Disclosure of Genetic Information and Change in Dietary

Intake: A Randomized Controlled Trial

Daiva E. Nielsen, Ahmed El-Sohemy*
Department of Nutritional Sciences, University of Toronto, 150 College St, Toronto, ON, M5S 3E2, Canada

Abstract
Background: Proponents of consumer genetic tests claim that the information can positively impact health behaviors and
aid in chronic disease prevention. However, the effects of disclosing genetic information on dietary intake behavior are not
clear.
Methods: A double-blinded, parallel group, 2:1 online randomized controlled trial was conducted to determine the shortand long-term effects of disclosing nutrition-related genetic information for personalized nutrition on dietary intakes of
caffeine, vitamin C, added sugars, and sodium. Participants were healthy men and women aged 2035 years (n = 138). The
intervention group (n = 92) received personalized DNA-based dietary advice for 12-months and the control group (n = 46)
received general dietary recommendations with no genetic information for 12-months. Food frequency questionnaires were
collected at baseline and 3- and 12-months after the intervention to assess dietary intakes. General linear models were used
to compare changes in intakes between those receiving general dietary advice and those receiving DNA-based dietary
advice.
Results: Compared to the control group, no significant changes to dietary intakes of the nutrients were observed at 3months. At 12-months, participants in the intervention group who possessed a risk version of the ACE gene, and were
advised to limit their sodium intake, significantly reduced their sodium intake (mg/day) compared to the control group
(2287.36114.1 vs. 129.86118.2, p = 0.008). Those who had the non-risk version of ACE did not significantly change their
sodium intake compared to the control group (12-months: 2244.26150.2, p = 0.11). Among those with the risk version of
the ACE gene, the proportion who met the targeted recommendation of 1500 mg/day increased from 19% at baseline to
34% after 12 months (p = 0.06).
Conclusions: These findings demonstrate that disclosing genetic information for personalized nutrition results in greater
changes in intake for some dietary components compared to general population-based dietary advice.
Trial Registration: ClinicalTrials.gov NCT01353014
Citation: Nielsen DE, El-Sohemy A (2014) Disclosure of Genetic Information and Change in Dietary Intake: A Randomized Controlled Trial. PLoS ONE 9(11):
e112665. doi:10.1371/journal.pone.0112665
Editor: Margaret M. DeAngelis, University of Utah, United States of America
Received June 30, 2014; Accepted September 17, 2014; Published November 14, 2014
Copyright:  2014 Nielsen, El-Sohemy. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits
unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Data Availability: The authors confirm that all data underlying the findings are fully available without restriction. Data are from the Toronto Nutrigenomics and
Health study whose authors may be contacted at [email protected].
Funding: This study was supported by a grant from the Advanced Foods and Materials Network (AFMNet) and the Canadian Institutes of Health Research (CIHR;
MOP-89829). AE-S holds a Canada Research Chair in Nutrigenomics. DEN is a recipient of an Ontario Graduate Scholarship and a Banting & Best Diabetes Centre
Graduate Studentship. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Competing Interests: The authors have read the journals policy and the authors of this manuscript have the following competing interests: AE-S holds shares
in Nutrigenomix Inc., a genetic testing company for personalized nutrition. This does not alter the authors adherence to PLOS ONE policies on data sharing and
materials.
* Email: [email protected]

number of modifiable health behaviors such as diet, physical

activity and smoking, but lifestyle interventions aimed at achieving
positive health behavior changes are often ineffective at producing
the long-term changes necessary to mitigate disease risk [4]. As a
result, proponents of personalized medicine claim that health
recommendations tailored to an individuals genetic profile may be
more effective at producing behavior change than generic
population-based recommendations. A growing body of qualitative research shows strong public interest in genomics and
personalized medicine for disease prevention [59], but there is
limited quantitative evidence to support the claim that personalized genomics can be employed as a useful prevention tool.

