Personal genotypes are teachable moments

There is an urgent need for effective genomics education for healthcare professionals. Recent analysis of an experimental genomics curriculum showed that medical students' examinations of their own genotypes provide a valuable learning experience. Such experiential learning has a long tradition in medical education and its application to genomics is enabled by increasingly powerful and decreasingly costly genome science and technology. Personal genotyping is an important option to consider when designing educational programs for healthcare professionals.

Rapid changes in technology and cultural behavior are challenging the traditional role of healthcare profes sionals as 'learned intermediaries' who are responsible for interpreting and translating medical information for patients and the general public [1]. Advances in genomic science and technology are rapidly outpacing the diff u sion of this information through the traditional channels of medical education and training [2], a phenomenon that is becoming increasingly apparent even to consu mers [3]. Furthermore, studies have repeatedly shown that online sources and social networks have become the primary or even sole sources of health information for patients and their friends and families; healthcare professionals are consulted later, if at all [1].
Directtoconsumer (DTC) genotyping services have contributed to this disintermediation of physicians and other healthcare professionals [1]. Moreover, the emer gence of 'empowered patients' practicing 'participatory medicine' [4] has eroded professional hegemony and created signifi cant challenges, but also new opportunities, for physicians. In addition, the impact of role models in popular culture who are utilizing DNA technologies to address a variety of health issues [5] has interjected another powerful cultural variable into patientphysician dynamics.
To meet some of these challenges, two initiatives were launched in 2009 aimed at medical and graduate students [2] and postgraduate medical trainees [6]. Both of these programs off ered voluntary participation in personal geno typing as a pedagogical enhancement to curricula. Th e article by Vernez et al. [2] in this issue of Genome Medicine reports on student experiences in a pre doctoral elective course, GENE 210, on 'Genomics and Personalized Medicine' provided at Stanford University School of Medicine. Here, we consider the content of the course, its foundation in learning theory, student observations and experiences, and some unexpected fi ndings about consultative support in programs of this type.

Genomics is not genetics and DNA is not destiny
Traditional medical genetics has a specifi c focus and target population, being primarily the study of inheri tance, and is most typically applied to reproductive health issues and pediatriconset disorders. Genomics is more focused on risk mitigation or on the management of complex, multifactorial diseases, assessing prognosis or individualizing therapies, particularly in adults.
Th ere are two distinct categories of medical genomics [7], a fact that is not often obvious and frequently leads to confusion and comingling of medical uses and their ethical, legal and social implications (ELSI). Th e fi rst cate gory encompasses presymptomatic genotyping for disease risk assessment using the results of genomewide asso ciation studies (GWAS). In GWAS, variations (poly morphisms) within the genomic DNA nucleotide sequen ces of individuals are studied for their statistical asso ciations with various diseases or disease traits. An individual's genotype with respect to these single nucleo tide polymorphisms (SNPs) can indicate an increased probability of being aff ected by, or developing, a certain disease or medical condition. Th ese probabilistic asso ciations are typically rather weak and the contributions of

Abstract
There is an urgent need for eff ective genomics education for healthcare professionals. Recent analysis of an experimental genomics curriculum showed that medical students' examinations of their own genotypes provide a valuable learning experience. Such experiential learning has a long tradition in medical education and its application to genomics is enabled by increasingly powerful and decreasingly costly genome science and technology. Personal genotyping is an important option to consider when designing educational programs for healthcare professionals.
these genetic variations to disease are often greatly over shadowed by environmental (lifestyle) factors that contri bute more significantly to increasing the risk of diseases such as lung cancer or type II diabetes. This type of SNP genotyping data was made available to predoctoral students at Stanford [2] and postdoctoral pathology trainees [6] at Beth Israel Deaconess Medical Center, a teaching hospital of Harvard Medical School.
The second category of medical genomics data results from postdiagnostic genotyping for the purposes of prognostication and/or individualized therapy [8]. For example, information on the genotypes of relevant drug metabolizing enzymes might be used to plan persona lized dose regimens for anticoagulants, whereas genomic 'subtyping' of cancers might be used to assess prognosis or to select a genotypetargeted anticancer drug.

