PERSPECTIVES SCIENCE AND SOCIETY

Teaching resources for genetics Susanne B. Haga

Abstract | Genetics education is essential for preparing the public to engage in an informed debate about the future of genetics research and how its applications affect human health and the environment. This article provides an overview of genetics education resources that are available online, and is relevant to students in secondary education, health professionals, geneticists and the public. It also describes an integrated approach to teaching genetics, emphasizes the need for continuing teacher education, and encourages the involvement of geneticists and health professionals in providing a teaching resource. Over the past several decades, the field of genetics has grown enormously, both in terms of the breadth of knowledge accumulated and the technologies developed. An enhanced understanding of genetics by the public and by teachers and health professionals will not only improve the dialogue about these new tools and technologies, but will also help to prepare the next generation of scientists and ensure the appropriate use of genetic applications in medicine. Given the importance of genetics to society, it is unsettling that knowledge about this subject is lacking. Several surveys, focus groups and formal assessments have documented low levels of understanding of genetics vocabulary and concepts among the public, despite the generally high support for genetics research and testing. For example, although those surveyed might be unable to distinguish between genes, chromosomes and DNA1–3, most respondents were very interested or supportive of genetic testing and its effect on future health4–7. Similarly, a recent report also found low levels of knowledge about gene therapy but positive attitudes towards the application of gene therapy to treating serious diseases and towards progress in gene-therapy research8. Genetics knowledge in school-aged children is also low. In 2000, the National Assessment of Educational Progress (NAEP) administered the science assessment to approximately 49,000 US students at

grades 4 (aged 9 to 10), 8 (aged 13 to 14) and 12 (aged 17 to 18). On average, ~30% of twelfth graders could completely or partially answer genetics-related questions correctly, whereas almost 70% could provide completely or partially correct answers about the transmission of AIDS9. The scores of the next NAEP science assessment will be released in 2006 and it will be interesting to compare them with the results from 2000, given the growth in genetics research and its applications that has occurred in the intervening period.

A wealth of online resources is available and is continually expanding to meet the needs for genetic information for education, personal knowledge or medical practice. Primary-care practitioners will be an important resource for genetics information as it relates to health and medicine. Despite the fact that almost all physicians are exposed to genetics coursework early in their training, several studies that assessed the genetics knowledge of physicians have found mixed results10–13. In general, physicians in disciplines where genetics has long been a part of regular practice, such as obstetrics and paediatrics, and those who were trained more recently,

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had a higher level of knowledge about genetics. The genetics content that teachers, health professionals and the public learned in the classroom is likely to be outdated given the rapidly changing knowledge base in genetics. A wealth of online resources is available and is continually expanding to meet the needs for genetic information for education, personal knowledge or medical practice. It is timely to identify sites that offer accurate and useful tools and information that are regularly updated to reflect current knowledge. The first half of this article describes some useful resources that have been developed primarily for teachers and classroom education. The second half of the article discusses other factors that are crucial to genetics education. These include a continuing education for teachers and the recommendation to adopt an interdisciplinary approach to teaching a subject, such as genetics, that cuts across many areas. Genetics resources Several private and public laboratories and institutes, and government and university web sites provide a range of information, lesson plans and activities for students and teachers, the general public, and health professionals. The following sections describe several of these resources, which are organized by topic and target audience. The web addresses of these sites can be found in the Further information; further resources are provided in TABLE 1. The examples described below and listed in TABLE 1 are not an exhaustive list but aim to be representative of groups that are dedicated to advancing genetics education. The resources were selected on the basis of several criteria: the inclusion of education as the mission or goal of the organization or group concerned; the presentation of original content or activities; the presence of periodically updated or revised information; use of the English language; and accessibility of resources, which should be provided online free of charge. The sites were identified through reviews of listings of educational resources provided by groups such as the American Society of Human

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PERSPECTIVES Table 1 | Further online genetics education resources

Resource

Target audience

Content

URL

GeneChip Microarrays: teaching curriculum (Affymetrix)

Educators

Slide presentations and graphics; curricula are linked to high-school standards

http://www.affymetrix.com/ corporate/outreach/lesson_plan/ index.affx

Genetic Alliance

General public, patients and their families

General genetics resources, disease-specific information, advocacy organizations

http://www.geneticalliance.org

Genetics Information and Education (Genetic Interest Group)

General public, patients, teachers, students

General overviews, disease-specific information, cross-curricular activities

http://www.gig.org.uk/education. htm

Public Information Centre (London IDEAS)

General public, health professionals, patients, children

Leaflets on general genetic concepts and genetic conditions, case studies, interactive games

http://www.londonideas.org/ internet/public/index.html

Genome: The Secret of How Life Works (Pfizer Inc.)

