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Today, individuals have greater access to information about their
healththaneverbefore(Randeree,2009;Eysenbach,2008).Muchofthis
changeisdue, inlargepart, toadvancesinbiotechnologyandtheseque- ing
of the human genome (Manolio & Collins, 2009). It is now
possible, forexample, forindividualstologontotheInternetand,
forafeeofs- eral hundred dollars, order an at-home DNA collection
kit and have the
resultsofamyriadofgenetictestsdelivereddirectlytotheire-mailinbox
(Gurwitz&Bregman-Eschet,2009).Insomecases, thesetestresultsmay
indicatepersonalriskforcommonchronicdiseases, suchascertainforms
ofcancer, diabetes, cardiovasculardisease,
andseveralothers.Companies marketing these test kits often claim
that promoting greater access to and awareness of the association
between genes and health, and one's genetic susceptibilities to
disease, leads to more proactive and insig-
fulmethodsofindividualhealthmanagement(Hogarth, Javitt,&Melzer,
2008). Moreover, it is consistent with an emerging trend in
medicine - that of consumer-oriented medicine - which places health
information
toolsdirectlyinthehandsofpatientsunderthepremiseoffosteringbetter
patient-providercollaboration(Silvestre, Sue,&Allen,2009).
Though the principles behind this direct-to-consumer approach to
genetics seem laudable and perhaps even exciting, there is consid-
ablecontroversyastowhat, ifany, utilitytheinformationactuallyholds
(Geransar&Einsiedel,2008;Wasson,
Cook,&Helzlsouer,2006).Unlike
geneticteststhatarediagnostic(e.g., chromosomeanalysisforDowns-
drome)orhighlypredictive(e.g., BRCA1andBRCA2testingforhereditary
breast-ovarian cancer risk), this new wave of presymptomatic
predictive
genetictestsforcommondiseaseyieldsresultsthataremuchmoreunc-
tainbecausethestatisticalmodelsonwhichtheyarepresentlybasedare
imperfectandwithlimiteddata(Ng, Murray, Levy,&Venter,2009).
Theabovescenarioraisesmanyquestionsfortoday'shealth-carec- sumers.
For example, for whom is this information applicable, and for
whatpopulationsorsubpopulationsisitnot?Underwhatcircumstances might
this information be useful, and when should it be disregarded as
irrelevant?Andperhapsmostimportantly, what, ifanything, canbedone
inlightofinformationaboutpersonalgeneticrisktoeffectivelylowerthe
oddsofbecomingsickandraisetheoddsofstayinghealthy? vii viii PREFACE
Becausetheprevalenceofmostdiseasesvariesasafunctionofage, gender,
race/ethnicity, and other personal characteristics, answers to
these questions are complex and many are just beginning to be und-
stood(Khouryetal.,2009).Someexpertshaveconcludedthattheanswers
tosuchquestionsremainoutofreachatthepresenttimeandmayc- tinue to be
elusive for another 5-10 years (Frazer, Murray, Schork, &
Topol,2009).Yet, twenty-?rstcenturyhealth-careconsumers, providers,
and policy makers face these choices now about incorporating
personal genetic information into health management and often do so
without a complete and accurate understanding of the potential
impact of their decisionsonmultiplelevels(Carlson,2009).
Today, individuals have greater access to information about their
healththaneverbefore(Randeree,2009;Eysenbach,2008).Muchofthis
changeisdue, inlargepart, toadvancesinbiotechnologyandtheseque- ing
of the human genome (Manolio & Collins, 2009). It is now
possible, forexample, forindividualstologontotheInternetand,
forafeeofs- eral hundred dollars, order an at-home DNA collection
kit and have the
resultsofamyriadofgenetictestsdelivereddirectlytotheire-mailinbox
(Gurwitz&Bregman-Eschet,2009).Insomecases, thesetestresultsmay
indicatepersonalriskforcommonchronicdiseases, suchascertainforms
ofcancer, diabetes, cardiovasculardisease,
andseveralothers.Companies marketing these test kits often claim
that promoting greater access to and awareness of the association
between genes and health, and one's genetic susceptibilities to
disease, leads to more proactive and insig-
fulmethodsofindividualhealthmanagement(Hogarth, Javitt,&Melzer,
2008). Moreover, it is consistent with an emerging trend in
medicine - that of consumer-oriented medicine - which places health
information
toolsdirectlyinthehandsofpatientsunderthepremiseoffosteringbetter
patient-providercollaboration(Silvestre, Sue,&Allen,2009).
Though the principles behind this direct-to-consumer approach to
genetics seem laudable and perhaps even exciting, there is consid-
ablecontroversyastowhat, ifany, utilitytheinformationactuallyholds
(Geransar&Einsiedel,2008;Wasson,
Cook,&Helzlsouer,2006).Unlike
geneticteststhatarediagnostic(e.g., chromosomeanalysisforDowns-
drome)orhighlypredictive(e.g., BRCA1andBRCA2testingforhereditary
breast-ovarian cancer risk), this new wave of presymptomatic
predictive
genetictestsforcommondiseaseyieldsresultsthataremuchmoreunc-
tainbecausethestatisticalmodelsonwhichtheyarepresentlybasedare
imperfectandwithlimiteddata(Ng, Murray, Levy,&Venter,2009).
Theabovescenarioraisesmanyquestionsfortoday'shealth-carec- sumers.
For example, for whom is this information applicable, and for
whatpopulationsorsubpopulationsisitnot?Underwhatcircumstances might
this information be useful, and when should it be disregarded as
irrelevant?Andperhapsmostimportantly, what, ifanything, canbedone
inlightofinformationaboutpersonalgeneticrisktoeffectivelylowerthe
oddsofbecomingsickandraisetheoddsofstayinghealthy? vii viii PREFACE
Becausetheprevalenceofmostdiseasesvariesasafunctionofage, gender,
race/ethnicity, and other personal characteristics, answers to
these questions are complex and many are just beginning to be und-
stood(Khouryetal.,2009).Someexpertshaveconcludedthattheanswers
tosuchquestionsremainoutofreachatthepresenttimeandmayc- tinue to be
elusive for another 5-10 years (Frazer, Murray, Schork, &
Topol,2009).Yet, twenty-?rstcenturyhealth-careconsumers, providers,
and policy makers face these choices now about incorporating
personal genetic information into health management and often do so
without a complete and accurate understanding of the potential
impact of their decisionsonmultiplelevels(Carlson,2009).
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