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  1. 1. University of Florida Health Science Center Libraries Genetics Resources for Clinicians Fall 2002 Michele R. Tennant MINIMUM COMPETENCIES EXPECTED: •Keyboard skills •Mouse skills •Internet browser familiarity •Experience searching bibliographic databases (preferably MEDLINE) •An interest in genetics! OBJECTIVES: By the end of today's class you should: •be familiar with a number of medical and molecular genetics resources available over the web; •know how to use Medical Subject Headings (MeSH) to find in PubMed journal articles concerning medical and molecular genetics; •know of two other bibliographic databases that have useful genetics information; •be able to find books and periodicals on medical and molecular genetics in the Health Science Center Libraries; •be familiar with some of the best print sources on medical genetics. OUTLINE: 1. Introduction p.2 2. Web-based clinical genetics sites p.2-10 3. Bibliographic databases with clinical genetics information p.10 4. Controlled versus non-controlled vocabularies p.10-11 5. Searching PubMed for clinical genetics information p.11-12 6. Other bibliographic databases p.12 7. Finding print resources at the HSCL p.13 8. Selected annotated bibliography of HSCL print resources p.14-22 INTRODUCTION: GENRESCLINICIANS.DOC MRT 9/02
  2. 2. Clinicians, more than ever before, are faced with a need for genetics information. Genetics plays a crucial role in the predisposition and etiology of disease, and genetic methods are becoming more and more important in both diagnosis and treatment. Patients and clinicians seek information on the transmission and risk for particular genetic disorders. More patients are coming in to see their health care professionals armed with information from reputable (and not so reputable) sources. Issues in genetic screening, the new therapies, and the impact of the Human Genome Project, all require consideration of “genethics”. This course has been developed for health care workers or students who need to find resources to learn the basics of genetics, and how genetics relates to medicine; for clinicians already well informed in these subjects, but who need to locate more complex information to keep knowledge current; and for clinicians who need to find information for patients concerning genetics and genetic disorders. We will begin with a tour of web sites that contain clinical genetics information for physicians, nurses, public health workers, genetic counselors, genetics educators, other health care professionals, patients and researchers. We will then move on to finding genetics information (journal articles) in PubMed, and we will introduce two other useful literature databases. Finally, we will learn to locate materials that are housed in the HSCL, and survey a number of well-regarded books in the area of medical genetics. WEB-BASED CLINICAL GENETICS RESOURCES There are a number of excellent clinical genetics resources available on the web, encompassing tutorials for clinicians, patient information, searchable databases, professional listservs, and “genethics” sites. Below you will find descriptions of a number of highly-rated web sites. IN-DEPTH OVERVIEWS OF PARTICULAR DISORDERS: Online Mendelian Inheritance in Man (OMIM) This site is probably the best place to start for comprehensive overviews of genetic disorders. OMIM is the online version of the popular 3 volume print set Mendelian Inheritance in Man. Covers over 13,000 human genes and genetic disorders in up-to-date broad overviews (you can think of these as review articles that are constantly updated). Includes information on clinical features, inheritance, mapping, molecular genetics, pathogenesis, diagnosis, clinical management, animal models, allelic variation, population genetics, etc., if known for a particular human gene or genetic disorder. References include links to PubMed records/abstracts, as well as a variety of “researchy” databases (GenBank, Protein Databank, Genome Database, Mouse Genome Database, etc.). Reviews are updated as knowledge is discovered; records provide update history dates. Written at the advanced student/professional level. GENRESCLINICIANS.DOC MRT 2/02 2
  3. 3. GeneTests-GeneClinics (formerly two separate but linked resources; GeneClinics and GeneTests) GeneTests-GeneClinics comes from the University of Washington and is funded by the National Library of Medicine (NIH) and the Maternal Child Health Bureau (HRSA). This resource is a “medical knowledge base relating genetic testing to the diagnosis, management, and genetic counseling of individuals and families with specific inherited disorders”. The resource currently includes over 160 “GeneReviews” - peer-reviewed expert-authored disease profiles and overviews. Written at a level for patients to understand, but also useful for clinicians. Current profiles are updated as new information becomes available. Searchers may locate information by searching on parameters, such as OMIM number, gene, and gene feature. Links to other resources such as OMIM and HGMD (Human Gene Mutation Database). The Education Section's "About Genetic Services" explains genetic counseling and testing concepts. Teaching Tools includes a powerpoint presentation entitled "The Primary Care Physician: The Primary Source of Genetic Testing Information." A Glossary of Terms related to the vocabulary used on the website is also available. The Laboratory Directory lists the laboratories that test for inherited disorders (subdivided by diagnostic and research purposes). GeneTests provides an introduction to genetic counseling and genetic testing terms, and also includes summary information for health policy-makers. New diseases added to the site in the last 30 days are highlighted. You may search for a lab by disease name and a variety of other attributes (OMIM number, for example). Over 1000 clinics and 500 laboratories are listed, covering testing for over 900 genetic disorders. Gene Cards: Human Genes, Proteins, and Diseases (faster mirror site at ) Database of concise information on human genes, proteins, and genetic disorders. Searchable system that “extracts” information from a variety of other databases (OMIM, GenBank, etc.). Search system includes a “spell corrector” and “navigation support system” that facilitates information retrieval. Final printable products include “GeneCards”, summaries of the extracted information. BROAD-COVERAGE, MULTIFACETED GENETICS SITES: Information for Genetics Professionals (Univ. of Kansas Medical Center) The most diverse and comprehensive web site with information for clinicians, patients, educators, students and researchers. The page links to scores of genetics support groups, genetic society web pages and information on genetics meetings and conferences. A genetics education center includes dozens of curricula from grade school through college level and links to professional level genetics courses and materials written for the lay public. GENRESCLINICIANS.DOC MRT 2/02 3