General public, educators

Genetics timeline, teachers’ activity guide and lesson plans

http://genome.pfizer.com

The Human Genome (The Wellcome Trust)

General public

General genetics, disease overviews, interactive presentations

http://www.wellcome.ac.uk/en/ genome/index.html

Genetics Through a Primary Care Lens (University of Washington, Seattle)

Health professional educators

Basic genetics information and case studies to facilitate teaching about genetics in primary-care settings

http://www.genetictools.org

US Department of Energy

General public, educators

Information about the Human Genome Project, graphics and information about medical applications, microbial genetics, and ethical, legal and social implications

http://doegenomes.org

US National Human Genome Research Institute

General public, educators

Genetics modules, fact sheets, multimedia glossary

http://www.genome.gov/Education

Genetics, the US National Human Genome Research Institute (NHGRI) and the UK Medical Research Council, search engine queries, and resources previously known to the author. No formal evaluation assessment was carried out to measure accuracy or effectiveness of these online resources. Basic genetics. Founded in 1988, the Dolan DNA Learning Center (DNALC) is a pioneer in the development of classroom DNA experiments and is the largest provider of student laboratory instruction in molecular genetics. DNALC is an operating unit of the Cold Spring Harbour Laboratory (CSHL) — a large research institute that is focused on the genetic basis of cancer and brain function. The DNALC was created to extend the education mission of the CSHL to university, pre-university and public audiences. In addition to hosting more than 145,000 pre-university students through class fieldtrips to DNALC to carry out hands-on experiments, the centre also holds week-long genetics summer camps for students from middle school to high school. The Biomedia Group was formed in 1997 to take advantage of the resident expertise of the DNALC in genetics education and has become one of the largest providers of multimedia learning materials for biology education. The Internet portal of the DNALC, Gene Almanac, and its eight related sites

provide a wealth of information that ranges from basic genetics to human evolution to cancer genetics to bioinformatics (FIG. 1). In addition, the interactive design of the site allows teachers to create lesson plans and personal web pages from online activities, videos, animations and text. The Genetic Science Learning Center at the University of Utah is dedicated to developing teacher resources and lesson plans in genetics. Several interactive, ‘print-and-go’ and laboratory activities are available, including ‘Basics and Beyond’, ‘Introduction to Heredity’, ‘Pharmacogenomics’ and ‘Genetic Disorder Corner’. Keywords, target grade levels and corresponding US state and national standards are listed for each activity. The Biological Sciences Curriculum Study (BSCS) has developed modules on genetics such as The Puzzle of Inheritance: Genetics and the Methods of Science. This module includes an overview for teachers, a glossary and six classroom activities that are appropriate for high-school or introductory university courses. The Office of Science Education at the US National Institutes of Health, in collaboration with BSCS, the NHGRI and Videodiscovery, developed a curriculum supplement, Human Genetic Variation, that is targeted at US grades 9 to 12. Outside the United States, the Genetics Education and Health Research Unit of

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the Murdoch Children’s Research Institute (MCRI) has developed several resources for different groups, including school-based activities that explore a range of topics on the science and application of human genetics. In particular, a series of activities called ‘Harry Potter — The Magic of Genetics’ introduces students to basic genetic concepts. The GeneCRC has also developed several resources, including a kids-only page with ‘gene games’ and illustrated story-like descriptions of basic genetics concepts. (Note that the GeneCRC is no longer active; however, many of the activities continue to be carried out by collaborating organizations at the MCRI and elsewhere.) Several companies that conduct genetics research provide educational resources to promote greater knowledge about basic genetics. GlaxoSmithKline provides an interactive, web-based resource that is targeted at students aged 11 to 16 and is called People and Medicine. The resource includes units on DNA, genetics research and pharmacogenetics, and inheritance and genetic diseases. Kids Genetics offers games and short educational videos about genes, chromosomes and diseases for children aged 8 to 12 years old, whereas Active Science provides 13 interactive modules, worksheets, downloadable files and databases for students aged 5 to 16 and older. In particular, the Selective Breeding and Genetic Engineering