Introduction
Personal genetic information has become easily obtainable, in
large part due to the advancement of the consumer genetic testing
industry. As a result of the decreasing costs to carry out
genotyping, individuals can now receive personalized feedback
regarding their susceptibility to a number of different health
conditions at a relatively low cost [1]. The impact that this
information may have on health behaviors is of particular interest
[2,3], since chronic diseases such as cardiovascular disease and
type 2 diabetes have become major public health concerns. There
is considerable evidence that these conditions are associated with a

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Disclosure of Genetic Information and Change in Dietary Intake

eligible participants were those who consumed at least 100 mg of

caffeine per day, 10% of energy from total sugars per day, and
1,500 mg of sodium per day and did not take vitamin Ccontaining supplements. Eligible women who were pregnant or
breast-feeding at the time of recruitment were excluded from the
study Subjects were given information on portion sizes, which
were indicated for most FFQ items, and were asked to select how
frequently they consumed the items over the past month from a list
of frequency responses. The FFQ was used to collect detailed
information on intake of fruits and vegetables, dairy products,
meats and alternatives, grain products, sweets and baked goods,
processed and prepared foods, and caffeinated and non-caffeinated beverages. Nutrient analyses were carried out at the
Harvard School of Public Health Channing Laboratory using
the USDA National Nutrient Database for Standard Reference.
Randomization was done by study personnel who used a
computer software program (Random Allocation Software) that
generated a random list of assignments. A 2:1 ratio of participants
in the intervention group compared to the control group was
applied since the intervention group consisted of those who would
have either the risk or non-risk genotype for each of the four
genes (Table 1). Participants were informed that they would
receive DNA-based dietary advice at some point during the study
and those who were randomized to the control group were given
the DNA-based advice after the final follow-up assessment was
completed. Dietary intakes were self-reported by participants on
the FFQ with no assistance from study personnel, and the nutrient
analyses were made without knowledge of study group assignment.
DNA was isolated from whole blood with the GenomicPrep Blood
DNA Isolation kit (Amersham Pharmacia Biotech Inc, Piscataway,
NJ) and genotyping was completed using either real-time
polymerase chain reaction on an ABI 7000 Sequence Detection
System (Applied Biosystems) or a multiplex restriction fragment
length polymorphism (RFLP) polymerase chain reaction method,
as described previously [16,17]. Genotyping was verified by using
positive control subjects in each 96-well plate as well as a second
genotyping of ,5% of a random selection of samples with 100%
concordance.

The study of how human genetic variations modify an

individuals response to diet on various health outcomes, often
referred to as nutrigenomics or nutrigenetics, is a key part of
personalized medicine [10] because nutrition is arguably one of
the most important modifiers of chronic disease risk [11]. Many
direct-to-consumer genetic tests provide single nucleotide polymorphism (SNP)-based estimates of disease susceptibility that do
not take into account environmental factors. For complex diseases,
including diet-related chronic diseases, risk estimates based solely
on genetic variation without consideration of environmental
interactions can be inaccurate [12]. Therefore, genetic testing
for personalized nutrition using modifier or metabolic genes may
have the potential to be more useful than genetic testing for disease
risk using disease susceptibility genes because the advice that is
given from a personalized nutrition test is more specific and
actionable than advice from a disease susceptibility test. Indeed, a
previous study demonstrated that individuals consider DNA-based
dietary advice to be more useful and understandable than general
population-based dietary recommendations, and individuals
report that they would be more motivated to change their diet if
provided with personalized nutrition information based on their
genetics [13]. Individuals who have had their genomes analyzed
report that the genetic information impacted their dietary
behaviors, although the genetic information they received was
not necessarily linked to any specific dietary modification [14,15].
Despite this evidence, no previous study has examined the effect of
disclosing personalized genetic information based on nutrigenomics testing on dietary intake behavior. In addition, previous
studies investigating the impact of personal genomic information
related to disease susceptibility on health behaviors have lacked
long-term follow-up data. As a result, the short- and long-term
effects of personal genomic information on health behaviors are
largely unknown. Therefore, the objective of the present study was
to determine the short- and long-term effects of disclosing genetic
information for personalized nutrition on dietary intake in a
population of young adults using a randomized controlled trial
(Table 1).

Materials and Methods

Dietary Reports and Recommendations

Ethics Statement

Subjects in the intervention group were genotyped for variants

that affect caffeine metabolism (CYP1A2) [18,19], vitamin C
utilization (GSTT1 and GSTM1) [17], sweet taste perception
(TAS1R2) [20], and sodium-sensitivity (ACE) [21,22] (Table 1).
These genes were selected as representative sample tests from
consumer genetic testing companies, which are based on studies of
gene-diet interactions using a candidate gene approach. Although
newer experimental approaches such as genome-wide association
studies (GWAS) are being used to identify genetic variants
associated with disease susceptibility, to date only a few GWAS
studies have investigated gene-diet interactions on health outcomes
[23,24]. Thus, the purpose of the present study was to evaluate the
behavioral response to disclosing genetic information, not to
validate the clinical efficacy of the genetic variants provided in the
dietary advice reports. Dietary reports were sent to all subjects by
e-mail. The dietary report for subjects in the intervention group
informed subjects of their genotypes and included a corresponding
DNA-based dietary recommendation for daily intake of caffeine,
vitamin C, added sugars and sodium (Nutrigenomix Inc., Toronto,
Canada). Those who possessed the genotype that has been
associated with increased risk of a health outcome when
consuming above or below a certain daily amount were given a
targeted dietary recommendation. For caffeine and sodium, this
recommendation was more stringent than the current general

