University of Florida
Health Science Center Libraries
Genetics Resources for Clinicians
Michele R. Tennant
MINIMUM COMPETENCIES EXPECTED:
•Internet browser familiarity
•Experience searching bibliographic databases (preferably MEDLINE)
•An interest in genetics!
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
•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.
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
GENRESCLINICIANS.DOC MRT 9/02
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
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
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
Gene Cards: Human Genes, Proteins, and Diseases
http://bioinformatics.weizmann.ac.il/cards/ (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
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
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
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 InTouchLive.com 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
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
NEWS AND COMMUNICATION WITH COLLEAGUES:
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
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
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
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
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
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.
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
& 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:
“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)
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.
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
http://www.library.health.ufl.edu/irc/Catalog/Health_Specialties/Genetics_--_Clinical/ If you are
also interested in “researchy” type genetics resources, check out the IRC at:
GENRESCLINICIANS.DOC MRT 2/02 9
To learn how to evaluate the quality of sites on the web, see the HSCL’s online
tutorial at http://www.library.health.ufl.edu/help/webevaluation.htm .
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 http://www.ncbi.nlm.nih.gov/PubMed/ .
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
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:
•Subject terms are identified through a Thesaurus and applied to the citations by
•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
•Search using textword rather than subject.
•No specified vocabulary; user tries to match search string to terms used by the
•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.
GENRESCLINICIANS.DOC MRT 2/02 10
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).
Cell Cycle G5.148.165+
Cell Division Phases G184.108.40.206.225+
Chromosome Segregation G220.127.116.11.235
Chromosome Aberrations G5.148.266+
Chromosome Breakage G5.148.266.280
Genes, abl G5.275.740.791.100
Genetics, Medical G5.358+
Genetic Counseling G5.358.493
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
“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
http://www.library.health.ufl.edu/pdf/PubMed.pdf , and the HSCL’s PubMed
tutorial: http://www.library.health.ufl.edu/PubMed/PubMed2/index.html .
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: http://www.library.health.ufl.edu/pdf/cinahlweb.pdf .
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
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
GENRESCLINICIANS.DOC MRT 2/02 12
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 (http://www.wiley.com/wilson) 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
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
gene are unknown. Each chapter begins with a numbered point-by-point
summary. More advanced textbook than most of the resources described
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
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
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.
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
(http://medgen.genetics.utah.edu) 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
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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
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
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
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
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.
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
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.
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.
****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
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.
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.
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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.
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