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Personal genome testing in medical education: student experiences with genotyping in the classroom



Direct-to-consumer (DTC) personal genotyping services are beginning to be adoptedby educational institutions as pedagogical tools for learning about humangenetics. However, there is little known about student reactions to such testing.This study investigated student experiences and attitudes towards DTC personalgenome testing.


Individual interviews were conducted with students who chose to undergo personalgenotyping in the context of an elective genetics course. Ten medical and graduatestudents were interviewed before genotyping occurred, and at 2 weeks and 6 monthsafter receiving their genotype results. Qualitative analysis of interviewtranscripts assessed the expectations and experiences of students who underwentpersonal genotyping, how they interpreted and applied their results; how thetesting affected the quality of their learning during the course, and what weretheir perceived needs for support.


Students stated that personal genotyping enhanced their engagement with the coursecontent. Although students expressed skepticism over the clinical utility of sometest results, they expressed significant enthusiasm immediately after receivingtheir personal genetic analysis, and were particularly interested in results suchas drug response and carrier testing. However, few reported making behavioralchanges or following up on specific results through a healthcare provider.Students did not report utilizing genetic counseling, despite feeling stronglythat the 'general public' would need these services. In follow-up interviews,students exhibited poor recall on details of the consent and biobankingagreements, but expressed little regret over their decision to undergo genotyping.Students reported mining their raw genetic data, and conveyed a need for furtherconsultation support in their exploration of genetic variants.


Personal genotyping may improve students' self-reported motivation and engagementwith course material. However, consultative support that is different fromtraditional genetic counseling will be necessary to support students. Beforeincorporating personal genotyping into coursework, institutions should leadmulti-disciplinary discussion to anticipate issues and incorporate teachingmechanisms that engage the ethical, legal, and social implications of personalgenotyping, including addressing those found in this study, to go beyond what isoffered by commercial providers.


Direct-to-consumer (DTC) personal genomics companies provide public access toindividualized genetic testing outside the context of traditional healthcare systems.For a fee, consumers may submit a saliva specimen for analysis to obtain genetic riskinformation on a broad spectrum of health conditions and behavioral traits. Suchservices have prompted concerns that consumers will approach their physicians forassistance with interpretation and/or incorporation of individual results into theirhealthcare management [1, 2].Furthermore, owing to the declining costs of personal genomic testing, some hospitals inthe USA and other countries have begun to introduce genomic analysis to makepharmacogenetic testing available to patients [35]. However, physicians are oftenill equipped to interpret or utilize these genetic profiles, prompting calls to educatehealthcare providers on genome-wide association studies and on medical genetics moregenerally [610]. Consequently,several institutions have begun to consider, and in some cases offer, courses thatincorporate genomic testing of students as an innovative pedagogical approach toteaching human genetics [1114].

Although there is widespread agreement about the need for improved medical education ingenomic medicine, there are few models for creating effective mechanisms and contentwithin existing curricula to achieve these goals [1518].Recently, personal genotyping has gained attention as a way to increase medicalprofessionals' knowledge of emerging genetic technologies and scientific discovery, andto engender excitement and motivation among students as a way of encouraging them tolearn and engage with genetics [711, 19, 20].

In 2009, a medical school elective course was proposed at Stanford University to exposephysician-scientist trainees to the design, use, and interpretation of genetic studiesof human populations and diseases [14]. Thecourse, GENE 210 'Genomics and Personalized Medicine' aimed to educate students on theanalysis and interpretation of individual genome data as it relates to disease risk,pharmacogenomics, and human ancestry [21]. In aneffort to augment the learning environment, course instructors proposed that studentsshould have the option to use their own genotype data in classroom exercises. To reviewthis new approach, a multi-disciplinary task force consisting of faculty members ingenetics, genetic counseling, law, ethics, education, and clinical departments, convenedto discuss the proposal and to explore the risks of incorporating DTC personal genetictesting into the elective medical school course [14, 19]. Through this process, the university task forceidentified 8 potential ethical challenges and their possible solutions. As described inFigure 1, these issues were confidentiality, conflict of interest,risk of coercion, informational risks, informed decision-making, financialaccessibility, genetic counseling, and unknown issues due to the experimental nature ofthe new course [19]. The task force made severalrecommendations to address these concerns, such as offering the option for carefullysubsidized testing through two different companies (23andMe, Inc. or Navigenics),establishing a strict policy of anonymity, offering free genetic counseling, andobtaining approval for use of human subjects for the empirical study of the coursemethod [19]. These recommendations wereimplemented when the course was first offered during the summer quarter of 2010.