  4. 4. Ethical, Legal and Social Implications (ELSI) of the Human Genome Project, and frequently asked questions on genetics and genetic disorders are also covered. A search engine helps locate information buried in this information-rich site. National Coalition for Health Professional Education in Genetics This group, started in 1996 by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute, strives to make human genetics information and education accessible to health care professionals. Members of NCHPEG come from over 100 health professional organizations. The page has recently been completely revamped, with some sections still under construction. The main page links to various documents, including "Core Competencies in Genetics", the NCHPEG Strategic Plan, and featured articles. The "Educational Programs" link takes users to information on existing genetics programs, and evaluated genetics web sites. Although developed for health care professionals, consumers will also find this site useful. GENETIC TESTING: GeneTests See GeneClinics- GeneTests above. Understanding Gene Testing Another excellent resource for patients and genetics beginners. This site is the e-version of a print resource published by the U.S. Department of Health and Human Services (QZ 50 U55 1997 at the HSCL), and provides “basic information about gene testing and key genetic concepts”. Describes basic genetics, mutation, gene testing and how it works, benefits, limitations and risks of gene testing. Topics are introduced as a series of FAQs (e.g., How do genes work? Who are candidates for gene testing?). Easy to read, simple but clear graphics, includes a short glossary. BASIC GENETICS INFORMATION AND TUTORIALS: Blazing a Genetic Trail Newly updated in the Spring of 2002, this 1997 report from the Howard Hughes Medical Institute, is subtitled “Families and scientists join in seeking the flawed genes that cause disease”. An excellent resource for patients and genetics beginners to understand how genes cause disease, and how scientists decode the mysteries of genetic disorders. The site also provides a “key” to basic genetics and a glossary of genetics terms. Easy to read; written in a personal style. A Spanish version is also now available. The original 1997 document may be downloaded from the website. GENRESCLINICIANS.DOC MRT 2/02 4
  5. 5. InTouchLive - Cancer and Genetics Cancer and Genetics is a site developed to help physicians, nurses, other health care providers and patients learn more about the genetic causes of cancer. The site has been completely revamped in the last few months, and is now available from the site; the site is now more frequently updated and includes much more content. Content is provided by Eugene Pergament, MD, PhD, Northwestern University Medical School, and Morry Fiddler, PhD, School for New Learning, DePaul University. In addition to case studies, the site provides information on cancer and the cell cycle, genetic basis of disease, genetic counseling for cancer risk management, genetics of cancer, basics of molecular genetics, and cancer gene therapy. Clinical Genetics – A Self Study for Health Care Providers (University of Iowa; Virtual Hospital) Created by Virginia Johnson (MD, Medical Genetics Professor) and Carol Christianson (MS, Genetics Counselor) at the University of South Dakota, this site is a self-study inservice training in medical genetics. This site was developed to “provide health care professionals (social workers, nutritionists, physical therapists, occupational therapists, nurses, nurse practitioners, physicians, physician assistants, and educators) with the necessary background information, skills and tools to recognize the need for a genetics referral, identify area resources, and provide supportive care for individuals and families with a genetic disorder.” Includes 4 lessons, a glossary, annotated bibliography, visual aids for patients, and a directory of regional genetics networks. Note - the site has not been updated since 1998. DNA Learning Center The DNA Learning Center comes from Cold Spring Harbor Laboratory, a leader in genetics and molecular biology research, and is devoted to public genetics education. Its mission statement clearly articulates why genetics education is important to the general public. The site provides links to educational resources, “Your Genes Your Health” (Cystic Fibrosis, Hemophilia, Marfan Syndrome, Fragile X Syndrome), and links to some full-text articles. Excellent molecular biology animation (resources - Biology Animation Library - PCR; automated sequencing), and the Image Archive of the American Eugenics Movement. "DNA From the Beginning" contains text, animations, audio/video, problems, and biographies related to particular genetics concepts. Glossary of Genetics Terms (NHGRI) Searchable glossary of genetics terms, this one directly from the National Human Genome Research Institute (see below). Includes links to related terms, whether or not they appear in the searched term’s definition. Includes pronunciation of term. Links to audio definitions; you can hear Dr. Francis Collins and other genetics researchers explain many of the terms. GENRESCLINICIANS.DOC MRT 2/02 5
