinclusive,wealso
searchedreferencelistsintheretrievedpapers.Titlesandabstractswerereviewed
byahumanforeligibility.Paperswereexcludediftheywerenotdirectlyrelatedto
smarthealthcare.Full-textpaperswereretrievedfollowedbyafull-textreview.
1.3 TBI and Smart Healthcare
Technologicalinnovationsinhigh-throughputexperimentaltechniques,e.g.,next-
generation sequencing and molecular imaging have produced unprecedented vol-
ume of biomedical data. This data wealth is making the research community,
includingbiomedicalscientistsandclinicianswellinformedonthegenetic,geno-
mic, clinical, and environmental background of the patient. However, such high-
4 J.Chenetal.
dimensional data spans multiple disciplines and are often difficult to apply in
practice.
Translational biomedical informatics is an emerging field of healthcare that
supports the transfer of biological observations from bench into rational care at
thebedside.Translationalbiomedicalinformaticsencompassesfoursubdisciplines:
bioinformatics, imaging informatics, clinical informatics, and public health infor-
matics [18]. Each subdiscipline aims at a unique research domain and therefore
features domain-specific informatics tools and output formats. Table 1.1 summa-
rizesthespectrumofTBIdisciplines.ThefoursubdisciplinesofTBIarecontrasted
accordingtoresearchmethodologiesandoutputdataformats.
1.3.1 Bioinformatics
Simplydefined,bioinformaticsistheuseofcomputationaltoolstointerpretinfor-
mation from genomes and their derivatives (e.g., transcriptomes, proteomes, and
metabolomes). Thus, bioinformatics approaches can readily identify molecules or
cellularcomponentsastargetsofclinicalinterventions,allowingforbetterknowl-
edgeofthemechanismofthedisease.
The bioinformatics tools have generated a variety of health data at molecular
level, including gene sequences, mutations, rearrangements, and changes in the
expression of RNA and proteins. The multidimensional research data have been
catalogedbyanexpandingarrayofpublicdatabases.Anumberofresearchprojects
such as TCGA, the Therapeutically Applicable Research to Generate Effective
Treatments (TARGET) Initiative, and the Cancer Target Discovery and Develop-
ment (CTD2) Network, Tumor Microenvironment Initiative (TMEN), and the
Integrative Cancer Biology Program (ICBP) have been conducted. These global
data collection programs would support the genomics study and translational
investigation.
1.3.2 Imaging Informatics
Imaging technologies use visualization approaches to measure and monitor the
pathogenesis of diseases at the tissue or organ level [19, 20]. It focuses on the
interpretationoftheinformationderivedfromimagingdevices.
Imaginginformaticsisexpectedtoprovidehigh-valuemedicalinformationfrom
thevisualimagesforearlydiagnosisandtreatmentofdiseases.Thelargeamountof
medicalimageshavealsobeenorganizedandcatalogedforpublicaccessthrough
programs such as NCI’s Quantitative Imaging Network and The Cancer Imaging
Archive (TCIA). In addition to data collection, these open archives also deploy a
number of imaging informatics tools such as the National Biomedical Imaging
Archive and RSNA Clinical Trials Processor to enable the sharing of medical
imagesacrossmultipleresearchgroups.