Ethics approval was obtained from the University of Toronto

Institutional Review Board and the study is registered with http://
clinicaltrials.gov (NCT 01353014). All subjects provided written
informed consent. The protocol for this trial and supporting
CONSORT checklist are available as supporting information; see
Checklist S1 and Protocol S1.

Study Design and Subjects

The present study was intended to mimic the nature of a directto-consumer genetic test such that all study materials were
distributed and completed in the mail or electronically and no
in-person contact was made with subjects for the present study.
Details on the study design have been published elsewhere [13].
Briefly, subjects (n = 157) who had previously participated in a
nutrigenomics research study and had provided a blood sample
were invited to complete a 196-item, semi-quantitative Torontomodified Willet food frequency questionnaire (FFQ) and were then
randomized to an intervention or control group (Figure 1). Subject
recruitment occurred from May 2011 to August 2011, the 3month follow-up assessment occurred from September 2011 to
January 2012 and the 12-month follow-up assessment took place
from June 2012-October 2012. Since the recommendations in this
study were based on caffeine, vitamin C, sugar, and sodium,
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Table 1. Prevalence of risk alleles in intervention group (n = 92) and associated risk.

Dietary
Component

Gene

Risk Allele

Non-Risk Allele Associated Risk

n (%)
Caffeine

CYP1A2

48 (52)

44 (48)

Increased risk of myocardial infarction and hypertension when consuming above

200 mg of caffeine/day
General recommendation: #300 mg/day for women of child-bearing age
#400 mg/day for other adults
Targeted Recommendation: #200 mg/day for those with risk version of CYP1A2

Vitamin C

GSTM1 + GSTT1

52 (57)

40 (43)

Increased risk of serum ascorbic acid deficiency when consuming below the RDA for
vitamin C
General recommendation: RDAa for women: $75 mg/day
RDA for men: $90 mg/day
Targeted Recommendation: Same as general recommendation

Added Sugars

TAS1R2

41 (45)

51 (55)

Increased risk of over-consuming sugars

General recommendation: #10% energy/day
Targeted Recommendation: Same as general recommendation

Sodium

ACE

64 (70)

28 (30)

Increased risk of sodium-sensitive hypertension when consuming above the AI for

sodium
General recommendation: ULb: #2300 mg/day
Targeted Recommendation: AIc: #1500 mg/day for those with risk version of ACE

RDA: Recommended dietary allowance.

UL: Tolerable upper intake level.
c
AI: Adequate intake.
doi:10.1371/journal.pone.0112665.t001
b

characteristics between the intervention and control group were

compared using a Chi-square test for categorical variables and a
Students t-test for continuous variables. The distributions of
nutrient intakes were examined and a log transformation was
applied to those that deviated from normality. In these cases, the
p-values from models using transformed values are reported, but
untransformed means and measures of spread are reported to
facilitate interpretation. Subjects who were likely under-reporters
(consuming less than 800 kcal/day) were excluded from the
analyses, since dietary intake data from these individuals may not
have been reliable. Baseline mean intakes of vitamin C, sugar,
sodium and caffeine were compared between ethnocultural groups
using general linear models to determine if any significant dietary
differences were present between groups at the start of the study.
General linear models were also conducted to test for changes in
dietary intakes between baseline and 3-months, and baseline and
12-months, in order to determine the effect of the dietary advice
over a short- and long-term period. The Tukey-Kramer test for
multiple comparisons was applied to determine whether any
changes in intake of the intervention groups differed from the
change in intake of the control group. The Chi-square test was
used to compare the proportion of subjects meeting the
recommendations for intake between baseline and the follow-up
assessments. Fishers Exact Test was used if a proportion category
consisted of fewer than 5 subjects.

recommendation for daily intake and was based on previous work

that evaluated health outcomes according to genotype at different
levels of intake [18,19,21,22]. For added sugars and vitamin C,
subjects were informed to be particularly mindful of meeting the
current general recommendation for daily intake, since no
previous study has examined how individuals respond to
consuming various levels of these nutrients according to genotype
and, therefore, a different intake level could not be recommended.
Subjects who possessed the genotype that has not been associated
with increased risk received the current general recommendation
for daily intake [2527]. The control group was e-mailed a report
of current general recommendations for the same nutrients
without genetic information. Subjects were e-mailed a monthly
reminder of their dietary report and additional FFQs were
collected at 3- and 12-month follow-up assessments.