  6. 6. Hypermedia Glossary of Genetic Terms Another searchable glossary of genetics terms created by Dr. Birgid Schlindwein in Germany; terms are also retrievable via an A-Z list. Each term’s definition includes links to additional genetics definitions (1st Layer Related Terms). Cited by both HMS Beagle and the Scout Report. Updated frequently. Genomics and its Impact on Medicine and Society: A 2001 Primer (Update) Primer on Molecular Genetics (1992) This primer comes from the U.S. Department of Energy, and is an excellent resource for learning more about genetics at the molecular level. This resource is the downloadable version of a 44-page booklet describing the basics of DNA, chromosomes, mapping and sequencing the human genome, how to interpret genetic data, and the impact of the Human Genome Project. Although published in 1992, this resource still contains information essential to understanding molecular genetics. A 2001 Update is now available from the same site. HUMAN GENOME PROJECT: National Human Genome Research Institute (NHGRI) Information on the Human Genome Project directly from the source. Includes information on the project, its goals and progress, grant and intramural research programs, and links to genetics information in the news. The site has been greatly expanded in the last year, and now provides links to genetics FAQs, genetics of particular disorders, and a Policy and Ethics section. Links to educational resources, and information on careers, training, and grants is also provided. NEWS AND COMMUNICATION WITH COLLEAGUES: HUM-MOLGEN This web resource allows genetics professionals (clinicians and researchers) and patients to share the latest information on human molecular genetics. HUM-MOLGEN is an international “moderated communication service in human genetics”. HUM-MOLGEN includes a variety of services and discussion groups for particular aspects of human molecular genetics. Researchers and clinicians can send messages to identify potential collaborative research groups, locate equipment and protocols, share insights into difficult diagnoses, etc.; patients can request information through the HUM-MOLGEN editorial board. Includes multiple links to other genetics web pages. PATIENT INFORMATION/SUPPORT GROUPS: GENRESCLINICIANS.DOC MRT 2/02 6
  7. 7. Genes and Disease (National Library of Medicine) Easy to read basic introductions to the genetics of over 70 genetic disorders. Searchers may choose from chromosome or system. The site provides links to a variety of other useful web pages. This is an excellent basic genetics resource for consumers. Recent reviews of Genes and Disease have been highly favorable. Genetic Alliance (formerly Alliance of Genetic Support Groups) The Genetic Alliance was created as a nonprofit “national coalition of consumers, professionals and genetic support groups to voice the common concerns of children, adults and families living with, and at risk for, genetic conditions”. This page includes a searchable database of member organizations (by condition, organization name, service offered). Includes links to multiple educational resources for students and educators. Patients and families can subscribe to a listserv; the organization’s Information Resource Center accepts questions via mail, e-mail, and phone. The site links to information resources in bioethics, genetics careers, educational resources, ethnocultural issues, genetics resources, grief and loss, Medicaid and SSI, and the group’s newsletter Alliance Alert. Genetic and Rare Conditions Site A link from the Information for Genetics Professionals site described above, this directory provides information on support groups and links to some full-text resources for hundreds of genetic disorders. MEDLINEplus Health Information MEDLINEplus has been developed by the National Library of Medicine to provide to consumers access to health care information resources. This site covers the gamut of medical conditions (not solely those related to genetics) and provides links to health topics (diseases and wellness), a medical encyclopedia, drug information, dictionaries, directories, a clinical trials site, and a variety of other health-related resources. Click on “Health Topics”, then on “Genetics/Birth Defects” for clinical genetics information. Nearly 20 genetic disorders are currently listed and linked to full-text and other consumer information. National Organization for Rare Disorders (NORD) NORD provides information and services on “rare” disorders; those which affect less then 200,000 individuals in the United States (there are over 5000 rare disorders!). NORD is a group of 140 not for profit voluntary health organizations, whose mission is “working toward the prevention, treatment and cure of rare orphan diseases” (many of which are genetic in nature). This web site has three searchable databases: Rare Diseases (over 1100), GENRESCLINICIANS.DOC MRT 2/02 7
  8. 8. Organizational Database, and Orphan Drug Database (over 900 drugs). Short descriptions are available free of charge; fulltext documents are available at a cost. The page links to the NORD Medication Assistance Program, Used Medical Equipment Exchange, research grant program, and NORD’s newsletter Orphan Disease Update. Individuals and institutions can pay to become members, which provides discounts on the annual conference, access to fulltext of reports and other privileges. SouthEastern Regional Genetics Group, Inc. (SERGG) SERGG is a “network of genetics providers of clinical genetic services, public health departments, consumers, and related laboratory services, working together with affected individuals and their families” in Alabama, Florida, Georgia, Kentucky, Louisiana, Mississippi, North Carolina, South Carolina and Tennessee. SERGG works to enhance the quality of genetics services provided in the Southeastern U.S., provides a forum for genetics professionals to exchange information, promotes quality control in the provision of genetics services, supports research to promote better genetic services, and organizes an annual meeting. 16 working committees encompass the group (e.g., Clinical Genetics, Cytogenetics, Financing of Medical Genetics, Education, etc.). The page includes mostly information about the organization, with some links to other genetics resources. ETHICS: Ethical, Legal and Social Implications of the Human Genome Project Another entry from the Information for Genetics Professionals page described above, this site links to policy/position papers provided by a variety of professional genetics societies, ethical issues surrounding genetics testing and privacy, insurance issues, and bioethics centers. ELSI This site from the NHGRC page (described above) provides information on the ELSI Program, developed in 1990 in anticipation of some of the ethical, legal and social issues related to genetic research in humans. The site includes links to press releases and other ELSI publications, policies, legislation and research funding information. ODDS AND ENDS: Office of Genetics and Disease Prevention (CDC) The mission of this office is to “integrate advances in human genetics into public health research, policy and program development and evaluation”. This office helps public health officials, clinicians and educators apply genetics to disease prevention. The page links to factsheets and the e-newsletter Genetics GENRESCLINICIANS.DOC MRT 2/02 8