Experiential learning, clinical utility and consultative support
Experiential learning ('see one, do one, teach one') has a long and very useful tradition in medical education. When medical students are learning how to do physical examinations, for example, they often practice skills like auscultation on fellow students. Likewise, testing to deter mine a student's own blood type is another commonly used pedagogical technique for preclinical medical education.
Conceptually, blood typing differs from genotyping in technology and scope. Blood typing is a phenotypic test (based on antibodyantigen interaction) that allows the inference of genotypes (of the DNA sequences that encode the ABO bloodgroup proteins). By contrast, SNP genotyping measures DNA sequences directly and on a vastly larger scale (millions of geneassociated DNA variations). Genotypes allow the prediction of pheno types such as the ability to metabolize certain drugs and the susceptibility to certain diseases.
According to experts in medical curriculum develop ment [9], 'reflection on … new experiences built into the curriculum is a key component of experiential learning' . In this formulation, personal genotyping by Stanford students was the new experience and the fact that they were using their own DNA and genotype data triggered deeper and more sustained reflection on and increased motivation to learn the course material. Thus, students' personal genotyping amounts to an engineered teachable moment [10] (Figure 1) that is based on a direct, personal life experience that students concluded would help them better relate to future patients who might undergo a similar test [2].
The Stanford students were skeptical and even dis missive of genotyping results related to their risk predic tion for complex disease and cognitivebehavioral abilities [2]. In our view, this reaction was appropriate given the state of the science and the generally weak, probabilistic nature of most GWAS associations. Results pertaining to drug metabolism and reproductive issues (that is, carrier testing) were considered more relevant and valuable, although not imminently important to the healthy, young individuals in this cohort. Because the Stanford course focused on presymptomatic genotyping for disease risk assessment, it precluded full coverage of more medically 'actionable' genotyping for acute, post diagnostic applications, such as cancer prognosis and tumor subtyping for targeted therapy.
Although genetic counseling services were designed as an essential, supportive component of the Stanford course, few students availed themselves of consultations and none felt that such counseling should be required of students enrolled in the class [2]. The students believed that, because they were health professionalsintraining, they possessed the background and skills to interpret the results properly. Many were motivated and interested to use bioinformatics tools to reinterpret their raw data, although some felt the need for more individualized assistance and consultative support for this analytic 'data mining' activity [2].
One area of education that seemed curiously lacking in the experience provided to students was an under stand ing of the consultative support role of clinical laboratory professionals and the regulated environments in which they operate. The course designers seem to have taken for granted the integrity of sample tracking, analytic validity of the genotyping assays and the accuracy of the results, despite wellpublicized errors that have been made by some commercial laboratories. Pathologists are the physiciancustodians of laboratory testing and important consultants on diagnostic tests that determine significant Figure 1. Teachable moments are distinguished by a cueing event (also called a triggering or sentinel event) that increases perception of risk, elicits an emotional response, and/or represents a life experience that changes an individual's self-concept or one of their social roles [10]. In the case of the Stanford GENE 210 curriculum, the cueing event was the experience of personal genotyping. The students who were surveyed overwhelmingly felt that having their personal data motivated them to acquire new knowledge (the course material) and skills (in bioinformatics) [2]. Students also expressed intentions to make modest behavioral changes [2]. Figure adapted with permission from [5].  [7]. We suggest that, for future programs, these specialists in the conduct and interpre tation of clinical laboratory tests should be included as members of multidisciplinary curriculum development and delivery teams.

Conclusions
The work of Vernez et al. [2] provides evidence of the benefits of personal genotyping as a pedagogical tool for teaching medical genomics. This experiential education approach is grounded in wellestablished learning theory and practice and, despite potential ELSI issues [2], can be conducted in a manner that minimizes risk. More work is needed in the future to develop broader and more nuanced course content and to refine consultative support.