Medical Genetics for the Health Professional

Please send any comments concerning this page to Pamela Bagley.


​Disease Information

Resources providing topic reviews
  • UpToDate - An expert-authored, peer-reviewed medical information resource for health care professionals designed to address health-related inquiry at the point of care. It provides information on genetics as it relates to specific diseases such as breast and colon cancer. It provides information and resources in areas such as screening, treatment, and counseling options. Accessible to DHMC and Dartmouth community only. (Access Restrictions: UpToDate is licensed for on-site use only at Dartmouth College, Dartmouth Medical School, and the Dartmouth-Hitchcock Medical Center. Remote access is not permitted.)
  • E-Medicine - This resource provides authored, peer-reviewed topic reviews of diseases for physicians. It presents the contributions of nearly 10,000 physicians with a knowledge base of about 7,000 diseases and disorders. E-medicine also contains a multimedia file of nearly 30,000 images and related resources. Access to topic reviews is free.
  • OMIM - Online Mendelian Inheritance in Man is a database of human genes and genetic disorders compiled to support research and education and the practice of clinical genetics. The topic reviews in OMIM are written and edited at Johns Hopkins University with input from scientists and physicians around the world. OMIM can be searched by gene name or disease name or symptoms. Limiting retrieval to reviews that include "Clinical Synopsis" will increase the focus of information for clinical application.
  • GeneTest/GeneClinics - This site provides a directory of genetic testing laboratories and clinics providing diagnosis in prenatal, pediatric, and adult onset genetic based diseases. The directory currently has about 950 laboratory listings and about 1000 clinics.
  • GeneSeeker - With this resource you can search in different databases simultaneously, given a known human genetic location and expression/phenotypic pattern. The GeneSeeker returns any found gene names wich are located on the specified location and expressed in the specified tissue.
Practice Guideline Resources - Clinical practice guidelines are systematically developed statements to assist practitioners' decisions about appropriate health care for specific clinical circumstances. Guidelines are usually produced by a medical specialty association or relevant professional institution. A clinical practice guideline developed by an individual not officially sponsored by a professional organization, should be suspect and carefully considered before application.
  • The National Guideline Clearinghouse - This site is a comprehensive database of evidence-based clinical practice guidelines and related documents produced by the Agency for Healthcare Research and Quality, in partnership with the American Medical Association and the American Association of Health Plans.
  • National Comprehensive Cancer Network - This site is a cooperative effort between health care professionals, payer/providers, and patients. It provides cancer treatment and practice guidelines, a directory of hospitals, a physician referral service, as well as news and links to related cancer specific support sites. Access to this site is free, but registration is required.
  • National Cancer Institute - A federally funded agency providing direction and support in cancer care and research. It provides a wealth of information including monthly updated treatment guidelines and a database of clinical trials. Select the Cancer Information section. Genetic information is provided within the context of many treatment guidelines and screening information.
  • Breast Cancer Risk Assessment Tool - An interactive tool to measure a woman's risk of invasive breast cancer. Scientists at the National Cancer Institute and the National Surgical Adjuvant Breast and Bowel Project Biostatistics Center have developed this Web- based tool to allow health professionals to project a woman's estimate of risk for invasive breast cancer over a 5-year period and over her life time. The site also provides additional information related to prevention and risks of breast cancer.
  • American Society of Clinical Oncology (ASCO) - Provides clinical practice guidelines.
  • Guide to Clinical Preventive Services, 2nd Edition, 1996
    An independent panel of experts in primary care and prevention that systematically reviews the evidence of effectiveness and develops recommendations for clinical preventive services. This Web site provides the latest available recommendations on preventive interventions: screening tests, counseling, immunizations, and chemoprophylactic regimens for more than 80 conditions. The 3rd edition of the Guide to Clinical Preventive Services, 2000-2003, will update the recommendations from the 2nd edition and evaluate additional new topics. Reviews and recommendations will be added to this Web site as they are completed.
  • National Society of Genetics Counselorsprovides clinical practice guidelines.

​Genetic Testing and Counseling Information

Laboratory Testing and Clinic Directories
  • GeneTests.org - This site provides a directory of genetic testing laboratories and clinics providing diagnosis in prenatal, pediatric, and adult onset genetic based diseases. The directory currently has about 950 laboratory listings and about 1000 clinics.
  • Lab Tests Online - Lab Tests Online has been designed to help you, as a patient or caregiver, to better understand the many clinical lab tests that are part of routine care as well as diagnosis and treatment of a broad range of conditions and diseases. The site is the product of a collaboration of professional societies representing the lab community.
Genetic Counseling Services

​Ethical, Legal, and Social Information

Associations

​Basic Genetic Information

Tutorials
  • Genetics in Clinical Practice - This video/computer graphics interactive program, developed by Dartmouth's Interactive Media Laboratory, recently won the 2002 Electronic Multi-Media Award. The tutorial is designed to help primary care physicians develop an understanding of when to use genetic services. The participant is coached through the evaluation and treatment of a variety of patients each with a specific genetic related inquiry or condition. Within this context, topics related to hereditary cancer, prenatal screening, and genetic diseases in children and in adults, such as hemochromatosis, are presented. A genetics testing laboratory is provided to introduce physicians to concepts of genetic testing. A virtual learning resource center is also available to allow physicians to explore related topics and consult with specialists such as genetic counselors. The program can be accessed on CD or via high speed internet connection.
  • DNA from the Beginning - An animated primer on the basics of DNA, genes and heredity. Produced by the Dolan DNA Learning Center, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.
  • Genetics and Molecular Medicine - This AMA site provides primary care physicians with information on genetic fundamentals, policy issues, and related patient care issues.
  • Genetics Home Reference - provides consumer-friendly information about the effects of genetic variations on human health.
Case Studies
  • Genetics in Primary Care; A Training Program - The materials on this site are designed to serve as a bridge between genetics and primary care. The modules present a series of topics in the format of selected case studies. The cases are representative of patients seen in primary care and demonstrate methods for handling issues related to the genetic basis of these diseases. Diseases such as breast and ovarian cancer, cardiovascular disease, colorectal cancer, congenital hearing loss, dementia, developmental delay, and hemochromatosis are included.
Current Awareness Techniques
  • The publisher Web sites often have e-mail alert services. Registered users can receive the table of contents of new issues as soon as they are added to the publishers site.
Metasites

​Patient Information