  9. 9. & Disease Prevention, which includes genetics announcements, updates on scientific discovery, a detailed “genetics in the news” section and upcoming genetics events. The site also links to a “careers in genetics” page. ALSO from the same site: HuGENET “A global collaboration of individuals and organizations who develop and communicate epidemiologic information on the human genome.” Includes e- journal club, the HuGENET database (value added annotated PubMed records), HUGE Reviews and Factsheets. Jablonski's Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database Searchable resource that provides syndrome summaries as well as clinical features. The database may be searched by major feature, syndrome name or synonym, MeSH terms, OMIM numbers, personalia. Clicking on the “alphabetic table of contents” button will lead to an alphabetized list of the syndromes included. Links to OMIM and PubMed records. Orphanet Database of services and resources dealing with rare diseases and orphan drugs. Presented in both English and French, Orphanet includes an online encyclopedia and resources for both clinicians and patients. The database currently includes over 1100 diseases. Instructions are also available in German, Spanish, Portuguese, and Italian. GENETICS, MOLECULAR BIOLOGY AND BIOINFORMATICS RESEARCH: National Center for Biotechnology Information If you need one “researchy” site, this is the one to visit. Contains links to a variety of NCBI databases, including GenBank (nucleotide and protein sequences), Structures (three-dimensional viewing of protein structures), Genomes (full and partial genomes of organisms) and a multitude of other resources. Probably the first stop for research geneticists/molecular biologists. Other clinical genetics sites (official and not) abound on the web. See more evaluated sites in the HSCL’s Internet Resource Catalog (IRC) at If you are also interested in “researchy” type genetics resources, check out the IRC at: or GENRESCLINICIANS.DOC MRT 2/02 9
  10. 10. To learn how to evaluate the quality of sites on the web, see the HSCL’s online tutorial at . BIBLIOGRAPHIC DATABASES WITH CLINICAL GENETICS INFORMATION PubMed is the bibliographic database most identified with clinical genetics information. It is available through the HSCL webpage, and goes back to 1966. It is also freely available over the Web free at . PubMed is international in scope and covers over 3500 clinical and research journals. In order to effectively search PubMed, it is necessary to understand its “controlled” vocabulary, and the relationships among the “genetics” terms in the database. CONTROLLED VERSUS NON-CONTROLLED VOCABULARIES: A controlled vocabulary is a list of accepted terminology used by indexers to describe the subject content of an article, book, dissertation, proceedings or other publication. Using a controlled vocabulary in a database provides consistency in indexing records. Controlled vocabulary is also referred to as Subject Headings, Descriptors, or a Thesaurus. Non-controlled vocabularies are those which do not specify particular terms to describe a topic. Characteristics of controlled and non-controlled vocabularies are listed below: Controlled Vocabularies: •Subject terms are identified through a Thesaurus and applied to the citations by an indexer. •User does not need to "guess" terms used by author; all synonyms are gathered under one term; a single search can be exhaustive. •Specific nature of terms decreases retrieval of irrelevant citations. •Allows use of special features to narrow or broaden searches. •Keyword searching is RARELY used, usually when subject headings do not exist for a new, uncommon, or very specific concept. •Medical Subject Headings (MeSH) are the controlled vocabulary terms used for subject searching in WebSPIRS MEDLINE and PubMed Noncontrolled Vocabularies: •Search using textword rather than subject. •No specified vocabulary; user tries to match search string to terms used by the author. •User must identify and try all possible synonyms/alternate spellings, etc. •Sophisticated ways to narrow/broaden searches are not available. •Current Contents and Science Citation Index use noncontrolled vocabularies. SEARCHING PubMed: GENRESCLINICIANS.DOC MRT 2/02 10
  11. 11. Complete instructions for searching PubMed are available through the handout you received today. Today we’ll try a couple of examples, finding papers on the “genetics of Menkes Syndrome”, and also papers on the “use of gene therapy to treat breast cancer”. Keep in mind that the citations in PubMed are to articles that have been written primarily for researchers and clinicians, not for patients. While using the MeSH Browser to find a proper search term is essential to performing a good search in PubMed, the MeSH Browser can also show you the relationships among the many “genetics” terms in the database. The terms in the MeSH Browser are related to each other through a series of hierarchies. (The tree numbers are not listed in the MeSH Browser, but instead in the print resources – Medical Subject Headings - an Annotated List and Tree Structures). Genetics G5+ Cytogenetics G5.148+ Cell Cycle G5.148.165+ Cell Division Phases G5. Anaphase G5. Etc. Chromosome Segregation G5. Etc. Chromosome Aberrations G5.148.266+ Aneuploidy G5.148.266.131+ Monosomy G5. Trisomy G5. Chromosome Breakage G5.148.266.280 Etc. Etc. Genes G5.275+ Oncogenes G5.275.740+ Proto-oncogenes G5.275.740.791+ Genes, abl G5.275.740.791.100 Etc Genetics, Medical G5.358+ Consanguinity G5.358.209 Eugenics G5.358.368 Genetic Counseling G5.358.493 Etc. As useful as the G5 tree can be, it does NOT include ALL the terms that we might consider “genetic”. Note that terms such as Gene Therapy (E2.95.301/ E5.393.420.301) and Hereditary Diseases (C16.466), although “genetic” in nature, do not appear in the G5 tree; Gene Therapy is a “E2-Procedures and Techniques, Therapeutic” and Hereditary Diseases is a “C16-Neonatal Diseases and Abnormalities”. Chromosomes are body parts, and as such are A11.223.475+ (Anatomy-Cells tree). Note also that “Hereditary Diseases” does NOT necessarily cover all diseases that we now know to be genetic. Other broad headings for genetic disorders include “Abnormalities, Multiple”, GENRESCLINICIANS.DOC MRT 2/02 11