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PERSPECTIVES

Figure 1 | Online genetics education resources. The image shows screen shots of web sites developed by the Dolan DNA Learning Center. These include DNA interactive; Your Genes, Your Health; Genetic

module covers topics such as chromosomes, genes, cell division, evolution and genetic engineering. The modules were developed to correlate specifically to the National Curriculum of England and Wales. Medical and health applications. Many resources are specifically devoted to the medical and health applications of genetic testing, genetic diagnosis, genetic counselling, and genetic support groups. Many of these sites are extremely informative for teaching about genetic diseases and genetic testing, and for updating health professionals about the appropriate use of genetic applications. For example, the Centre for Genetics Education in Sydney, Australia, provides timely information to individuals and families who are affected by a genetic condition. The National Genetics Education and Development Centre, UK, hosts seminars and conferences on genetics education and provides information about the genetic courses available throughout the United Kingdom that are targeted at different medical specialties . The US National Coalition for Health Professional Education in Genetics (NCHPEG) has developed core competencies in genetics for health-care providers and provides several resources that are related to family history and the genetic basis of disease. NCHPEG also maintains a search engine called Genetic Resources on the Web that provides health professionals and the public with high-quality information that is related to human genetics, with a particular focus on genetic medicine and health. The US National Library of Medicine has developed

Origins; and DNA From The Beginning. Reproduced with permission from the Dolan DNA Learning Center web site © (2002) Cold Spring Harbor Laboratory.

a Genetics Home Reference resource about basic genetics and inheritance, genetic conditions, and the specific genes or chromosomes that are linked to those conditions. Several databases provide excellent resources about specific genetic diseases and genetic testing. The GeneTests web site maintains a directory of laboratories that offer clinical or research genetic testing around the world, and more than 300 reviews that have been written by experts about many of the genetic conditions for which testing is available. The Online Mendelian Inheritance in Man (OMIM) site provides both a scientific and clinical overview of genetic diseases; is an excellent resource that can be searched by gene or disease; and contains links to related resources, such as MEDLINE, a searchable repository of bibliographical information. Teaching aids Although many of the sites listed above contain lesson plans, glossaries and online activities to supplement textbooks and teacher knowledge, further resources are available to help teachers customize lesson plans, answer questions and develop laboratory activities. Some of these teaching aids are highlighted below.

Scientists and health professionals. In addition to serving as a great knowledge resource both for teachers and students, scientists and health professionals can provide experience and guidance with laboratory experiments, lead discussions about ethical, legal and social implications in genetics and genomics, and promote careers in

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genetics or provide insight about the life of a scientist14. However, the use of scientists and health professionals as an educational resource is probably under-exploited by the educational system, perhaps because of the absence of a liaison between professional scientists and teachers, or because of scientists’ lack of knowledge about how to become involved. The US National Academy of Sciences and the National Research Council have recognized these barriers and have established a programme to help scientists learn how to become involved in science education. Resources for Involving Scientists in Education provides information and resources for scientists who are interested in contributing to science education in their community through workshops, publications and outreach activities. Partnerships between scientists and health professionals and teachers and school systems are probably the most effective approach to advancing genomics education14. A model programme for partnerships between scientists and teachers is the Science & Health Education Partnership. Founded in 1987, this partnership is a collaboration between the University of California, San Francisco, and the San Francisco Unified School District, which aims to support quality science education for all levels. Scientists and teachers partner one-on-one in 90–95% of schools in the district15. Scientists can contribute to science education on several levels — for example, by giving classroom lectures, guiding laboratory experiments and serving as an information resource to teachers15.