Study outcomes
The primary study outcome was change in dietary intakes of
caffeine, vitamin C, added sugars, and sodium between the control
and intervention groups from baseline to the follow-up assessments. Changes in dietary intakes were examined between
baseline and 3-months to determine the short-term effects of the
intervention, while changes in intakes between baseline and 12months were examined to determine the long-term effects. The
secondary study outcome was to compare the proportion of
participants who met the recommendations for intake before and
after the intervention for dietary components that significantly
changed between the control and intervention groups.

Results
Subject Characteristics

Statistical Analyses

Of the 157 subjects who were sent the baseline FFQ, 125
completed the 12-month study giving an overall retention rate of
80% (Figure 1). In relation to those who were randomized (n = 138),
this represents 91% of subjects who completed the 12-month study.

Statistical analyses were performed using the Statistical Analysis

Software (version 9.2; SAS Institute Inc., Cary, NC). The a error
was set at 0.05 and all reported p-values are two-sided. Subject
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Disclosure of Genetic Information and Change in Dietary Intake

Figure 1. Consolidated standards of reporting trials (CONSORT) diagram and subject flow through the trial.
doi:10.1371/journal.pone.0112665.g001

The mean age of the participants was 26.563.0 years and 78% were
female. The study population was multi-ethnic with Caucasian, East
Asian, and South Asian groups representing the majority of ethnic
backgrounds. Over half of the population possessed at least an
undergraduate degree. There were no significant differences
between the characteristics of participants in the intervention group
when compared to the control group (Table 2). However, a
significant difference in baseline sodium intake (mg/day) was
observed between the East Asian and Caucasian groups (18376147
vs. 2319688, p = 0.03). As a result, the general linear models
examining changes in dietary intakes are adjusted for ethnocultural
group. At baseline, the proportion of subjects who did not meet the
general recommendation for caffeine, vitamin C, added sugars and
sodium were 9%, 14%, 24% and 39%, respectively. Thirty eight
percent of subjects did not meet the targeted recommendation (for
those with elevated risk) for caffeine intake at baseline, while 80%
did not meet the targeted recommendation for sodium intake. The
targeted recommendation for vitamin C and added sugars was the
same as the general recommendations.

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Changes in Dietary Intakes

Of the 138 subjects who were randomized, 135 completed the
3-month follow-up and 130 were included in the 3-month analyses
(n = 5 under-reporters excluded). At 12 months, 125 subjects
completed the follow-up and 123 were included in the analyses
(n = 2 under-reporters excluded). There were no differences in the
baseline characteristics (e.g. age, proportion of males/females)
between those who were included in the final analysis and those
who were not. Compared to the control group, no significant
changes from baseline were observed for intakes of caffeine,
vitamin C, added sugars, or sodium at the 3-month follow-up
among subjects in the intervention group who carried a risk
version of the corresponding gene (intervention risk group) or
among subjects who carried the non-risk version (intervention
non-risk group). At the 12-month follow-up, subjects in the
intervention group who were informed that they possessed the risk
version of the ACE gene, and who were given the targeted advice
to consume below the Adequate Intake (AI) of 1500 mg/day of
sodium, significantly reduced their mean sodium intake (mg/day)
from baseline when compared to the control group
4

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Table 2. Participant characteristics.

Intervention
(n = 92)

Control
(n = 46)

p-value

n (%)
Age (years)*

2763

2663

0.82

Female

69 (75)

37 (80)

0.48

Caucasian

59 (64)

24 (52)

0.18

East Asian

19 (21)

12 (26)

0.47

South Asian

9 (10)

6 (13)

0.56

Other

5 (5)

4 (9)

0.46

9 (10)

8 (17)

0.20

Ethnicity

Education
Some college or undergraduate training
College or undergraduate degree

50 (54)

22 (48)

0.47

Graduate degree

33 (36)

16 (35)

0.90

Values shown are mean 6 standard deviation.

doi:10.1371/journal.pone.0112665.t002

although it has a small effect on ones intention to change [32].

