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Health Provider Genetics Resources


Genetics Education Resources for Practitioners:


Genetic Alliance & ASHG: “Guide to Understanding Genetics” (June 2006) – A group of experts from Genetic Alliance and ASHG worked in partnership to create a straightforward guide for the general public, health care providers, and their patients. The guide covers basic information about genetics concepts and provides in-depth information about genetic conditions, newborn screening, family-history gathering, genetic counseling, as well as an overview of different types of genetic tests and their applications.


The American College of Medical Genetics (ACMG) - ACMG is the sister organization of ASHG that is responsible for providing education, resources and a voice for the medical genetics profession. ACMG also strives to make genetic services available to the public to improve health.


Association of Professors of Human and Medical Genetics (APHMG) - APHMG is a group of organizations that promotes human and medical genetics educational programs in North American medical and graduate schools. More than ninety institutions are now official members of the Association.


Public Health Genomics at CDC - The CDC/NOPHG Web site provides a wealth of genetics materials and resources containing information for health care professionals and the general public, including:

CDC Genomics Fact Sheets:

CDC Genomics Reports:

CDC Genomics Tools:

CDC Review (Journal Article):

GeneTests - An NIH-funded medical genetics information resource developed for health care providers and researchers as a current, authoritative source of information on genetic testing and its use in diagnosis, management and genetic counseling. The following slide presentations are of interest to healthcare providers:

Genetic Tools – This offshoot of the GeneTests Web site (see above) provides background information, teaching cases, and links to educational resources for teaching health care providersabout genetics in primary care settings.

The American Medical Association (AMA) - The AMA Web site provides a wealth of genetics information, materials and CME program resources that inform health providers about the basic science of genetics, and describe how knowledge gained from research advances and discoveries in the field can be applied to general medical practice. Some genetics resources of interest featured on the AMA Web site include the following:

The American Academy of Family Physicians (AAFP) - The AAFP genomics Web site provides medical genetics resources to teach physicians how to communicate accurately and effectively with patients and the public about the clinical, legal, social and ethical issues involved in this rapidly-growing area of medicine.

University of Washington Center for Genomics & Public Health - This Web site offers a wealth of genetics information and resources for providers, organized by subject area or topic. This site covers the following topics in depth: genetic testing, family history, genetics of specific health disorders, and education and training resources. Some items of interest to health professionals include:

Genetic Alliance: “Understanding Genetics: A Guide for Patients and Professionals” - The Genetic Alliance (a non-profit organization that supports genetics policy and advocacy efforts) created an online guide to understanding genetics that covers basic scientific concepts and provides information about diagnoses of genetic conditions, family-history gathering, newborn screening, genetic counseling and genetic testing types and applications. The content in this guide focuses on patient care, genetic services and patient/provider education.


Children’s Hospital of Eastern Ontario (CHEO): “Clinical Services - Genetics Resources” – The CHEO Web site features a comprehensive list of links to online genetics resources of interest to health care practitioners.



Helpful "Quick Reference" Resources for Practitioners:


Genetic and Rare Diseases Information Center (GARD) – Established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD), GARD employs experienced information specialists to answer questions from the general public – including patients and their families, health care professionals and biomedical researchers. Please see the following professionally produced resource materials that describe the services GARD offers to health providers:

  • "Genetic and Rare Diseases Information Center Brochure" – This resource provides basic information about genetic and rare diseases and a brief description of the services that the GARD offers. The brochure also features a brief overview on genes and genetic diseases.

  • "About GARD Postcard" – A handy card that provides contact information for the Genetic and Rare Diseases Information Center's team of experienced information specialists.

National Library of Medicine (NLM) Genetics Home Reference - An online guide to understanding genetic conditions that provides consumer-friendly information about the effects of genetic variations on human health.


Genetics Resources On the Web (GROW) - The GROW search engine is an online resource that optimizes the use of the web to provide health professionals and the public. The search engine features high quality information related to human genetics, with a particular focus on genetic medicine and health.