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PERSPECTIVES In the United Kingdom, the promotion of teaching by young scientists is the main purpose of the INSPIRE programme (Innovative Scheme for Post-Docs in Research and Education), a programme that is supported through a partnership of government, industry and higher education institutions16. This programme provides support for postdoctoral scientists for a 3-year period, half of which is devoted to scientific research and the other half is devoted to teacher training. Not only will postdoctorates obtain a formal teaching qualification, but students and teachers will benefit from having these scientists in the classroom to share their expertise and experiences, career paths and passion for a scientific discipline. Although the ultimate goal of the programme is to increase the number of mathematics and science applications to colleges and universities, an obvious and perhaps more significant outcome is the greater public understanding of science and scientists. Similarly, Researchers in Residence is a programme that is supported by the Wellcome Trust and the research councils of the United Kingdom to encourage science and mathematics professionals to serve as role models in

the classroom and promote science and mathematics to students. Professional scientific organizations can also facilitate the connection between teachers and scientists. For example, The Mentor Network, which is sponsored by the American Society of Human Genetics, NHGRI, the Genetic Alliance, the National Society of Genetic Counselors and the Genetics Society of America Mentorship Program, provides a mechanism to actively mobilize genetic scientists and health professionals. Similarly, MdBio, a private, non-profit corporation that is based in Maryland, coordinates the MdBio SpeakerSearch programme that provides free access to bioscience professionals who volunteer to speak at local schools. Professional organizations can also develop membership incentives as well as recognize the contributions of scientists as teachers of genetics to help raise the importance of outreach activities and education among scientists. Laboratory activities. A recently released report from the US National Research Council on high-school science laboratories concluded that laboratory experiences are deemed poor for most students17. Lack of

Box 1 | Genetics education: a horizontal and vertical approach Horizontal approach Genetics in school curricula is almost exclusively taught in science classes and its multidisciplinary nature is rarely fully explored. The horizontal integration of genetics across a curriculum is not a new concept; it capitalizes on the cross-cutting disposition of genetics. This approach would not require new classes or units, but take advantage of existing classes that are relevant to genetics. For example, calculating the probability of obtaining a green pea offspring from a yellow pea that is crossed to a green pea requires a basic understanding of fractions and percentages. Therefore, in mathematics classes, using this example to teach fractions would highlight the importance of mathematics in science and medicine, integrate lessons across subjects, and provide a cohesive learning environment. Genetics can also be used as a common thread or link between multiple subjects at the university level. As one example, Duke University offers a multicourse freshmen seminar programme that explores the human genome revolution across several disciplines, including biology and medicine, English, law and policy, and computer science. Vertical approach By vertically integrating genetics throughout their education, students can build on knowledge that is gained from previous units, expand their understanding of genetics and apply their knowledge of genetics to different areas of life. A multilayered approach that is tailored to a student’s grade and learning level and is built on coursework would promote a more comprehensive learning approach than a single exposure to introductory genetics or repeated exposure to the same material. One example of a vertically integrated approach to education has been developed by the Genetics Education Partnership in the state of Washington, which has developed a framework for genetics instruction from kindergarten to twelfth grade. The vertical expansion of genetics can be tailored to the grade, curricula, level of difficulty and classes offered. In middle or high schools, following the introductory genetics unit, knowledge of genetics can be expanded to include basic molecular genetics, landmark experiments that led to the identification of DNA as the unit of inheritance and the structure of DNA, the concept of genetic variation and tools to examine variation, the overlap between cell biology (for example, mitosis and meiosis), and human genetic disease (for example, Down syndrome). As students progress to advanced course material in other subjects, genetics can also be integrated across subjects, such as learning about the social history of genetics and the implications of scientific beliefs in the early twentieth century and their significance in the Second World War in social studies or history classes.

