The Viewers Guide, also available via download from this website, is designed to promote further exploration of the issues raised in the program. It contains an essay as well as case reviews, discussion points, CME materials, and selected resources, available in an expanded edition here. The article “Primary Care Clinicians and the Dilemmas of Genetic Testing,” authored by members of the program faculty, sets the stage by examining critical issues.
“Although the scientific achievement [of the sequencing of the human genome] is unquestionable, the nature and degree of its impact on the current and future practice of medicine, is not clear…”
“…As primary care clinicians are becoming more conversant with the recent advances in genetics, the key issues that many are raising include: How will genetics impact my daily practice? What kinds of questions will patients be asking about genetic medicine? What is the appropriate role of the primary care clinician in the overall delivery of genetic services? What kind of education do I need to effectively fulfill this role?”
“…Two areas of genetic medicine are currently most relevant to primary care and are thus most likely to impact daily practice…”
Supporting the videotaped presentations are concise reviews of each of the three cases, followed by questions, designed to foster discussion of key points:
Case #2: Familial Adenomatous Polyposis
“Synopsis: Ann was 26 and the mother of two young girls when she presented with symptoms of rectal bleeding, stomach pain and weight loss. Soon after, she had endoscopic screening and was diagnosed with FAP. Despite the absence of FAP in her family history, each of Ann’s eight siblings were examined endoscopically for signs of the disease. No polyps were discovered in any family member, which indicated that Ann had a spontaneous mutation of the APC gene. Ann’s daughters began endoscopic screening at ages 10 and 8. …”
“Given the medical benefits of APC gene testing, many providers would be strongly inclined to recommend the test [for the children]. How “directive” should a clinician be in recommending the test? How would you describe to patients and families the psychological and social risks involved with APC testing? …”
Click here to read the complete FAP case review and questions >>
General topics are also provided to help expand the discussion from the video cases to the broader context of the primary care practice. Provocative questions address issues surrounding Informed Consent, Privacy and Confidentiality, and Patient Communication for Informed Decision-making. Here are examples:
“Genetic counseling is likely to be limited to a few sessions at most, while we as primary care providers will continue to see the patient over time. In addition, as we saw in the CF case, even highly educated patients do not necessarily know what to expect from genetic counseling or understand how it can help them. How can primary care providers prepare patients in advance to derive the most benefit from limited genetic counseling sessions?”
“There is growing concern that noninvasive, procedurally simple prenatal tests, including those that look for multiple genetic markers in a single sample of blood, will become widely used without regard for the impact and meaning of the results on individual patients and on society. As prenatal genetic testing becomes routine, in what ways can a busy primary care or obstetrics practice realistically implement a more deliberative informed consent process for genetic screening?”
“In the roundtable discussion, Dr. Penchaszadeh said he would refer a patient to another physician before they underwent genetic testing for a serious disorder, if the patient did not want to warn potentially affected family members of a positive result. Is this appropriate? Feasible?”
Download the Viewers Guide to review the complete set of discussion points.
Please note that the deadline for CME credit has expired as of June 30, 2004.
Completion of both the Post-test and the Program Evaluation are required for CME credit. Click here to download and review these documents and the corresponding Answer Sheets.
