Cancer Genetics Overview - National Cancer Institute


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Genetic Resources


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Genetic Resources

Health care providers who deliver genetic services, including genetic counseling can be located through local, regional, and national professional genetics organizations; through the NCI Web site Cancer Genetics Services Directory; and through the Gene Tests-Gene Clinics Web site. Providers of cancer genetic services are not limited to one specialty and include medical geneticists, genetic counselors, advanced practice genetics nurses, oncologists (medical, radiation, or surgical), other surgeons, internists, family practitioners, and mental health professionals. A cancer genetics health care provider will assist in constructing and evaluating a pedigree, eliciting and evaluating personal and family medical histories, and calculating and providing information about cancer risk and/or probability of a mutation being associated with cancer in the family. In addition, if a genetic test is available, these providers can assist in pretest counseling, laboratory selection, informed consent, test interpretation, posttest counseling, and follow-up. Please see the Table of Links at the end of this summary in printable view for the Genetic Resources URLs.

Clinical Genetics

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Resource	Description
GeneTests	Information for health professionals about hundreds of genetic tests and the laboratories performing those tests.
Human Genome Epidemiology Network (HuGENet)	Network for sharing population-based human genome epidemiologic information.
INFOGENETICS	Clinical practice tools.
Online Mendelian Inheritance in Man (OMIM)	Catalog of human genes and genetic disorders.

Consumer/Client: General Information

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Resource	Description
The DNA Files	Series of 14 1-hour public radio documentaries and related information.
Dolan DNA Learning Center Gene Almanac	Variety of educational resources, including an interactive DNA timeline.
FORCE: Facing Our Risk of Cancer Empowered	Provides support and information to individuals and families affected by hereditary breast and ovarian cancer through a toll-free help line, message boards, chat, and support groups.
Genetics Education Center	Material for educators.
Genetics Home Reference—National Library of Medicine	Consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
Genetic and Rare Diseases Information Center	Information service for the general public, including patients and their families as well as health care professionals and biomedical researchers.
Genetic Science Learning Center	Basic genetics, genetic disorders, genetics in society, and several thematic units.
The Human Genome Project: Exploring Our Molecular Selves	Downloadable modules or online viewing of The Human Genome Project, including milestones, a talking glossary, classroom activities, and a 3-D computer-animated video on basic molecular biology.
The National Cancer Institute’s Dictionary of Genetics Terms	Contains definitions for more than 100 terms related to genetics.
The New Genetics: A Resource for Students and Teachers	Links to genetics education resources.
Understanding Cancer Series: Gene Testing (from the National Cancer Institute)	Primer on genetic testing.

Ethical, Legal and Social Implications (ELSI), Policy, and Legislation

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Resource	Description
bioethics.net	Links to articles on genetics and bioethics.
Bioethics Resources on the Web	Links to bioethics resources.
Coalition for Genetic Fairness	Describes GINA’s protections including a history of the legislation, key examples, and definitions.
DNA Patent Database	Searchable database of U.S. DNA-based patents and patent applications issued by the U.S. Patent and Patent Applications Trademark Office.
Ethical, Legal, and Social Issues (from the Human Genome Project)	Information, articles, and links on a wide range of issues.
Genethics.ca	Information on the social, ethical, and policy issues associated with genetic and genomic knowledge and technology.
Genetics and Public Policy Center	Information on public policy related to human genetic technologies for the public, media, and policy makers.
Genome Technology and Reproduction: Values and Public Policy and Communities of Color and Genetics Policy Project	Two subprojects combined to form a 5-year project designed to provide policy recommendations based on public perceptions and responses to the explosion of genetic information and technology.
HumGen International	Comprehensive international database on the legal, social, and ethical aspects of human genetics.
NCSL (National Conference of State Legislatures) Genetic Technologies Project	Resources on a variety of genetics public policy and related issues for state legislators, legislative staff, and other policy makers.
National Information Resource on Ethics and Human Genetics	Links to resources and databases on ethics and human genetics.
National Information Resource on Ethics and Human Genetics: Annotated Bibliographies: Scope Note Series	Annotated bibliographies on various genetics and ethics issues.
National Human Genome Research Institute (NHGRI) Policy and Legislation Database	Searchable database of Federal and State laws/ statutes, Federal legislative materials, and Federal administrative and executive materials about privacy of genetic information/ confidentiality; informed consent; insurance and employment discrimination; genetic testing and counseling; and commercialization and patenting.
National Society of Genetic Counselors (NSGC) Code of Ethics	A statement to clarify and guide the ethical conduct of genetic counselors.
The President's Council on Bioethics	Reports, transcripts, and background material on current bioethical issues.
THOMAS Legislative Information (from Library of Congress)	Searchable database of U.S. legislation (current and previous Congresses).
Your Genes, Your Choices	Description of the Human Genome Project, the science behind it, and the ethical, legal, and social issues raised by the project.