Figure 1
figure 1

Issues addressed by the university task force review.

The course at Stanford is now one of several across the USA that has incorporatedpersonal genotyping as a pedagogical tool in teaching human genetics, reflecting growinginterest in institutions for such approaches [711, 19, 20]. However,as yet, there have been no empirical studies of student experience with this method. Inthis study, we explored the perspectives of students who had undergone personalgenotyping in a course context, by conducting a series of individual interviews withstudents enrolled in GENE 210 before and after genotyping. Our specific researchquestions were as follows. 1) What are the expectations of students choosing to undergopersonal genotyping? 2) How do students interpret and apply their genetic results? 3)What do students understand to be their relationship with DTC genetic testing commercialproviders? 4) What type of support, if any, do students need?


Ethics approval

The research conformed to the Declaration of Helsinki's Ethical Principles forMedical Research Involving Human Subjects, and was approved by the StanfordInstitutional Review Board. Students gave written and oral informed consent toparticipate in the study.


We recruited study participants from the 46 students enrolled in GENE 210: 'Genomicsand Personalized Medicine' at Stanford University School of Medicine offered in thesummer of 2010 During the 8-week course,students analyzed whole-genome single nucleotide polymorphism (SNP) data, and weregiven a choice of using their own data or publicly available genotype data from 12HapMap participants.

To recruit participants, we distributed an email announcement that included detailsof the study to registered enrollees at the beginning of the course, and instructorsannounced information about the study in class. Enrollment in the study was limitedto students who elected to use the personal genotyping offered through the course,who were over the age of 18 years old, and who agreed to participate in open ended,in-depth individual interviews. The identities of student participants were keptconfidential. No instructors were involved in the enrollment of study participants,and the decision to participate was strictly voluntary and not linked in any way tostudent evaluations or grades in the course.


Students recruited for this study participated in three in-depth individualinterviews (with author SL), each lasting approximately 90 to 120 minutes. The firstinterview occurred before students received their genotyping results, followed by asecond interview 2 weeks after receiving their results, and a final interviewapproximately 6 months later.

Interviews included questions probing student perspectives on course expectations,understanding of informed consent, confidentiality of participant identity andgenotype data, interpretation and application of test results, experiences sharinggenotype data, and attitudes towards the pedagogical value of personalgenotyping.

Data analysis

Analysis of interview data was based on the principles of grounded theory, whichoffers systematic procedures that move from description to analysis, and enablestheories to be developed inductively. Analysis of interview data began with opencoding, using the qualitative software program MAXQDA (VERBI GmBH, Berlin, Germany).This inductive method examines phenomena within the interview text, and categorizesstatements through codes that are developed within a larger framework. In addition,selective coding of the data, focusing on categories and including behavioralchanges, informed consent, and personal utility, was analyzed for themes across thethree sets of interviews. Intra-coder and inter-coder reliability was maximized inseveral ways. Differences were reconciled to establish an initial coding scheme.Periodic joint coding of data ensured continued inter-coder reliability.Approximately 10% of the data were cross-coded (by author SL) and re-coded (authorSV) to ensure intra-coder consistency over time. Any coding differences encounteredwere discussed and reconciled through consultation with the research team.