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teacher preparation, inadequate supplies and equipment, and a disconnection from other science learning activities were identified as contributors of unsatisfactory laboratory experiences17. The report emphasized that laboratory experiments should not be considered as isolated exercises. To this point, ‘integrated instructional units’ were recommended to link laboratory experiments with classroom learning activities. As molecular genetics technologies are rapidly evolving towards high-throughput automated applications, identifying effective and affordable laboratory activities could be challenging. Common molecular research tools, such as GFP, are now being used in genetics laboratory experiments18. Several commercial vendors provide laboratory kits and supplies for classroom molecular genetics experiments. For example, Edvotek offers more than 100 unique laboratory kits for activities such as DNA electrophoresis and bacterial transformations. In addition, they also supply basic equipment such as water baths and pipettes, which are used in many biotechnology experiments. The Biotechnology Explorer Programme at Bio-Rad Laboratories offers molecular biology kits, which are developed by teachers and scientists, that can be adapted for students from middle school to university. The laboratory kits and accompanying curricula are designed to meet current US educational standards and also relate to current practices in science. Because equipment, reagents and kits for genetics laboratory experiments can be costly and therefore not feasible owing to limited school budgets, several groups have developed programmes to meet this need. The Fralin Biotechnology Center at Virginia Polytechnic Institute and State University operates the Biotech-in-a-Box programme. This programme supplies biotechnology equipment and materials to high schools and community colleges in Virginia for biotechnology laboratory activities. Teachers can apply to borrow these kits for 2 to 3 weeks at no charge. Similarly, the Genetic Science Learning Center and the Gene Connection group provide laboratory kits and reagents for DNA experiments to teachers in Utah and San Mateo County, California, respectively. Downloadable, CD-ROM or DVD presentations and activities. Roche has developed an interactive CD-ROM to promote learning of the basic principles of genetics. The CD-ROM is targeted at a broad audience and is available in several languages at no cost. In addition, a presentation tool is

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PERSPECTIVES easily downloadable to allow presentations to be customized by pre-selecting various screens from the CD-ROM. A teacher’s manual is also available online that provides several student activities that are matched to each of the five units contained on the CD-ROM. The BioInteractive site hosted by the Howard Hughes Medical Institute allows users to download lectures that are given by leading researchers in the field. Lecture topics include the genetics of obesity, RNA and evolution, with new topics added annually. The lectures are often indexed to allow sections of lectures to be viewed along with the speaker’s slide presentation and can be either downloaded or ordered as a CD-ROM or DVD. In addition, lesson plans and activities have been developed to accompany many of the lectures. To commemorate the completion of the Human Genome Project, NHGRI released a multimedia educational kit, Exploring Our Molecular Selves, for high-school students and the general public. The kit has been converted to easily downloadable modules that cover topics such as how to sequence a genome, genetic variation, and the ethical, social and legal implications of genetics and genomics research. An interdisciplinary approach Genetics is a multidisciplinary area of study that incorporates biology, chemistry, law, ethics, philosophy, computer science and mathematics. As a field of study that cuts across many disciplines, the question about whether it should be taught as a subject on its own or integrated among other disciplines, or both, has been debated. In the United States, genetics is generally taught in science and biology classes as a unit on heredity, providing an introduction to Mendel’s experiments and theories, carrying out class exercises using Punnett squares, and covering simple human traits such as eye colour and well-known diseases such as cystic fibrosis. Students might also have the opportunity to learn basic molecular genetics (eukaryotic and prokaryotic), how to draw pedigrees and calculate risk probabilities, and general laboratory techniques. In England and Wales, the national curriculum includes basic genetics, but it is not until A Level that students begin to learn about the current applications of genetics such as genetic engineering. Further factors that might influence the quantity and quality of genetics instruction include state and national standards, content of examinations,

Box 2 | Undergraduate genetics education The selection of topics to include within a genetics course syllabus will be influenced by several factors, including the expertise of the course instructor, the target audience (for example, science majors, non-science majors or a combination of the two, and advanced or introductory level), the research interests within the department, whether a laboratory course is offered or required, and the available textbooks. Given that there is no shortage of lecture topics to choose from, the challenge is in deciding which topics are a necessity and which are expendable or interchangeable. In contrast to secondary education, undergraduate education is not constrained by national and local standards or requirements. This might be both an advantage and a disadvantage, allowing faculty members the flexibility to incorporate new topics, but resulting in inconsistency between genetics programmes and courses. The structure and content of a general genetics course could be developed using a three-tiered approach: to provide a basic foundation of genetics concepts, vocabulary and mechanisms; to describe the scope of the field and the different areas of study (for example, human genetics, bacterial or viral genetics, model organism genetics, genomics, population genetics, evolutionary genetics and policy); and to demonstrate the applications of genetics knowledge (for example, diagnostic tests, genetically modified organisms and forensics). For a genetics course for science majors, the introductory section can be more in-depth as these students are likely to have already acquired an introductory level of genetics knowledge. As many of the lectures will be ‘outside’ the area of expertise of the course instructor, either the course must be team-taught or the course instructor must be actively and broadly trained. Furthermore, undergraduate education needs to reflect the interdisciplinary nature of genetics and genomics research22. Breaking down departmental walls will be crucial in ensuring that students are adequately trained across multiple disciplines. The suggested model for a unified introductory biology curriculum that integrates mathematics and quantitative coursework23 might be considered for genetics and genomics courses as well.