  12. 12. “Chromosome Abnormalities”, etc. in the C16 tree; and of course, any disorder with the subheading “genetics”. The way PubMed assigns terms may not always be initially obvious, another reason to carefully consider scope notes in the MeSH Browser when available. Additionally, when searching using the MeSH Browser, you will miss the most recent one or two months of citations. To kind those very recent works, you must also search the "in process" part of the database. To do this, click on limits, change to "in process" subset, and then perform a "keyword search". For more information on searching PubMed, see our “cheat sheet at , and the HSCL’s PubMed tutorial: . OTHER USEFUL DATABASES: For genetics information with a more nursing/allied health slant, try CINAHL, the Cumulative Index to Nursing and Allied Health Literature. Check out that cheat sheet at: . The HSCL also subscribes to Health Reference Center Academic, a database that may provide useful patient information. Although this database does not concentrate on genetic disorders, it contains medical information in general, some of which is genetic. Instructions in the use of HRCA can be found at: . HOW TO FIND CLINICAL GENETICS RESOURCES IN THE UF CATALOG ON WEBLUIS: The best way to find out which genetics books, periodicals, audiovisuals, etc. are available at the Health Science Center Library (HSCL) is to search the UF Catalog in WebLUIS. Because all of the materials that are housed in the HSCL are cataloged using MeSH terms, you may search for these materials using the same subjects that you use in PubMed. The only difference is that WebLUIS does not allow “exploding”; you would need to manually “explode” narrower topics by ORing them together. To search on MeSH terms in the WebLUIS UF Catalog: • Click on the Advanced search mode. •Change “keyword” to “Subjects, Medical” in the number of search boxes that you will be using. •Type in MeSH terms of interest. •Connect the search terms by clicking on the “OR” or “AND” radio button as appropriate. •[Submit search]. GENRESCLINICIANS.DOC MRT 2/02 12
  13. 13. If you need to combine more than three MeSH terms, you may follow the instructions above as many times as needed, click on History, and combine those searches with the appropriate operator. SELECTED ANNOTATED BIBLIOGRAPHY FROM THE HSCL Just to get you started, here’s a list of some excellent print resources available at the HSCL. Although these items are listed by category, there is substantial overlap in content among the categories. Human/Medical Genetics Textbooks: Clinical Genetics: A Short Course Wilson, Golder N.; 2000, 477 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 W748c 2000 A new arrival to the HSCL collection, this book provides a basic introduction to modes of inheritance, pedigree analysis, population genetics, genetic predisposition, cytogenetics, molecular genetics and particular classes of genetic disorders. Genetics concepts are presented through case presentations and patient-oriented problems. MIM numbers are used as references to the various disorders. The book includes a 12 page glossary and a companion web site ( provides access to supplementary material. Clinical Genetics: A Short Course is an excellent introduction for students and clinicians who have little knowledge of medical genetics. ****Emery and Rimoin’s Principles and Practice of Medical Genetics Rimoin, David L., et. al.; 3rd edition, 1997, 2 v., 2037 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 P957 This 2 v. set is written for practitioners and students and is a high quality encyclopedic reference. The resource begins with an excellent chapter on the history of medical genetics, and then covers basic principles such as gene structure and function, Mendelian inheritance, various genetic methods, mitochondrial genetics, etc. Section 2 concentrates on clinical applications and then covers disorders by medical specialty. Multiple tables, figures and photographs highlight the concepts and facts presented in the text. One of two indispensable advanced textbooks for clinicians (the other is Scrivner-see below). Genetic Basis of Human Cancer Vogelstein, Bert and Kenneth W. Kinzer; 1998, 731 pp. HEALTH SCIENCE CENTER LIBRARY QZ 202 G3297 1998 The preface notes that the revolution in cancer understanding can be summarized in one sentence: “Cancer is, in essence, a genetic disease”. This book brings together what is known about the genetic basis of various cancers, and is written by researchers in the field. Focusing on cancer genes, the book is divided into 4 sections: 1. Basic concepts in cancer genetics; 2. Cell growth (genetic and biochemical controls); 3. Cancers which have an identified mutation of a predisposing gene; and 4. Cancers where the mutation or the GENRESCLINICIANS.DOC MRT 2/02 13
