Genetics Overview

Rapid advances in human genetic testing and technologies have presented new and complex clinical management, ethical, legal and social issues (ELSI) for individuals and society. Unfortunately, advances in testing and diagnosis of new disorders often outpace therapeutic options for treatment. Pharmaceutical and diagnostic test companies have begun marketing their products to patients often by developing fear messages about risks and benefits of diagnosis or treatment of genetic diseases. Patients, sensitized to these messages seek out information from a variety of sources about genetic diseases.

Primary care physicians are often the first to interact with patients seeking information, testing, diagnosis or treatment of genetic disorders and predispositions. Yet our training in managing genetic conditions and exploring the ethical, legal and social implications of genetic related information may be inadequate. From a primary care standpoint, we focus on genetic information that is relevant in three broad categories: genetic diagnosis, use of predictive genetic testing, and use of genetic testing for reproductive decision-making.

Innovative Learning Tools

This eDoctoring program is composed of three interconnected tools that develop skills in patient-physician communication and counseling related to ELSI issues in genetics, including communication within families about genetic risk and managing the primary care and medical genetics interface.


Learners follow a clinical case presented in segments comprised of video and interactive components that provide instant feedback on learner responses. Each case is narrated by a professor and two clinical doctors who discuss various aspects of the case.

 Case List

Alzheimer Disease (Henry Wong): A family's concern about their 70-year-old father's forgetfulness brings up issues related to ApoE genetic testing for Alzheimers. Learners deal with issues regarding medical management of alzheimers, consent for testing, truth-telling, direct-to-consumer marketing of tests, and screening for illness.

Androgen Insensitivity Syndrome (Cathy Jenkins): A 17 year-old female presents with primary amenorrhea. Learners deal with conflicts around issues of gender, disclosure, emancipation and medical management.

Breast Cancer (Amy Magyar): A 31 year-old female visits her physician shortly after her sister has been diagnosed with breast cancer and a BRCA mutation. They discuss testing and treatment options.

Colon Cancer (Khalid Muhammad): A 25 year-old Muslim man with a family history of colon cancer explores with his primary care physician issues related to screening for genetic causes of the cancer. Learners deal with issues related to screening, life style changes, cultural/religious beliefs, and utilization of genetic counselors.

Cystic Fibrosis (Amanda Hayes): A newborn infant presents with meconium ileus; issues related to genetic testing, alternate paternity, truth telling, and medical management are explored.

Down Syndrome (Beth Bradley): Two different cases are presented with abnormal maternal serum screen results. Test interpretation, cultural beliefs around testing, medical management of test results, and potential benefits and harms of prenatal screening are discussed.

Huntington Disease (Kate Bristol): A 16-year-old female is upset because her grandfather has just been diagnosed with Huntington disease. She wants to be tested for the disease against her motherís wishes. A discussion around benefits, harms and emancipation ensues.

Inherited Thrombophilia (Candace Ewing): A resident consults with his attending about how to manage a patient who presents with venous thrombosis. Learners deal with issues related to genetic testing for factor V Leiden, non-genetic risk factors, pre/post test probability and the medical management of venous thrombosis in various clinical settings.

Klinefelter Syndrome (Ronnie Gonzalez): A 14-year-old male experiences embarrassment because his breasts are large. Upon examination, the physician suspects Klinefelter syndrome. Issues arise regarding medical management, disclosure, testing and psychological support.


Learners are exposed to content specific information that focuses on teaching one concept or skill. Learners can interact with tutorials independently of the cases, although they often expand on topics that are presented in the cases. The tutorials are housed in the library with other resources such as journal articles, links, videos, downloadable practice guides and other tools.

 Tutorial List

Culture: This tutorial introduces learners to various concepts related to culture and medical care.

Genetics 101: This tutorial covers the uses of genetic testing, the testing paradigm, as well as genetic terms and concepts.

Maternal Fetal Serum Screening: This tutorial outlines the characteristics and risk of Down Syndrome and maternal serum screening procedures.

Medical Ethics: This tutorial uses common clinical cases to review concepts in medical ethics and discusses basic legal principles in medical practice.

Screening for Disease: This tutorial provides the background and theory around screening for a disease when there are no clinical symptoms.

Shared Decision Making: This tutorial addresses the meaning and importance of shared decision making and explores the skills needed to engage in effective shared decision making.


Allows users and staff to track progress, apply their learning to clinical practice and interact with other learners in the eDoctoring course.

 Portfolio Tools

Module Progress
Displays progress on assigned and optional modules; allows for printing of certificate of completion.

Contains resources related to EOL care including tutorials, journal articles, web resources, tools, case videos.

Action Planning Tool
Learners are given the opportunity to apply lessons they've learned in the cases and tutorials to their own clinical practice. Faculty can access and review the plans created by the learners in their course.

Learning Community Feature
The Learning Community is a forum where users can share their comments and reflections with other learners or faculty enrolled in eDoctoring.


 Further Information

Course Director (PI)

Michael Wilkes, M.D., Ph.D.

Content Authors

Wylie Burke M.D., Ph.D., Julie Culver, M.S., Frank C. Day, M.D., M.P.H., Douglas Diekema M.D., M.P.H., Cynthia Dolan, M.S., Tonya Fancher, M.D., M.P.H., Geri-Ann Galanti, Ph.D., Michael Green, M.D., M.S., Kelly Fryer-Edwards, Ph.D., Jerome R. Hoffman, M.D., Richard Kravitz, M.D., M.S.P.H., Roberta A. Pagon, M.D., Linda Pinsky, M.D., Ben A. Rich, Ph.D., Stuart Slavin, M.D., Tahlia Spector, M.D., Malathi Srinivasan, M.D., Daniel Tancredi, Ph.D., Neil S. Wenger, M.D., M.P.H.


Daniel Tancredi, Ph.D., and Erin Griffin, Ph.D.

Project Staff

Joanne Caulfield, Christine Harlan, J.D., Jerilyn Higa, M.S., Polly Latow, M.S., Susan Trinidad, M.S. and Devin Rifkin

Web Development Team

University of Newcastle upon Tyne: Paul Drummond, Andrew Fanning, Dan Plummer

Video Production

Geoffrey Haley and Michael Wilkes, M.D., Ph.D.

Funding provided by
Dept of Health and Human Services National Institutes of Health HRSA National Human Genome Researh Institute