teacher expertise, competing subjects and available time. Given the varied skills that are needed to comprehend genetics concepts and applications, it would seem logical that genetics be taught across a curriculum as well as throughout a student’s education (a horizontal and vertical integration; BOX 1). By capitalizing on the multidisciplinary nature of genetics, genetics can be horizontally integrated across several subjects for a given grade and level of difficulty. Genetics can also be integrated vertically throughout a student’s educational career. By vertically integrating genetics and now genomics, students can build on the knowledge they have gained from previous units and link it to real-time applications (BOX 1). A primary example of this interdisciplinary approach is the integration of material about the ethical, legal and social implications of genetics research and applications. For example, several BSCS curricula such as Mapping and Sequencing the Human Genome — Science, Ethics, and Public Policy, The Human Genome Project — Biology, Computers, and Privacy and Bioinformatics and the Human Genome Project raise issues such as discrimination, informed consent and privacy of genetic information. However, one of the greatest challenges to both science teachers and non-science teachers is their lack of training in subjects that are outside their discipline. In particular,

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science teachers might not be adequately trained to discuss the bioethics or legal implications of genetic applications and non-science teachers might be unprepared to address the technical aspects of genetics. To address this challenge, BSCS curricula provide a framework for teaching aspects of genetic applications that might be unfamiliar to teachers through the use of case studies. Teaching the teachers Science teachers. Similar to the continuing educational needs of physicians, teachers should be continuously trained to equip them with the most up-to-date information and laboratory skills. To avoid a substantial gap in knowledge, it is crucial that genetics instruction reflect current genetic research and knowledge19. Whereas Mendelian genetics can be extremely helpful in teaching the foundations of genetics, the oversimplification of genetics might confound current knowledge about the complexities of genes, environment and health. The DNALC conducts teacher-training workshops for secondary and university faculty members at the DNALC and at sites throughout the United States. Likewise, the Genetic Science Learning Center at the University of Utah offers several summer workshops for teachers. The week-long workshops cover topics such as heredity, genomic sciences and genetics of addiction. Stipends, travel expenses and

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PERSPECTIVES credit are available. The Department of Genetics and the School of Botany at the University of Melbourne offer a three-day course for teachers of Victorian Certificate of Education (VCE) biology units 3 and 4. The course covers a range of topics including genetically modified organisms, bioinformatics, comparative genomics, and genetics and disease. Museums also offer professional development classes for teachers. The American Museum of Natural History offers a wide selection of online courses for graduate and continuing education credits. Its course on genetics explores the basics of genetics, new applications and ethical issues. Scientists and health professionals. Not all scientists and health professionals are adequately trained to communicate effectively to students or develop an age-appropriate lecture or laboratory activity. To that end, the North West Genetics Knowledge Park in the United Kingdom has hosted workshops for geneticists to improve communication to the public and to link geneticists to interested groups and classes. What to teach The question of what to teach about genetics is legitimate, as it is not possible to teach everything given the limited time, resources and competing interests. However, the answer will probably vary according to the goals of the specific course (for example, introductory or advanced), local and national standards, available resources, and teacher knowledge (see BOX 2 for some recommendations for guidance on undergraduate teaching). Overall, raising the understanding of genetic concepts, applications, and social and ethical issues should remain a common goal of all courses regardless of specific course goals. Similar to the lack of connection between laboratory activities and lectures, there also seems to be a lack of connection between classroom science and real-world applications. Part of the excitement of learning about genetics is the ability to relate information that is learned in the classroom to everyday life and advancing understanding of our health, family, environment and workplace — something that scientific laws, theories and history do not necessarily provide. By building on basic science courses, the general knowledge base can be extended to current and future applications of genetics research. For example, patients’ understanding of genetic applications is often disconnected from scientific concepts and