  14. 14. gene are unknown. Each chapter begins with a numbered point-by-point summary. More advanced textbook than most of the resources described below. Human Genetics : A Problem-Based Approach Korf, Bruce R.; 1999, 396 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 K84h 1999 This book, written primarily for medical students, covers molecular, Mendelian, and quantitative genetics from a problem-based approach. Tutorial exercises, case studies and review questions are included. Family or patient “perspectives” are a unique element of this resource. The relevance of genetics to medicine is made clear through the book’s organization and use of the case studies. A good book for beginners. Human Genetics : Problems and Approaches Vogel, Friedrich, and Arno Motulsky; 3rd edition, 1997, 851 pp. HEALTH SCIENCE CENTER LIBRARY QH 431 V878h 1997 This book was written to “encourage critical thinking” on the part of the user. The author notes that new discoveries in genetics are “making genetics arguably the leading basic science for medicine”. This is an advanced textbook for upper level undergraduates and incoming graduate or medical students. Covers all aspects of human genetics from genetic diseases to population genetics to human gene evolution. Extensive references at the end of each of its 10 chapters. ****Human Molecular Genetics Strachan, Tom and Andrew P. Read. 2nd edition; 1999; 576 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 S894h 1999 This excellent introductory text is the class of the field in human molecular genetics and is equally useful for students, clinicians just learning about genetics, and anyone interested in medical genetics concepts as well as protocols and experimental methods. Begins with a short introduction to DNA, chromosomes, and pedigrees; moves on to molecular methods such as cloning, hybridization, PCR and sequencing, and then turns to the human genome, mapping of disease genes, genetic diseases and gene therapy. The book is extremely current (e.g., covers Microarrays and Bioinformatics), fairly easy to read, and emphasizes humans. Includes an excellent glossary; only 12 pages in length but definitions are substantial. Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases Pasternak, Jack J.; 1999, 498 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 P291in 1999 Written as a textbook for upper-level undergraduates and incoming graduate and medical students. This resource covers basic cytogenetics, Mendelian and molecular genetics, methods of mapping and other protocols, disease genes, and genetics of particular inherited disorders. Includes review questions at the end of each chapter. “Highlights from the Genetics Files” GENRESCLINICIANS.DOC MRT 2/02 14
  15. 15. provide summaries of hot genetics topics, such as genetic animal models, microarrays and genetics web resources. Includes a 31 page glossary with extremely short definitions. Medical Genetics Jorde, Lynn B., et al.; 2nd edition, 1999, 372 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 J82m 1999 Current but basic introduction to medial genetics written for undergraduates and incoming graduate/professional students. Includes a decent glossary (14 pp.) and study questions at the end of each chapter. Unique quality is the link to a companion web site ( that provides updates and supplementary information, including photographs. *******4 stars in Doodys - Thompson and Thompson Genetics in medicine 4th ed. Patient Care and Genetics: Birth Defects Encyclopedia Buyse, Mary Louise; 1990, 1892 pp. HSC Library Reference (Non-Circulating) QS 13 B619 1990 Although this is an older text, it is still considered a classic encyclopedia of birth defects. The subtitle of the book indicates that it is “The comprehensive, systematic, illustrated reference source for the diagnosis, delineation, etiology, biodynamics, occurrence, prevention, and treatment of human anomalies of clinical relevance”. The volume includes over 2000 short reviews of birth defects and syndromes, most with photographs of affected individuals. Child with Multiple Birth Defects Cohen, M. Michael; 2nd edition, 1997, 267 pp. (Oxford Monographs on Medical Genetics v. 31) HEALTH SCIENCE CENTER LIBRARY QS 675 C678c 1997 This book summarizes many of the multiple congenital anomaly syndromes known. It has been written to teach the principles of dysmorphology and how to diagnosis particular syndromes. Chapters 1 and 2 cover the vocabulary and concepts of dysmorphology, while later chapters cover particular disorders. Written primarily for clinicians and medical students. Table 11-2 is especially useful, as it lists other well known “Syndromology Textbooks”. Color Atlas of Congenital Malformation Syndromes Baraitser, Michael, and Robin M. Winter; 1996, 233 pp. HEALTH SCIENCE CENTER LIBRARY QS 617 B224c 1996 This atlas has been created to “help clinicians improve their immediate or gestalt recognition” of congenital malformation syndromes. Covers over 400 syndromes, with over 900 color photographs and over 1200 references. Very brief (a few sentences) discussion on the genetics of each disorder is included, if known. GENRESCLINICIANS.DOC MRT 2/02 15
  16. 16. Genetic Disorders and Birth Defects : A Compendium of AAP Guidelines and Resources for the Primary Care Practitioner American Academy of Pediatrics; 1997, 124 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 G3286 1997 Written for primary care physicians and pediatricians, this book is a collection of practice guidelines for genetic disorders; a “diagnostic and management resource” according to the authors. Contains sections/chapters on “Health Supervision”, “Newborn Screening Factsheets” and “Prenatal Genetic Diagnosis”. Genetic Disorders and the Fetus : Diagnosis, Prevention, and Treatment Milunsky, Aubrery, 4th edition, 1998, 1074 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 G3281 1998 Written for clinicians, the book “represents extensive critical discussion of the current and expected state of the art in practical genetic diagnosis”. Includes information on genetic counseling, risks associated with both testing and the disorders, genetic tests (molecular, cytogenetic and metabolic), and the medicolegal/ethical aspects of testing. Advanced text with hundreds, if not thousands of references. Introduction to Molecular Medicine and Gene Therapy Kresina, Thomas F. 2000. HEALTH SCIENCE CENTER LIBRARY QZ 50 I6187 2000 New to the HSCL. ****Metabolic and Molecular Bases of Inherited Disease (MMBID) Scriver, Charles R., et. al.; 8th edition, 2001, 4v., 6338 pp. HEALTH SCIENCE CENTER LIBRARY WD 200 S784m This massive 4 volume text has moved beyond the context of “inborn errors of metabolism” from previous editions; now “if there is an identifiable molecular explanation for the disease – and it affects a dynamic phenotype, metabolic or otherwise – then it is a candidate for inclusion” in this new edition. The text is encyclopedic