Family History Tools

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Resource	Description
American Medical Association: Family History Tools	Tools for gathering family history and links to resources.
Family History: Resources and Tools	CDC’s Web site devoted to using family history to promote health.
National Society of Genetic Counselors: Your Family History—Your Future	Information on collecting a family health history.
U.S. Surgeon General’s Family History Initiative: My Family Health Portrait	Web-based family history tool, created by the office of the U.S. Surgeon General.

Genome Research

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Resource	Description
BLAST Search (part of the Ensembl Project; see below)	Search protein or DNA sequence against metazoan genomes.
The Cancer Genome Anatomy Project (CGAP)	Access to all CGAP data and biological resources.
CancerGenes	Combines gene lists annotated by experts with information from key public databases such as Entrez Gene, COSMIC, and iHOP.
Cancer Genome Workbench (CGWB)	Integrates clinical tumor mutation profiles with the reference human genome to improve the accuracy of mutation identification.
Chromosomal Variation in Man	Searchable database of literature citations on chromosomal variants and anomalies.
Ensembl (Joint software project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute)	Data sets resulting from an automated genome analysis and annotation process.
Genome Channel	Java viewers for human genome data.
Genome Sequencing Center: Homo sapiens Maps	Links to clone and accession maps of the human genome.
KMcancerDB	Human gene mutation database with graphical display of molecular information for cancer-related genes.
National Center for Biotechnology Information: Genomic Biology	Views of chromosomes, maps, and loci; links to other NCBI resources.
Online Mendelian Inheritance in Man (OMIM)	Catalog of human genes and genetic disorders.
International HapMap Project	A variety of ways to query for SNPs in the human genome.
UCSC Genome Bioinformatics	Reference sequence for the human and C. elegans genomes and working drafts for the mouse, rat, Fugu, Drosophila, C. briggsae, yeast, and SARS genomes.

Health Professional Practice and Education

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Resource	Description
Centre for Education in Medical Genetics	Develops, provides, and evaluates genetics education opportunities and resources.
Centre for Genetics Education	Education and service resources for patients and professionals.
Dolan DNA Learning Center Gene Almanac	Interactive multimedia genetics education resources.
Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics	Establishes minimum basis to prepare the nursing workforce to deliver competent genetic and genomic-focused nursing care. Created by consensus panel in 2005.
GenEd Project	Information about the project, news, and links to previously published research on European aspects of genetic services.
Genetics in Clinical Practice: A Team Approach	Interactive virtual genetics clinic with case scenarios and case discussions. Target audience is primary care professionals.
Genetics Education Center	For educators interested in human genetics and the Human Genome Project.
Genetics Education Program for Nurses (GEPN)	Sample genetics nursing course syllabi and other genetics educational opportunities and resources for nurses.
Genetics in Primary Care	Training program curriculum materials.
Genetics in Psychology	American Psychological Association's genetics site.
Genetics and Your Practice	Online modules for health care professionals designed for exploration of a topic rather than a sequential presentation of material. Includes fact sheets and sample clinical forms. Free registration required for access.
Medical School Core Curriculum in Genetics	Medical school course competencies, skills, knowledge, and behaviors that should be covered in a genetics curriculum developed by the Association of Professors of Human and Medical Genetics and the American Society of Human Genetics.
National Coalition for Health Professional Education in Genetics (NCHPEG)	Core competencies in genetics and reviews of education programs. Descriptions of available instructional resources, courses, and institutes.
Six Weeks to Genomic Awareness	Webcast of six lessons in genomics for public health professionals.