However, the genomic information provided in those studies was
related to disease susceptibility, not personalized nutrition, and the
studies lacked a long-term follow-up assessment. Moreover,
participants in previous studies were not provided with personalized recommendations on what behavioral strategies should be
followed to mitigate disease risk. Results from the present study
provide evidence that genetic testing for personalized nutrition
may be more clinically useful for motivating favorable dietary
changes than testing for disease susceptibility, since a change in
sodium intake was observed after 12-months among the intervention risk group. In line with this finding, a previous study
comparing a personalized, DNA-based weight loss diet with a
traditional weight loss diet reported that subjects on the
personalized diet had greater dietary adherence, longer-term
maintenance of weight loss and greater improvements in fasting
blood glucose levels [33]. In addition, a study investigating health
behavior changes after revealing genetic risk for Alzheimers
disease reported that the addition of a vitamin E supplement was
the most common change to vitamin or medication use among
subjects who were informed that they were at greater genetic risk
[34].
Although changes were observed in dietary intakes of sodium
among the intervention-risk group of subjects at the 12-month
follow-up, no changes in intakes of caffeine, vitamin C or added
sugars were observed at either follow-up assessment. This may be
due to the baseline intakes of these nutrients that were already
mostly in line with the recommendations that were given to the
subjects who possessed a risk allele, which is a limitation of the
present study. Nevertheless, variants in other genes involved in
reward pathways may play a role in ones ability to reduce
consumption of some of these dietary components [16,35]. Indeed,
the National Human Genome Research Institute has recommended investigation into the potential for genomic information to
improve behavior change interventions by customizing interventions to individuals based on genetic markers of adherence [36,37].
Despite the lack of an intervention effect on intake of these three
dietary components in the present study, it is worth noting that
subjects who possessed a non-risk allele for the corresponding
genes did not shift to a less desirable level of intake by increasing

(2287.36114.1 vs. 129.86118.2, p = 0.008), which did not

receive genetic information and was given the general recommendation for sodium intake (Tolerable Upper Intake Level (UL): #
2300 mg/day). The mean change in sodium intake (mg/day)
among subjects who were informed that they possessed the nonrisk version of the ACE gene, and who were advised to follow the
general recommendation for sodium intake, did not differ from the
change in intake of the control group at 12-months
(2244.26150.2 vs. 129.86118.2, p = 0.11). The mean changes
in intakes from baseline for caffeine, vitamin C and added sugars
did not differ from the control group at the 12-month follow-up
among either the intervention-risk or intervention non-risk groups
(Table 3).
At the 12-month follow-up assessment 66% of subjects in the
intervention risk group, 65% of subjects in the intervention nonrisk group and 68% of subjects in the control group met the
general recommendation for sodium intake of #2300 mg/day. In
addition, 34% of subjects in the intervention risk group, 19% of
subjects in the intervention non-risk group and 24% of subjects in
the control group met the targeted recommendation for sodium
intake of #1500 mg/day. These proportions were not significantly
different between the control and intervention groups. Among
those in the intervention group who had the risk version of the
ACE gene, 19% met the targeted recommendation of #1500 mg/
day at baseline compared to 34% after 12 months (p = 0.06), and
59% met the general recommendation of #2300 mg/day at
baseline compared to 66% after 12 months (p = 0.41).

Discussion
The present study is the first to evaluate the effects of disclosing
genetic information related to personalized nutrition on dietary
intake and the findings show that DNA-based dietary advice
results in greater changes in intake for some dietary components
compared to population-based dietary advice. Dietary modification is an important health behavior for chronic disease
prevention. Changes in health behaviors have not been frequently
reported in previous studies that have investigated the effect of
disclosing genetic information related to disease risk [2831] and a
2010 Cochrane review concluded that disclosing genetic risk
information for disease has little impact on actual behavior,
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44
43

Intervention non-risk

Control

6
43

Control

p-values are for log-transformed values.