INFOGENETICS© - This online resource is designed to assist health practitioners in the daily care of their patients by providing updated information about the application of genetics and testing in clinical care.


Emory Department of Human Genetics: Genetics Fact Sheet Series - The Emory Human Genetics Dept. Web site features a series of fact sheets for healthcare professionals that provide disease-specific information on human genomics and the application of genetic research and testing in clinical practice.


March of Dimes: “Genetics & Your Practice” - The resources on this Web site provide practical information and materials to assist the busy professional in integrating genetics into their patient care. The Web site includes customized information for providers working with the following patient types: preconception/prenatal, infants/children, and adolescents/adults.



Medical Genetics: Incorporating Genetics in Clinical Practice:


ASHG Fact Sheet on Medical Genetics - This ASHG fact sheet provides basic background information about medical genetics and defines terms that are commonly used in the field.


ASHG & APHMG Education Guidelines: “Medical School Core Curriculum in Genetics” - ASHG and APHMG developed this resource to provide guidance to deans and curriculum program committees regarding medical genetics knowledge, skills and behaviors that all current medical students will need during their careers as physicians.


ASHG & Duke Institute for Genome Sciences & Policy (IGSP): “Preparing Physicians to Practice Genomic Medicine” - This commentary from the June 2004 issue of Medical Device Link / IVD Technology was co-authored by ASHG’s Executive Vice President, Dr. Joann Boughman. This article describes the integration of new genomic technologies into clinical practice and the impact that this process will have on the IVD industry.


ACMG Information Sheet: “Graduate Education in Medical Genetics” - ACMG created this educational resource to provide background information on careers in medical genetics and outline the necessary training and certification programs for working in this field.


ACMG Genetics CME Program Materials: “ACMG Basics: Genetics for Providers” – ACMG created this set of genetics CME program materials and activities to give health practitioners a basic understanding of genetic science, and to educate them about the genetics of common complex disorders, pharmacogenetics, and other information relevant to the application of genetics in health care practice.


National Human Genome Research Institute (NIH/NHGRI): “Physician Assistant Competencies for Genomic Medicine: Where We Are Today and How to Prepare for the Future” (March 2007) - Physician Assistants (PAs) are a vital part of the medical team and are thus well-positioned to integrate existing genomic tools into current practice. This NHGRI meeting summary outlines the recommendations for ways that PAs can utilize current and anticipated knowledge of genetics as the basis for improving clinical care, and how they can make personalized medicine a regular part of patient care.


Genetics in Primary Care (GPC): "Training Program Curriculum Materials” - The case studies and other materials included in this resource are designed to serve as a bridge between genetics and primary care. This series of case studies is intended to serve as a model for engaging medical students’ and residents’ interest in genetics topics. The topics selected for the case studies are based on the eight core areas of primary care practice.


Mayo Clinic: “Incorporating Genetic Counseling Into Primary Care Practice” - This article by Mayo Clinic researchers was published in the April 2006 issue of Resident and Staff Physician. The authors emphasize that genomics is critical to the delivery of effective health care and preventive medicine for all patients. They propose that primary care physicians require more education about genomics and the value of genetic counseling in patient care.


Dartmouth Medical School: “Genetics in Clinical Practice: A Team Approach” - The CME program resources featured on this website are intended for health care providers who see patients that may have genetic disorders and/or risk factors for developing such disorders. The resources from this CME program provide information about genetic testing and other basic clinical genetics concepts. They also explain how knowledge of clinical genetics can positively affect patient health outcomes and improve disease prevention and treatment methods on a larger scale.



Personalized Medicine & Pharmacogenetics Resources:


Personalized Medicine Coalition (PMC) - ASHG is a member of this independent, non-profit group that works to advance the understanding and adoption of personalized medicine for the ultimate benefit of patients.

Diseases, Genetics and Family History at CDC  - This CDC site features information and materials on the public health perspective of Pharmacogenetics.