Institutional Review Boards (IRBs)

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Resource	Description
Genetic Testing and Screening in the Age of Genomic Medicine. New York State Task Force on Life and the Law.	Includes general and state-specific information in a bulleted report.
Pharmacogenetics: Ethical Issues. Nuffield Council on Bioethics.	Includes a section discussing the use of pharmacogenetics in clinical trials.
Protecting Human Research Subjects Institutional Review Board Guidebook, Chapter V, Section H: Human Genetic Research. Office for Human Research Protections.	Discusses many issues that continue to challenge IRBs investigators, and policy makers today.

Professional Organizations: Genetics

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Resource	Description
American Board of Genetic Counseling (ABGC)	Information about certification of genetic counselors.
American Board of Medical Genetics (ABMG)	Information about medical genetic training programs and certification of geneticists.
American College of Medical Genetics (ACMG)	Resources, policy statements, and practice guidelines about medical genetics.
American Society for Human Genetics (ASHG)	Resources, projects, and policies concerning human genetics.
Genetics Nursing Credentialing Commission (GNCC)	Information about credentialing of genetics nurses.
Genetics Society of America (GSA)	Links to teaching Web sites, general educational courses, and journals and publications about genetics.
International Society of Nurses in Genetics (ISONG)	Resources to help nurses incorporate new knowledge about human genetics into practice, education, and research.
National Society of Genetic Counselors (NSGC)	Information about genetic counseling: practice guidelines, links to genetic counselors, and genetic discrimination resources.

Risk Assessment

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Resource	Description
Harvard Center for Cancer Prevention: Your Disease Risk	Personalized estimation of cancer risk and tips for prevention.
JamesLink: Personalized Cancer Risk Assessment	Interactive tool that estimates cancer risk by reviewing patterns of cancer in a family.
My Generations	Interactive tool that estimates cancer risk by reviewing patterns of cancer in a family.
National Cancer Institute: Breast Cancer Risk Assessment Tool	Interactive tool for estimating a woman's risk of developing invasive breast cancer.
National Cancer Institute: Melanoma Risk Assessment Tool	Interactive tool for estimating an individual’s absolute risk of developing melanoma.

Online Gene Mutation Prediction Programs

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Resource	Description
HuGE Risk Translator	Calculates the predictive value of genetic markers.
MRC Human Genetics Unit, Edinburgh	Predicts the likelihood of mutations in one of the mismatch repair genes in persons with colon cancer.
The Penn II Risk Model	Estimates the probability that an individual has a BRCA1 or BRCA2 mutation.
PREMM1,2 Model: Prediction Model for MLH1 and MSH2 Gene Mutations	Estimates the probability that an individual carries a mutation in one of the mismatch repair genes.

Search Engines Specializing in Genetics and Genomics

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Resource	Description
Genetics Resources on the Web (GROW)	Information related to human genetics, with a particular focus on genetic medicine and health.
Georgetown University: National Information Resource on Ethics and Human Genetics	Search engine for literature on specific issues related to ethics and human genetics.
HuGE Navigator	An integrated, searchable knowledge base of genetic associations and human genome epidemiology.

United States Government Agencies

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Resource	Description
Centers for Disease Control and Prevention: National Office of Public Health Genomics	Information on how human genomic discoveries can be used to improve health and prevent disease, including links to many resources.
Department of Energy Office of Science: genomics.energy.gov	Genomics educational resources.
Department of Health and Human Services	Links to publications and materials available for purchase or download from the HRSA Information Center.
Genetic Modification Clinical Research Information System (GeMCRIS)	Information about human gene transfer trials registered with NIH.
National Cancer Institute	NCI’s summaries of cancer genetics–related information.
National Human Genome Research Institute	Research, policy, ethics, education, and training information and resources about genetic and rare diseases.
National Institute of Environmental Health Sciences (NIEHS): Environmental Genome Project	Information on project to improve understanding of human genetic susceptibility to environmental exposures.

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