in nature, with over 150 chapters (32 new ones in this edition). The first section of the book covers “general themes”, such as genetics and molecular basis of variant human phenotypes, human gene mutation, clinical phenotypes, Human Genome Project, and genetic imprinting. Subsequent sections cover cancer and genetics, chromosome and autosomes, carbohydrates, amino acids, organic acids, purines and pyrimidines, lipoproteins, membrane transport systems, etc. Multiple summary tables of disorders are presented. Concentrates on the underlying molecular/genetic bases of disorders, as well as diagnosis and management. MMBID is the premier reference in the subject. Molecular Biology in Medicine Cox, Timothy M. and John Sinclair; 1997, 340 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 M71828 1997 A basic introduction to molecular biology and molecular genetics covering all of the usual bases. Intended for clinicians and students new to these topics, GENRESCLINICIANS.DOC MRT 2/02 16
  17. 17. the book discusses many molecular/genetic techniques and how they are related to diagnosis and treatment of disease. Unlike many clinical genetics books, this resource also includes chapters on molecular aspects of bacterial and viral diseases, as well as the molecular basis of immunity. Practical Genetics for Primary Care Rose, Peter W. and Anneke Lucassen; 1999, 371 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 R797p 1999 British text written to help physicians acquire skills they need to evaluate patients and determine if testing is needed, make appropriate referrals, and discuss the genetic disorders with patients as well as their specialists. Easy to read. Discusses basic genetics and genetic basis of disease, diagnosis, criteria for genetic testing, genetic counseling and specific genetic disorders. Case histories and problems are presented. Prenatal Diagnosis & Reproductive Genetics Kuller, Jeffrey A. et. al.; 1996, 294 pp. HEALTH SCIENCE CENTER LIBRARY WQ 209 K96p 1996 Written for geneticists, ob/gyns and residents, this book covers such concepts as periconceptual counseling and intervention, clinical genetics and genetic counseling, maternal serum screening, sonographic evaluation, invasive testing, fetal treatment, and teratogens. The concepts are presented in a “Question and Answer” format, which makes for easy reading and focused discussion. Principles of Medical Genetics Gelehrter, Thomas D.; 2nd edition, 1998, 410 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 G316p 1998 Basic principles of genetics and molecular biology and applications to medicine. Authors indicate in their preface that the ”intent of Principles of Medical Genetics is to allow students and physicians to understand ongoing developments in genetics and apply them to patient care”. Covers mutation and disease, as well as the techniques of molecular diagnosis, the mapping of the human genome, and ethical issues dealing with the new technologies. This resource contains a useful glossary and study questions and answers. A good text for beginners. Principles of Molecular Medicine Jameson, J. Larry, 1998, 1123 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 P9573 1998 The introduction by Francis Collins notes that the book succeeds at “bridging the current gap between basic science and the bedside”. This resource is useful for both clinicians and researchers, and is more complete that either the Gelehrter or Jorde texts described above. In over 100 chapters the book covers the medical aspects of molecular biology and genetics. 10 early chapters introduce molecular medicine, and the remaining chapters are organized by particular organ system. The authors note that this organization is an effort to “translate the advances provided by genetics and molecular biology GENRESCLINICIANS.DOC MRT 2/02 17
  18. 18. into each of the major specialties of medicine”. The audience is described as sophisticated students, specialists seeking updates, and practicing physicians interested in learning about these new areas. Toward the 21st Century: Incorporating Genetics into Primary Health Care Touchette, Nancy, et. al.; 1997, 100 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 T737 1997 This resource includes reports from the 1st and 2nd Conferences on Genetics and Primary Care, sponsored by the Banbury Center at Cold Spring Harbor and the Robert Wood Johnson Foundation. The book also provides strategies to integrate genetics into primary health care and medical education. Contains an afterword by Dr. Francis Collins, discussing the impact of the Human Genome Project on health care. Basic Molecular Genetics Textbooks: ****Molecular Biology of the Cell Alberts, Bruce et. al., 1994, 3rd ed. HEALTH SCIENCE CENTER LIBRARY QH 581.2 M718 1994 HSC LIBRARY, Reference (Non-Circulating) QH 581.2 M718 1994 The class of the field in general molecular biology/molecular genetics text books. Covers everything from biochemistry, cancer, cell, and molecular biology, neuro- and immunobiology. Audience includes upper level undergraduates, graduate students, and medical students, but would be appropriate for clinicians wanting more information on the cellular and molecular basis of life. A new edition is eagerly awaited in 2001; we can’t keep the 1994 edition on the shelf. Protocols Analysis of Multifactorial Disease Bishop, T., and P. Sham, eds. 2000. 345 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 A529 2000 New to the HSCL. Approaches to Gene Mapping in Complex Human Diseases Haines, Jonathan L., and Margaret A. Pericak-Vance; 1998, 434 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 A653 1998 Although this book is written primarily for researchers, it can be useful for clinicians interested in the actual process of gene mapping. Starts off with a chapter on basic concepts in genetics, and then moves on to describe many of the protocols involved: linkage analysis, quantitative traits, family studies, collecting samples, genotyping, genetic screening, lod score analysis, sib pair analysis, linkage disequilibrium and gene identification. This is a fairly advanced and detailed text. The preface indicates that the book has grown out of a 4-day course taught by the editors since 1994. ****Current Protocols in Human Genetics 1994- GENRESCLINICIANS.DOC MRT 2/02 18