National Center for Biotechnology Information (NIH/NCBI): “One Size Does Not Fit All: The Promise of Pharmacogenomics” - The NCBI Web site provides a summary of the key issues and challenges related to the advancement and adoption of personalized medicine that are commonly encountered by legislators, health care professionals and consumers.



Genetic Testing Resources:


ASHG Position Statement on Direct-to-Consumer (DTC) Genetic Testing (Jan. 2007) – ASHG drafted this policy statement to set forth the basic principles and guidelines that should govern all health-related genetic tests that can be ordered directly by a consumer, and whose results are reported DTC without an independent health care provider.


National Human Genome Research Institute (NIH/NHGRI): "Overview of Genetic Testing" - This Web site provides information for health providers and the general public that explains the implications and proper use of genetic tests. Resources of interest include: 

U.S. Federal Trade Commission (FTC): “At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Perscription” - This FTC fact sheet provides guidelines for interpreting test results and evaluating companies’ claims about the validity and accuracy of direct-to-consumer genetic testing products.


Mayo Clinic: “Genetic Testing for Genetic Disorders: Weighing the Benefits and Risks” - This online guide that provides consumers with a basic understanding of the “pros” and “cons” of genetic testing, and the implications for individuals at risk of inheriting a genetic disease. Also see the Mayo Clinic resource titled, “Genetic Testing: What to Expect” for more information.



Family History Resources for Practitioners:*


The American Society of Human Genetics (ASHG):

U.S. Surgeon General’s Family History Initiative:

CDC National Office of Public Health Genomics (NOPHG) Family History Resources:

Genetic Alliance: Community Centered Family Health History (CCFHH) Brochure Series - This series of brochures contains helpful information about the importance of family health history in determining disease risk. The brochures provide patients with simple step-by-step instructions for collecting and compiling a family health history; they also provide guidelines for health care providers explaining how to effectively interpret and use this information in clinical practice.

ASHG Health Care Provider Guide: “Family History Law: Guidelines for Health Practitioners” - ASHG helped write this guide for medical and health professionals that highlights the core ethical and legal challenges they must consider when utilizing family health history and other genetic information in clinical practice. This resource also provides information and guidelines for legal issues such as patient confidentiality, informed consent and genetic discrimination.   




Glossaries & Definitions of Genetics Terms:


University of Kansas Medical Center: “Glossaries of Genome/Human Genetics Terms” - This Web site features a comprehensive list of links to online genetic glossary and dictionary resources.


Genetic Alliance: “Alphabet Soup: Genetic Terms & Acronyms for Consumers” - This resource features an alphabetized list of the names and acronyms of key genetics organizations, as well as a glossary with definitions of basic genetics terms.



Audio Clips & Podcasts:


Interview with Muin Khoury (CDC) on Personal Genomics Services Being Offered Directly to Consumers

The New England Journal of Medicine - Jan 10, 2008

Dr. Muin Khoury, MD, PhD discusses the potential benefits and risks involved in the applications and use of direct-to-consumer genetic testing. Dr. Khoury is the director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC), and an active member of the ASHG Executive Board.

CDC Featured Podcast: "Family History - An Early Warning for Your Child"
The CDC’s National Center on Birth Defects & Developmental Disabilities - Nov 28, 2007

Dr. Paula Yoon and Dr. Tracy Trotter from the CDC address the use of family health history information in pediatric settings. This podcast speaks to both practitioners and parents in describing how “collecting family history information could save your child's life.” Parents should listen to learn more about how knowing this important information could benefit the entire family.



Presentation Resources:


ASHG Presentation: “Genetics Education & Training for Health Care Professionals” (Oct. 2003)
Dr. Joann Boughman, PhD, ASHG Executive Vice President

CDC Presentation Resources: “Genomics and the Future of Public Health” Symposium - A series of slide and video presentations from the CDC’s symposium held on May 5, 2003; features digital clips of presentations by ASHG members, including:

  • Dr. Francis S. Collins (Director, National Human Genome Research Institute, NIH)

  • Dr. Muin J. Khoury (Director, National Office of Public Health Genomics, CDC; ASHG Executive Board Member, 2006-2009)


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