Participant characteristics are described in Table 1; 50% werefemale and self-identified as Caucasian. Because GENE 210 was a graduate-level electivecourse, all participants were advanced students, with three participants enrolled inclinical programs (medical school or clinical fellowship) and seven enrolled inbiological sciences programs (graduate school or post-doctoral fellowship). Allparticipants chose the personal genotyping offered through 23andMe, Inc. Significantchanges in attitudes and reported reactions to genotyping experiences between theinitial interviews and those conducted 6 months later were minimal. The findingsreported here reflect the major themes that emerged from the three sets ofinterviews.

Table 1 Participant characteristics

Student perspectives on the pedagogical value of genotyping

Students overwhelmingly felt that using their own genotype data in the context of thecourse was personally motivating in learning the course material. This sentiment wasexpressed throughout the three sets of interviews. One graduate student reflected onhis experience by emphasizing the value of testing as a pedagogical tool.

'I think people will be more motivated to do a lot of exercises in classwith their own data and therefore, once we got our own data, a lot of people wereexcited about it and were happy to use their own data for the other exercises. And Ieven went back and redid some of the old stuff, based on my data. So I think therewas definitely a benefit... I don't think there's anything specific that would makethe education less valuable by using the dummy datasets they provided. I thinkthere's a more personal edge to it when you're using your own data, so there's moremotivation to learn about it.'

Moreover, students training in medicine felt that their testing experience providedthem with valuable insight into what patients who elect to undergo personal genetictesting might experience when they see their test results. One medical studentreflected this by stating,

'I think that getting personally genotyped is really important because itis easy to tell anyone, 'oh, yeah, you should get genotyped!' But if you haven't gonethrough it - the personal feelings, emotions, and thought process behind it - I feellike it's hard to tell someone else to do it. It's hard as a medical doctor. How canyou recommend that to your patients if you haven't actually thought about it, becauseit's such an emotional, personal thing. So I think it's really important to take thiscourse.'

Students emphasized that personal genotyping promoted their engagement with thecourse material. Students described the benefit of reflecting on the social, ethical,and policy implications of genetic testing presented in lectures and classdiscussions during the course. Participants reported thinking more deeply about therisks and benefits related to testing as a result of their experience in the class.For example, issues of privacy and anonymity of genotype data were discussed byseveral students.

'We discussed this in class - that this is a privacy issue and thatnothing is more unique than your genotype. It's your fingerprint. There are peopleout there right now who are saying that they can figure out where people are from,within a hundred kilometers, based on their genotype, based on just 550,000 SNPs. AndI think that's concerning about genotyping data.'

They also described having a greater understanding of the social issues related totesting patients than the general population, articulating the potential value ofpersonal experience with genotyping in bridging the gap between healthcare providersand patients.

Student attitudes towards clinical utility and application of genotypingresults

Despite the strong views of participants that self-testing promoted enhanced learningof course material, most students expressed skepticism over the clinical utility oftheir results related to risk prediction for complex diseases (for example, heartdisease, cancer, diabetes) and were dismissive of results related to behavioraltraits, such as cognitive ability and athleticism. Conversely, participants did statethat genetic results related to drug response and to carrier traits offered morevalue. For example, every participant identified drug-response information, such assensitivity to warfarin, as potentially useful, and noted the practical personalutility of carrier testing. During her interview 2 weeks after receiving her testresults, one graduate student described the potential actionability of learning sheis a carrier for a monogenic disease:

'Knowing that I'm a carrier for this is something... it makes things mucheasier to deal with, because you can actually do something. It's real easy to gettested for it, and you can actually take corrective steps if you want to. You can getyour partner tested, you can do IVF if you're really worried about it...'

When asked if the participant would ask her partner to be tested for the conditionfor which she was found to be a carrier, she answered that her partner was planningto be tested. When asked about the partner's decision in the follow-up interview 6months later, the participant said that her partner had not yet been tested,explaining,

'He's probably going to get tested for it. I am not sure when. It seemedlike a big deal for us when I first got my results but, honestly, we haven't thoughtmuch about it lately. I guess you could say it fell down on the list of things todo.'