  19. 19. HSCL, Reference (Non-Circulating) QZ 50 C976 Primary resource on protocols in investigational clinical genetics. Includes protocols for genetic mapping, development of genetic markers, somatic cell hybrids, cytogenetics, large-insert cloning and analysis, identifying candidate genes in genomic DNA, searching candidate genes for mutations, clinical cytogenetics, clinical molecular genetics, cancer genetics, bioinformatics, vectors for gene therapy, delivery systems for gene therapy, and forensic genetics. Useful for clinical genetics researchers as well as clinicians interested in learning more about human molecular protocols. The protocols are updated several times a year. ****Methods in Molecular Medicine v. 1, 1996- HEALTH SCIENCE CENTER LIBRARY QH 506 M5924 This monographic series has now published through v.31. Each volume contains protocols on a particular disorder or method; recent titles have included Diagnostic Virology Protocols, Gene Therapy of Cancer: Methods and Protocols, Clinical Applications of PCR, Quantitative PCR Protocols, etc. Medical Education: Genetic Medicine : a Logic of Disease Childs, Barton.; 1999, 326 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 C537g 1999 Although the book has also been written for geneticists, public health workers and students, the primary audience is medical educators, who the author hopes will “effect a geneticization of medical thought”. Written in a historical context, the book synthesizes genetic and medical information; includes a detailed bibliography. Nursing: ****Clinical Genetics in Nursing Practice Lashley, Felissa R.,; 1998, 2ND edition, 543 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 L343c 1998 The author is a board certified Ph.D. medical geneticist who urges nurses to “think genetically” and integrate genetics concepts into their practice. Contains an introduction to basic genetics, major genetic disorders, assessing and interviews with clients and families, and the role of genetics in common situations (e.g., twins, cancer, diabetes). The book integrates Ethical, Social and Legal Implications (ELSI) into its discussion. Genetics Revolution: Implications for Nursing Lashley, Felissa R.; 1997, 46 pp.. HEALTH SCIENCE CENTER LIBRARY QZ 50 G3282 1997 Introduces nurses to the purpose and progress of the Human Genome Project and its implications for nursing practice. The six papers included were produced by an expert panel assembled by the American Academy of Nursing. GENRESCLINICIANS.DOC MRT 2/02 19
  20. 20. Programmed Instruction Series Cancer Nursing: 20(1): 62-75; 20(2): 129-151; 20(3): 213-226; 20(4): 285-300; 20(5): 359-377; 21(1): 57-75; 1997-1998. This six part self-learning module covers the following topics: Human Genome Project, genes and inheritance, genetic basis of cancer, genetic testing for cancer predisposition, clinical applications of genetic technologies to cancer care, and the role of the nurse in cancer genetics. Each module includes a list of learning objectives, a pre-test, expert-authored text on the particular topic, thought questions after each component and finally a post-test. An excellent introduction to genetics and its role in nursing practice. Genetic Counseling: Chromosome Abnormalities and Genetic Counseling Gardner, R. J. M., and G.R. Sutherland; 2nd edition, 1996, 478 pp. (Oxford Monographs in Medical Genetics v.29). HEALTH SCIENCE CENTER LIBRARY QS 677 G228c 1996 The preface indicates that the authors had two particular types of readers in mind – genetic counselors and cytogenetic laboratory workers. This new edition reflects the “evolution of cytogenetics to molecular cytogenetics” by describing much more of the underlying molecular processes than had the earlier edition. Covers chromosomal abnormalities such as translocations, inversions, insertions, autosomal rings, aneuploidy, etc. Particular abnormalities/ disorders are relegated to one of two sections: those in which the parents are normal but have an affected child; and those in which parents have the particular abnormality. Discusses genetic risk and screening. ****Calculation of Genetic Risks : Worked Examples in DNA Diagnostics Bridge, Peter J.; 1997, 2nd. edition, 222 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 B851c 1997 This book has been written primarily for genetics counselors and clinical geneticists, and covers Bayesian calculations, pedigree analysis, statistical approaches to gene mapping, and using DNA markers to predict genetic risk. The book contains numerous examples that can be worked through by readers. The author indicates that it has been “written to describe general approaches” so as to not become outdated. The class in the field in determining genetic risk. Practical Genetic Counselling Harper, Peter S.; 1998, 5th edition, 364 pp. HEALTH SCIENCE CENTER LIBRARY QZ 50 H295p 1998 The author notes that the object of the book is “to provide simple but useful information for clinicians in relation to the genetic problems that they might encounter in their practice. …this is not a book for specialists”. Discussions of particular genetic disorders are quite brief. The first half of the book discusses genetic counseling, and Mendelian, non-Mendelian, and molecular basis of disease; the second half concentrates on particular organ systems. Easy to read format. GENRESCLINICIANS.DOC MRT 2/02 20
  21. 21. Patient Information: Genetic Disorders Sourcebook Bellamir, Karen; 2000, 768 pp. HEALTH SCIENCE CENTER LIBRARY QS677 .G455 2000 A good first resource for patients. Easy to read very basic descriptions of genetic disorders. Includes several pages of resources (various support groups, foundations, associations), information on home care, genetic tests, and gene therapy. Covers over 30 of the more common genetics disorders. Understanding Gene Testing. HEALTH SCIENCE CENTER LIBRARY QZ 50 U55 1997 See description under Web pages. Syndrome Dictionaries: Jablonski’s Dictionary of Syndromes and Eponymic Diseases Jablonski, Stanley.; 1991 HEALTH SCIENCE CENTER LIBRARY, REFERENCE WB 15 J13i 1991 Dictionary of Medical Syndromes Magalini, Sergio I., and Sabina C. Magalini, 4th ed.; 1997 HEALTH SCIENCE CENTER LIBRARY, REFERENCE WB 15 M188d 1997 GENRESCLINICIANS.DOC MRT 2/02 21