Results are adjusted for ethnicity.
doi:10.1371/journal.pone.0112665.t003

63
27

Intervention risk

2000.86131.2

2224.96171.0

2144.56124.4

9.360.7

43

8.960.8
8.360.7

52

Intervention non-risk

Sodium (mg/day)

Control

Intervention non-risk

Intervention risk

38

220.0631.9

43

Added sugars (%e/day)

Control

226.2635.1

50
40

Intervention risk

197.3633.6

183.5616.3

194.8617.8

181.4616.8

Mean SEM

Intervention non-risk

Vitamin C (mg/day)

46

Intervention risk

Caffeine (mg/day)

Baseline (n = 133)

0.31

0.51

0.54

0.99

0.96

0.85

0.92

0.82

42

26

62

42

51

37

42

39

49

42

43

45

82.26119.2

97.86145.6

143.06109.0

0.660.8

0.560.8

0.960.9

44.1637.1

13.9638.4

49.5637.6

7.3614.8

24.7615.3

3.0614.8

Mean change SEM

3-months (n = 130)
p-value` compared to
control group
n

Table 3. Changes in dietary intake after 3-months and 12-months.

0.97

0.20

0.99

0.18

0.22

0.99

0.66

0.61

41

26

56

41

49

33

41

37

45

41

41

41

p-value` compared to
control group
n

129.86118.2

244.26150.2

287.36114.1

0.460.8

0.460.8

0.460.9

21.4640.1

58.4643.5

36.6643.1

0.3617.8

1.5619.4

18.9618.8

Mean change SEM

12-months (n = 123)

0.11

0.008

0.85

0.98

0.42

0.73

0.99

0.92

p-value` compared to
control group

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Disclosure of Genetic Information and Change in Dietary Intake

their consumption of caffeine, sodium or added sugars, or

decreasing their intake of vitamin C. Although we did not report
a detrimental impact on dietary intake behavior as a result of
disclosing genetic information indicating no increased risk, proper
communication of genetic test results is needed to prevent
individuals from misunderstanding or misinterpreting the information and to guide them toward making appropriate lifestyle
changes where necessary [38]. As such, providing this type of
information through a qualified healthcare professional might be
more appropriate than providing such information direct-toconsumer. If the results of a genetic test require dietary
modification then a dietitian might be best suited to guide the
consumer whereas a genetic counselor would be better suited for
communicating results of tests for high penetrance genes that may
require a more severe intervention.
Another limitation of the present study is the use of a FFQ to
assess dietary intake, which is more useful in larger, populationbased studies, as it provides a measure of relative intake rather
than actual intake. However, the objective of the present study was
to assess change in dietary intakes, which is a relative measure of
intake. In addition, the sample size was small, yet comparable to
previous studies examining the impact of disclosing genetic
information on particular health behaviors [30,33,34], and
subjects were highly educated and recruited from a previous
nutrigenomics study. The reported reduction of nearly 300 mg of
sodium per day in the intervention risk group was not sufficient to
reduce the average sodium intake to the AI of 1500 mg/day,
which was the targeted recommendation provided in the dietary
report. Nevertheless, a recent Institute of Medicine report
concluded that there is no benefit to sharply restricting sodium
intake to the level of the AI [39] and a 2010 computer-simulated
model examining the effect of dietary salt reduction on future
cardiovascular disease projected that a 1 g/day reduction in
average population salt intake, which is equivalent to about
400 mg/day of sodium, would prevent up to 28,000 deaths from
any cause and would be more cost-effective than using medications to manage hypertension [40]. Therefore, the approximate
300 mg/day reduction in sodium intake reported in the present
study would be considered clinically relevant.
Strengths of the present study are the inclusion of a control
group, which provided a method of comparing the utility of DNAbased dietary advice to population-based recommendations, and

the randomized design, which minimizes the potential for

confounding effects. Including a 3- and 12-month follow-up
assessment enabled us to examine the short- and long-term effects
of the intervention. The finding that sodium intake was
significantly reduced compared to the control group after 12months among subjects in the intervention group with the risk
version of the ACE gene suggests that longer-term studies are
required to fully determine the impact of disclosing genetic
information. Moreover, conducting the present study so that it
closely resembles a consumer genetic test increases the validity of
the findings to reflect the real world effects among consumer
genetic test users. Early adopters of consumer genetic testing are
more likely to be highly educated and Caucasian, with a
substantial proportion of users between the ages of 1849 years
[15,28,41]. One study has reported a larger proportion of female
consumers [41]. As a result, the subjects in the present study are
representative of the early adopters of consumer genetic testing.
The present study was the first to empirically test the effect of
DNA-based personalized nutritional advice on dietary intake
behavior compared to population-based dietary advice. The
findings show that DNA-based dietary advice can impact dietary
intake to a greater extent than general population-based recommendations and provide supportive evidence for the clinical utility
of personalized nutrition to assist in chronic disease prevention.