Carrier-testing results were received with great interest, more so than other testresults returned to participants, and in several cases, participants reported thatthe test results triggered conversations between participants and their partnersabout the meaning of results for reproductive decisions. However, in the 6-monthfollow-up interviews, there was little indication that carrier or pharmacogenetictesting prompted specific actions for participants. Given that students were nottaking the relevant drugs or making imminent family-planning decisions at the time ofthe study, it is unclear whether the 6-month time frame of the study was sufficientto determine whether testing information would eventually prompt behavioral changesor health management decisions.

Students did report intentions to make modest behavioral changes as a result of riskpredictions of complex diseases and conditions. For example, 2 weeks after receivingtheir results, students reported plans to improve their diet, exercise moreregularly, and wear sunglasses when outside. In one case, a student said she intendedto consume dairy products more conscientiously in light of test results thatindicated a high likelihood of lactose intolerance, in order to stave off developingthe condition. However, with the exception of this last example, students did notreport making significant progress on these intentions in interviews 6 months afterreceiving their genotype results.

Student perspectives on consultative support

Although all students were given the option of consulting independentgenetic-counseling services before and after testing at no additional charge,utilization of these services was very low. Participants felt that they were wellequipped to interpret their test results on their own; consequently, only one studentparticipant expressed any interest in this offering. By contrast, participants on thewhole felt strongly that genetic-counseling services would be important for thegeneral public. One participant explained,

'Because I am a student in biosciences, I feel like I can interpret thedata myself, and so in that sense I would personally resent having to go through adoctor to get my genome information. But, maybe I'm being a little paternalistic inthat I think for the general public, they should go through their doctors to getinformation like this.'

Although only one participant had specific training in clinical genetics, none of theparticipants felt that genetic-counseling services should be required of studentsenrolled in the course.

Most of the study participants reported that they had used or planned to use thebioinformatics tools presented in the course to browse their genome for results notreturned by their DTC personal genomics provider. Most commonly, students had usedtheir raw data to assess their relative risk for conditions known in their familyhistory, but all participants also mentioned mining their data for a broad range ofreported variants, using outside sources, such as SNPedia For example, although at thetime, 23andMe Inc. did not offer analysis of the apolipoprotein E (APOE) locus, whichis associated with the onset of Alzheimer's disease, nearly all of the participantshad already searched for or planned to check their likely APOE status using their rawdata.

Several participants said that they needed more individualized help analyzing theirraw dataset when mining it for additional information. Their questions focused ontechnical questions about the mining process itself, and only secondarily about theclinical utility of a particular finding. One participant suggested that the ethicalguidelines established to ensure confidentiality in the course impeded the students'ability to get the help they needed. He explained,

'I think there were issues with the course that could be improved. Forexample, one of the issues was we weren't supposed to tell any instructors that wegot genotyped. So, this actually was, in some ways, really hobbling, because if youhad a specific question about how to analyze data, because of a certain populationstructure you were observing, but you couldn't... So, because of the way the classwas structured to provide complete anonymity, it basically meant that the class wasnot a resource for your personal genomics information.'

Several students who were eager to apply the bioinformatics tools they had learned inthe course on their own data felt stymied by the inability to discuss their personalresults with instructors who might help them with their analyses.

Student experiences of informed consent

When participants were asked about the details of the consent form provided online bythe genetic testing services, none of the participants could accurately recall thedetails of the agreement. Nor could any of the participants fully describe theconditions of biobanking, an option offered by 23andMe, Inc. to store genetic sampleswith the company for further study, including company-sponsored research. All but twoparticipants elected for their samples to be biobanked. However, none of theseindividuals could accurately describe how long samples would be stored; what, if any,personal information would be stored with samples; and whether they had the option ofwithdrawing their samples once enrolled. One participant answered,

'... you know, I didn't read all the legal stuff about it... I guess itwas... the general understanding was that they... they use it, you know, they...Honestly, I'm not sure... my name isn't necessarily tied to the studies that they'lluse. I'm sure they have some information I'm associated with, but... um, and that itwould be used for their private research of some kind... I don't know what that allinvolves, I guess (chuckles)'

Most students admitted to not reading all the legal terms and conditions regardingthe 23andMe Inc. biobanking program, and were unsure of how their personalinformation or genetic data might be used by the company for research purposes.Although participants could not describe the content of the consent and biobankingagreements well, none of the participants expressed concern over their lack ofrecall. All participants stated that, given the opportunity, they would have chosenself-testing as part of the course again, expressing few regrets over theirdecisions.