principles20. To address this issue, a publishing company, Industry Supports Education, developed the Schoolscience web site to provide high-quality science education support materials that are specifically designed to convey how science relates to society and current events in science. Topics such as drug development, the Human Genome Project, bioethics, the genetic basis of cystic fibrosis and other topics in biology, chemistry and physics are targeted at specific grade levels. In addition to studying the structures and make-up of genes and proteins, students can also examine actual genes and proteins through many of the public genome databases21. A wealth of information is available in numerous databases that are maintained by the National Center for Biotechnology Information or the Sanger Institute and EMBL-EBI, including raw and annotated gene sequences, protein structures, and descriptions of gene function and their relationship to disease. A series of bioinformatics activities that were developed by the Gene Technology Access Centre uses gene sequences and protein structures that were obtained from public databases to teach human disease, evolution and comparative genomics. Conclusion The overall goal of enhancing basic genetics education is not to create mini-geneticists. Rather, the goal is to provide a foundation of knowledge that will adequately allow individuals to understand general genetic concepts, applications, and social and ethical issues, and become informed users of genetics technology and resulting applications. Owing to the rapidly changing knowledge base, educational resources in genetics need to be continuously updated and revised to reflect current scientific findings to provide the most accurate information. To help users systematically identify appropriate genetic educational resources to meet their goals and needs, the development of a navigational tool would be useful. Although many programmes and initiatives are already underway to enhance genetics education, new proposals could help to enhance the teaching of genetics and usher in the emerging field of genomics. Susanne Haga is at the Institute for Genome Sciences and Policy, Duke University, 101 Science Drive, Durham, North Carolina 27708, USA. e-mail: [email protected] doi:10.1038/nrg1803 Published online 7 February 2006 1.

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Acknowledgements The author would like to thank J. McInerney and D. Micklos for their assistance in preparation of this manuscript.

Competing interests statement The author declares no competing financial interests.

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PERSPECTIVES FURTHER INFORMATION Active Science: http://www.activescience-gsk.com/home.cfm BioInteractive: http://www.hhmi.org/biointeractive Biotech-in-a-Box: http://www.biotech.vt.edu/outreach/biotech_box.html Bioinformatics and the Human Genome Project: http://www.bscs.org/page.asp?pageid=0|31|53|308|77 Centre for Genetics Education: http://www.genetics.com.au DNA From The Beginning: http://www.dnaftb.org DNA Interactive: http://www.dnai.org Dolan DNA Learning Center: http://www.dnalc.org/ddnalc/about Edvotek: http://www.edvotek.com EMBL-EBI: http://www.ensembl.org/index.html Exploring Our Molecular Selves: http://www.genome.gov/Pages/EducationKit Gene Almanac: http://www.genealmanac.org Gene Connection: http://www.geneconnection.org/index.html GeneCRC: http://www.genecrc.org/site/lc/index_lc.htm Gene Technology Access Centre: http://www.gtac.edu.au/site/ bioinformatics/bioinformatics_index.html Gene Tests: http://www.genetests.org Genetic Origins: http://www.geneticorigins.org Genetic Resources on the Web: http://www.geneticsresources.org Genetic Science Learning Center: http://gslc.genetics.utah.edu Genetics Education and Community Interactions: http://www.genetics.unimelb.edu.au/GenEd

Genetics Education and Health Research Unit of the Murdoch Children’s Research Institute: http://www.mcri.edu.au/pages/education/index.asp Genetics Education Partnership at the University of Washington: http://genetics-education-partnership.mbt.washington.edu Genetics Home Reference: http://ghr.nlm.nih.gov Genome Programs of the US Department of Energy Office of Science: http://doegenomes.org Human Genetic Variation curriculum supplement: http://science-education.nih.gov/supplements/nih1/genetic/ default.htm Innovative Scheme for Post-Docs in Research and Education: http://www.imperial.ac.uk/inspire Kids Genetics: http://www.genetics.gsk.com/kids/index_kids.htm Mapping and Sequencing the Human Genome — Science, Ethics, and Public Policy: http://www.bscs.org/page.asp?pageid=0|31|53|308|86 MdBio SpeakerSearch: http://speakers.mdbio.org MEDLINE: http://medline.cos.com National Center for Biotechnology Information: http://www.ncbi.nlm.nih.gov National Coalition for Health Professional Education in Genetics: http://www.nchpeg.org National Genetics Education and Development Centre: http:// www.geneticseducation.nhs.uk National Human Genome Research Institute: http://www.genome.gov National Library of Medicine: http://www.nlm.nih.gov