Supporting Information
Checklist S1 CONSORT Checklist.

(DOC)
Protocol S1 Trial Protocol.

(DOCX)

Acknowledgments
The authors thank Alyssa Katzikowski, Maria Tassone, and Sarah Shih for
their assistance with subject recruitment and data collection.

Author Contributions
Conceived and designed the experiments: AE-S DEN. Performed the
experiments: DEN. Analyzed the data: DEN. Contributed reagents/
materials/analysis tools: AE-S. Wrote the paper: DEN AE-S.

References
9. Kolor K, Duquette D, Zlot A, Foland J, Anderson B, et al. (2012) Public
awareness and use of direct-to-consumer personal genomic tests from four state
population-based surveys, and implications for clinical and public health
practice. Genet Med 14: 860-867.
10. Kaput J (2008) Nutrigenomics research for personalized nutrition and medicine.
Curr Opin Biotechnol 19: 110120.
11. Nielsen DE, El-Sohemy A (2012) Applying genomics to nutrition and lifestyle
modification. Per Med 9: 739749.
12. Wesselius A, Zeegers MP (2013) Direct-to-consumer genetic testing. OA
Epidemiology. 1:4.
13. Nielsen DE, El-Sohemy A (2012) A randomized trial of genetic information for
personalized nutrition. Genes Nutr 7: 559-566.
14. Maher B (2011) Nature readers flirt with personal genomics. Nature 478: 19.
15. Kaufman DJ, Bollinger JM, Dvoskin RL, Scott JA (2012) Risky business: risk
perception and the use of medical services among customers of DTC personal
genetic testing. J Genet Couns 21: 413422.
16. Eny KM, Corey PN, El-Sohemy A (2009) Dopamine D2 receptor genotype
(C957T) and habitual consumption of sugars in a free-living population of men
and women. J Nutrigenet Nutrigenomics 2: 235242.
17. Cahill LE, Fontaine-Bisson B, El-Sohemy A (2009) Functional genetic variants of
glutathione S-transferase protect against serum ascorbic acid deficiency.
Am J Clin Nutr 90: 14111417.
18. Cornelis MC, El-Sohemy A, Kabagambe EK, Campos H (2006) Coffee,
CYP1A2 genotype, and risk of myocardial infarction. JAMA 295: 11351141.

1. Caulfield T, McGuire AL (2012) Direct-to-consumer genetic testing: perceptions, problems, and policy responses. Annu Rev Med 63: 2333.
2. McBride CM, Koehly LM, Sanderson SC, Kaphingst KA (2010) The behavioral
response to personalized genetic information: will genetic risk profiles motivate
individuals and families to choose more healthful behaviors? Annu Rev Public
Health 31: 89103.
3. Christensen KD, Green RC (2013) How could disclosing incidental information
from whole-genome sequencing affect patient behavior? Per Med 10: 377386.
4. Desroches S, Lapointe A, Ratte S, Gravel K, Legare F, et al. (2011)
Interventions to enhance adherence to dietary advice for preventing and
managing chronic diseases in adults: a study protocol. BMC Public Health 11:
111.
5. Leighton JW, Valverde K, Bernhardt BA (2011) The general publics
understanding and perception of direct-to-consumer genetic test results. Public
Health Genomics 15: 1121.
6. Cherkas LF, Harris JM, Levinson E, Spector TD, Prainsack B (2010) A survey of
UK public interest in internet-based personal genome testing. PLoS One 5:
e13473.
7. Goddard KA, Duquette D, Zlot A, Johnson J, Annis-Emeott A, et al. (2009)
Public awareness and use of direct-to-consumer genetic tests: results from 3 state
population-based surveys, 2006. Am J Public Health 99: 442445.
8. Stewart-Knox BJ, Bunting BP, Gilpin S, Parr HJ, Pinhao S, et al. (2009)
Attitudes toward genetic testing and personalised nutrition in a representative
sample of European consumers. Br J Nutr 101: 982989.