The advancing pace of genetic discovery has created a widening gap in medical education.To promote genetic literacy among students, several institutions are incorporatingpersonal genotyping in the classroom [711, 19]. We report here one of the firststudies of student experiences with genotyping used as a pedagogical tool to teach humangenetics. This study was limited to the perspectives of those students who elected touse genotyping and who had advanced training in medicine and various scientific fields(although little, if any, training in clinical genetics). Results from the pre-testingand post-testing interviews with study participants suggest that students perceivedpositive benefits from using their own genetic data. Participants described using theirown genetic data in the classroom as personally motivating, and felt it provided insightinto the patient experience. Participants valued the faculty-led discussion of theethical and legal issues related to personal genetic testing, and stated that theseallowed them to consider dimensions to their decision that they had not identified priorto the course. Our findings also indicate that the careful consideration by theuniversity task force of how the course should be executed resulted in measures beingput in place that mitigated potential problems. For example, participants specificallycited that setting the price of the testing at $99 forced participants to carefullyconsider their decision in ways that a completely free test might not.

The study results also indicate a need for new models of consultative support forstudents who undergo self-testing. Our study findings indicate an underutilization ofgenetic-counseling services. Although few studies have examined consumer decisions toseek genetic counseling, this result is consistent with a survey based study conductedby Kaufman et al., [22] in which a mere1% of participants sought out genetic counseling when interpreting their results[23]. Our study result may be explained inpart by the biased perception of the students undergoing personal genotyping that,unlike the general population, they possessed sufficient knowledge to interpret theirresults. However, more research is needed to determine whether such sentiments areevident among other DTC personal genomics clientele.

Consistent with the few empirical studies that have examined the behavioral responses ofconsumers of DTC genetic testing services, our study results provide little evidence tosuggest that the mere provision of genetic information alone results in widespreadchanges in health behaviors [2, 23]. Although students did report their intention to make modestbehavioral changes as a result of risk predictions of complex diseases and conditionsshortly after receiving their results, none had made any clinical changes or pursuedfollow-up care with healthcare providers 6 months later.

The finding that many of our participants placed a high value on carrier-testinginformation and their relevance for reproductive decision-making suggests the need toattend to the specific concerns of student populations when genotyping is offered incoursework. Although our participants took little, if any, action based on theircarrier-testing results, the age range of the study participants coincided with the ageat which many students may be concerned with reproductive decisions but may not becompelled to act on these within the 6-month period of the study, and are too young andrelatively healthy to be motivated about other health risks. Careful consideration mustbe given as to how to best support students in interpreting these results, as previousstudies indicate that carrier-testing results significantly affect future reproductivedecision-making, and individuals may have difficulty understanding risk prediction,owing to a lack of understanding of the potential for false-negative results[2427]. The potential for misinterpretationand the low probability that students will access counseling on a voluntary basis pointto the need for new models for clinical consultation and clear institutional policiesregarding counseling of student populations in the context of coursework.

Our results also indicate that students may need new models for technical consultationwith instructors or other experts who could answer questions about the application ofbioinformatics tools to personal genetic data. Students felt that confidentialityguidelines prohibited instructors from discussing and clarifying individual results.Their desire for more individualized attention reflects a tendency by students toconflate the aim of using personal genotyping in coursework to learn general concepts inhuman genetics with an opportunity to interpret their own personal genotype data.Recognizing the student inclination to mine their personal genome, this study indicatesa potential need for technical consultants who are not responsible for courseworkevaluations and who could offer confidential expertise to students who choose to use theknowledge they learned in the course to analyze their own data. Given the wideavailability of web-based tools and platforms, it is reasonable to expect that studentswill probe their raw data for information on variants beyond what is given to them by aparticular testing service. Harris et al. [28] have identified the expanding role of genetic counseling in thecontext of DTC genetic testing and the broad range of skills and knowledge domainsnecessary to assist consumers with their engagement with genotyping results[22]. Focusing solely on providingtraditional genetic counseling fails to consider the spectrum of issues that may provokequestions by student participants.