OPINION

Functional mapping — how to map and study the genetic architecture of dynamic complex traits Rongling Wu and Min Lin

Abstract | The development of any organism is a complex dynamic process that is controlled by a network of genes as well as by environmental factors. Traditional mapping approaches for analysing phenotypic data measured at a single time point are too simple to reveal the genetic control of developmental processes. A general statistical mapping framework, called functional mapping, has been proposed to characterize, in a single step, the quantitative trait loci (QTLs) or nucleotides (QTNs) that underlie a complex dynamic trait. Functional mapping estimates mathematical parameters that describe the developmental mechanisms of trait formation and expression for each QTL or QTN. The approach provides a useful quantitative and testable framework for assessing the interplay between gene actions or interactions and developmental changes. Most traits of biological, biomedical and agricultural importance are complex — they are under the control of an interacting network of genes, each with a small effect, and of environmental factors1. For this reason, the genetic study of these so-called quantitative or complex traits has long been one of the most daunting tasks in biology. Several quantitative genetic models that combine Mendelian inheritance and traditional statistical approaches, such as analysis of (co)variance, have been developed to separate the genetic

and environmental effects on quantitative traits1. The experimental results from these models have been instrumental in providing guidance for plant and animal breeding2 as well as evolutionary predictions for developmental events3,4. The rapid development of molecular technologies has allowed the generation of an almost unlimited number of markers that specify the genome structure and organization of any organism5. Also, improved statistical and computational techniques6 have

NATURE REVIEWS | GENETICS

North West Genetics Knowledge Park: http://www.nowgen.org.uk Online courses at the American Museum of Natural History: http://learn.amnh.org/courses/genetics.php Online Mendelian Inheritance in Man: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM People and Medicine: http://www.schoolscience.co.uk/ content/4/biology/glaxo/index.html Researchers in Residence: http://extra.shu.ac.uk/rinr/site/ourmsg/rinr Resources for Involving Scientists in Education: http://www.nas.edu/rise Roche Genetics Education Program CD-ROM: http://www.roche.com/sci_gengen_cdrom Sanger Institute: http://www.sanger.ac.uk Schoolscience: http://www.schoolscience.co.uk/content/index.asp Science & Health Education Partnership: http://biochemistry.ucsf.edu/~sep The Biotechnology Explorer Programme: http://www.explorer.bio-rad.com The Human Genome Project — Biology, Computers, and Privacy: http://www.bscs.org/page.asp?pageid=0|31|53|308|85 The Mentor Network: http://www.ashg.org/genetics/ashg/ educ/003.shtml The Puzzle of Inheritance: Genetics and the Methods of Science: http://www.bscs.org/page.asp?pageid=0|31|53|308|90 Your Genes, Your Health: http://www.yourgenesyourhealth.org Access to this interactive links box is free online.

made it possible to tackle highly complicated genetic and genomic problems. The integration of molecular genetics and statistics has culminated in a seminal mapping paper in which Lander and Botstein7 proposed a tractable statistical algorithm for dissecting a quantitative trait into its individual genetic locus components, referred to as quantitative trait loci (QTLs). Since then, there has been a wealth of literature concerning the development of statistical methods for mapping complex traits8–12 and their applications in plant, animal and human genetics13–17. Analytical strategies for QTL mapping have been expanded to whole-genome mapping of epistatic QTLs by making use of all markers12. Such mapping strategies need to be carried out in an experimental cross (backcross, F2 or full-sib family), a structured pedigree or a natural population, in which putative QTLs and markers are co-segregating owing to their physical linkage. Although useful, traditional statistical approaches to QTL mapping neglect the developmental features of trait formation. For example, body height and weight, milk production, tumour size, HIV load, circadian clock and drug response all change with time or other independent variables and so genetic control of the trait should be accordingly represented as a function of an independent variable. An approximate approach to detecting time-dependent genetic effects for these dynamic traits has been to associate markers with phenotypes for different times or stages of development and to compare the differences across these stages18. More effectively, single-trait interval mapping has been

VOLUME 7 | MARCH 2006 | 229

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