PLOS ONE | www.plosone.org

November 2014 | Volume 9 | Issue 11 | e112665

Disclosure of Genetic Information and Change in Dietary Intake

30. Grant RW, OBrien KE, Waxler JL, Vassy JL, Delahanty LM, et al. (2013)
Personalized genetic risk counseling to motivate diabetes prevention: a
randomized trial. Diabetes Care 36: 1319.
31. Bloss CS, Madlensky L, Schork NJ, Topol EJ (2011) Genomic information as a
behavioral health intervention: can it work? Per Med 8: 659667.
32. Marteau TM, French DP, Griffin SJ, Prevost AT, Sutton S, et al. (2010) Effects
of communicating DNA-based disease risk estimates on risk-reducing behaviours. Cochrane Database Syst Rev: CD007275.
33. Arkadianos I, Valdes AM, Marinos E, Florou A, Gill RD, et al. (2007) Improved
weight management using genetic information to personalize a calorie controlled
diet. Nutr J 6: 29.
34. Chao S, Roberts JS, Marteau TM, Silliman R, Cupples LA, et al. (2008) Health
behavior changes after genetic risk assessment for Alzheimer disease: The
REVEAL Study. Alzheimer Dis Assoc Disord 22: 9497.
35. Cornelis MC, Monda KL, Yu K, Paynter N, Azzato EM, et al. (2011) Genomewide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as
determinants of habitual caffeine consumption. PLoS Genet 7: e1002033.
36. Green ED, Guyer MS (2011) Charting a course for genomic medicine from base
pairs to bedside. Nature 470: 204213.
37. McBride CM, Bryan AD, Bray MS, Swan GE, Green ED (2012) Health
behavior change: can genomics improve behavioral adherence? Am J Public
Health 102: 401405.
38. Ferguson LR, Barnett MPG (2012) Research in nutrigenomics and potential
applications to practice. Nutrition Diet 69: 198202.
39. Institute of Medicine (2013) Sodium Intake in Populations: Assessment of
Evidence. Washington, DC: The National Academies Press.
40. Bibbins-Domingo K, Chertow GM, Coxson PG, Moran A, Lightwood JM, et al.
(2010) Projected effect of dietary salt reductions on future cardiovascular disease.
N Engl J Med 362: 590599.
41. Gollust SE, Gordon ES, Zayac C, Griffin G, Christman MF, et al. (2012)
Motivations and perceptions of early adopters of personalized genomics:
perspectives from research participants. Public Health Genomics 15: 2230.

19. Palatini P, Ceolotto G, Ragazzo F, Dorigatti F, Saladini F, et al. (2009) CYP1A2

genotype modifies the association between coffee intake and the risk of
hypertension. J Hypertens 27: 15941601.
20. Eny KM, Wolever TM, Corey PN, El-Sohemy A (2010) Genetic variation in
TAS1R2 (Ile191Val) is associated with consumption of sugars in overweight and
obese individuals in 2 distinct populations. Am J Clin Nutr 92: 15011510.
21. Giner V, Poch E, Bragulat E, Oriola J, Gonzalez D, et al. (2000) Reninangiotensin system genetic polymorphisms and salt sensitivity in essential
hypertension. Hypertension 35: 512517.
22. Poch E, Gonzalez D, Giner V, Bragulat E, Coca A, et al. (2001) Molecular basis
of salt sensitivity in human hypertension. Evaluation of renin-angiotensinaldosterone system gene polymorphisms. Hypertension 38: 12041209.
23. He J, Kelly TN, Zhao Q, Li H, Huang J, et al. (2013) Genome-wide association
study identifies 8 novel loci associated with blood pressure responses to
interventions in Han Chinese. Circ Cardiovasc Genet 6: 598607.
24. Hamza TH, Chen H, Hill-Burns EM, Rhodes SL, Montimurro J, et al. (2011)
Genome-wide gene-environment study identifies glutamate receptor GRIN2A as
a Parkinsons disease modifier gene via interaction with coffee. PLoS Genet 7:
e1002237.
25. Nawrot P, Jordan S, Eastwood J, Rotstein J, Hugenholtz A, et al. (2003) Effects
of caffeine on human health. Food Addit Contam 20: 130.
26. National Research Council (2006) Dietary Reference Intakes: The Essential
Guide to Nutrient Requirements. The National Academies Press: Washington,
DC.
27. Nishida C, Uauy R, Kumanyika S, Shetty P (2004) The joint WHO/FAO
expert consultation on diet, nutrition and the prevention of chronic diseases:
process, product and policy implications. Public Health Nutr 7: 245250.
28. Bloss CS, Schork NJ, Topol EJ (2011) Effect of direct-to-consumer genomewide
profiling to assess disease risk. N Engl J Med 364: 524534.
29. Collier R (2012) Predisposed to risk but not change. CMAJ 184: E407408.

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