Our study results reveal that student had a limited recollection and understanding ofthe consent and biobanking agreements, pointing to the benefits of legal and ethicalconsultants who can act as resources to students unfamiliar with reviewing thesedocuments. Although the informed consent processes in the personal genome-testingindustry are shifting [29], clear identificationof when customers are merely consumers and when they become research participantsremains murky. It is imperative that institutions provide support to students on how tointerpret the conditions of their purchase of personal genome-testing services and howto manage the potential longer-term relationship they may have with these companies evenafter they complete the course and graduate from their programs. A multi-disciplinaryapproach to consultation services should be sufficiently flexible to address studentneeds as the landscape of services and quality of information evolves.


As academic institutions partner with DTC personal genotyping services to create newcurricula, careful consideration of student needs and of the support services madeavailable to them is crucial. The experiences and perspectives of students who have beengenotyped in the classroom setting should guide educators as they build models forincorporating personal genotyping into medical and graduate curricula. Studentperspectives indicate a need for improvements to achieve a more nuanced treatment of thepedagogical needs of the student population in question. In planning a new curriculum, amulti-disciplinary approach, as taken by Stanford University's task force, would help toanticipate the range of topics, including technical, clinical, social and ethicalissues, incumbent in offering or encouraging genotyping in a course context. Building onthis model, the inclusion of students and/or community members who have experiencedgenotyping would provide added perspectives in anticipating the emerging needs ofstudent populations. Ongoing, innovative multi-disciplinary consultation support wouldallow students the opportunity to take full advantage of the learning experience byconfirming appropriate use of the tools and receiving individualized attention whenconfronted with the practical and analytical challenges of interpreting the humangenome. These lessons provide a framework for the development of a model for whenpersonal genetic testing is introduced in the classroom while minimizing associatedrisks to students and beginning the important work of creating best practices. Furtherresearch into the experiences of students who are offered genotyping in diverseeducational settings and levels is needed to equip institutional policies.

Authors' information

Simone Vernez was the Research Project Manager of the NHGRI-funded R01 grant project,'Social Networking and Personal Genomics: Emerging Issues for Health Research' at theStanford Center for Biomedical Ethics. She now attends the University of California atIrvine School of Medicine.

Keyan Salari, M.D., Ph.D., is a surgical resident at the Massachusetts General Hospitaland Harvard Medical School. He was an M.D./Ph.D. student in the Department of Geneticsand the School of Medicine at Stanford University.

Kelly Ormond, M.S., C.G.C., is an Associate Professor and Program Director of the MS inHuman Genetics and Genetic Counseling in the Department of Genetics at StanfordUniversity.

Sandra Soo-Jin Lee, Ph.D. is a Senior Research Scholar and a medical anthropologist atthe Stanford Center for Biomedical Ethics and faculty in the Program in Science,Technology and Society at Stanford University. She is principal investigator (PI) of theNHGRI-funded R01 grant project, 'Social Networking and Personal Genomics: EmergingIssues for Health Research.





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Funding for this work was provided by NIH 1R01HG005086-01 (PI: SL) and P50 HG003389(PI: MC). We thank Emily Borgelt, M.A. for her generous assistance in the preparationand editing of this manuscript.

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Correspondence to Sandra Soo-Jin Lee.

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The authors declare that they have no competing interests.

Authors' contributions

SL conceived of the study and carried out all the interviews. SL and SV coded andanalyzed the data and drafted the manuscript. KS and KO reviewed and provided commentsand edits to the manuscript. All authors read and approved the final manuscript.

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Vernez, S.L., Salari, K., Ormond, K.E. et al. Personal genome testing in medical education: student experiences with genotyping in the classroom. Genome Med 5, 24 (2013).

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