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Our understanding of the contribution of gene mutations to disease is changing rapidly. However, as stated in one report, “many health care and public health professionals lack sufficient knowledge about the application and interpretation of genetics in the clinic or in the community” (Shirts & Parker, 2008). Additionally, primary care physicians face increasing demand to counsel patients about the benefits and limitations of genetic testing, a role which has not traditionally been part of a primary care practice.

Course Goal

The goal of this course is to help your learners answer the question:
  • When is genetic testing to assess cancer predisposition appropriate and what considerations guide how you counsel patients on the benefits, limitations, and potential risks of genetic testing?
The course is divided into lessons or chunks that will allow learners develop their understanding of the different aspects of this question.

Course objectives can be found in the Resources section of this module.

Your learners

Your learners will be primary care physicians (PCPs) and while these physicians do not specialize in genetics and genetic testing,
most patients (71%) will come to their PCP first with questions about genetic disorders (AMA, 1998). Therefore, although your learners will typically refer patients to genetic specialists when a patient is at moderate to high risk for a hereditary cancer, they need to be able to identify patients who should be referred and need to understand the important issues involved in ordering a genetic test if they take on the responsibility of ordering such a test prior to referral.

Additionally, referral to a genetic specialist does not end the role of the primary care physician in the patient's genetic issues. The primary care physician typically remains responsible for follow-up care, specifically, enhanced screening, and referrals for risk-reducing interventions and treatment (should the patient begin to show symptoms). In the case of risk-reducing interventions, the primary care physician will play an important support role in aiding the patient to make decisions regarding their health care strategy.

How this course is different

This course is unlike traditional continuing medical education (CME) courses in that your students will not be expressing their understanding of lessons by answering multiple choice questions. The use of case studies as a learning tool will be familiar, but the task of responding to case studies by developing practice tools will not be. Your students may be frustrated with the seeming open-endedness of tasks, but should be motivated by the relevance of course outcomes to their practice.

The instructor's role

Your role in this course will be that of a facilitator, rather than a content provider. You will be helping your learners to:
  • Develop effective problem-solving and collaboration skills
  • Spot the most useful content to address the issues with which they are grappling
For some useful practice tips, read Chapter 1 of Schwarz's "The skilled facilitator: A comprehensive resource for consultants, facilitators, managers, trainers, and coaches" attached below. (Schwarz, Roger, 2002)


American Medical Association. (1998). Genetic Testing: A Study of Consumer Attitudes, March 1998. Survey Center, Chicago, Available at:

Schwarz, R. (2002) . The skilled facilitator: A comprehensive resource for consultants, facilitators, managers, trainers, and coaches. San Francisco: Jossey-Bass.

Shirts, B.H., and Parker, L.S. (2008). Changing interpretations, stable genes: responsibility of patients, professionals, and policy makers in the clinical interpretation of complex genetic information. Genetics in Medicine, 10(11),778-783).

Photo credit
Patients waiting to see the doctor, with their fears, Wellcome Library, London, Wellcome Images

Dianne Rees,
Jul 31, 2010, 5:40 AM