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A Resource from the American College of Preventive Medicine 


It has long been recognized that genes hold the key to personalized medical care -- tailoring screening, treatment and prevention strategies to individual genetic profiles.  The goal is care that is more specific and more efficient with fewer adverse effects.  The technology that enabled the mapping of the human genome can now be used to scan these genes for variants associated with virtually any disease process.  The result is a new wave of genetic tests, with over 1500 new tests developed in just the last few years.  The number will continue to grow as new variants are identified and associated with disease in genome wide association studies (GWAS). 

The new tests are, however, a far cry from traditional genetic tests for single gene disorders and familial cancer syndromes that have long played a vital role in primary and specialist care.  Many questions remain about their value.  There is little oversight in their development, and virtually no evidence of clinical utility.  The companies that develop them often market them directly to consumers.  Some will be proven useful in clinical practice; many will not.  Only until  the appropriate research is completed will we know. 

Primary care clinicians have a key responsibility in helping patients understand the pros and cons of genetic testing.  Genetic tests are unlike other medical tests in important ways – ethical, social, emotional, legal aspects, and the statistics involved.  And, with the new tests present, dealing with false claims and little, if any, supporting evidence.  Genetic testing will play an increasingly important role in medical care as each new test that is proven is incorporated into standard practice.  This is especially true in oncology and cardiovascular medicine.  Patients will be asking their primary care doctors about all of these tests.

Clinicians often report inadequate training in genetic testing, and a lack of confidence in counseling patients on related issues.  Additional education and guidance is needed.  The Genetic Testing Time Tool developed by the American College of Preventive Medicine is an innovative educational tool designed to assist physicians in discussions about genetic testing.  The tool includes a practical approach for a brief visit, a robust clinical reference document addressing the important issues, useful tools and resources, and a patient handout.  

This educational activity is intended for primary care physicians. 

After completing this program, physician participants should be able to:

  • Describe the pros and cons of genetic testing

  • Describe the limitations of "direct to consumer” genetic tests

  • Describe how the findings from genome wide association studies are used to develop new gene tests, and why this is short-sighted

  • Understand the regulations instituted by the Genetic Information Non-Discrimination Act (GINA)

  • Describe the genetic tests currently supported by evidence-based recommendations

  • Identify key websites for information about genetic testing, and locating testing laboratories and genetic specialists

This activity has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME). The American College of Preventive Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The American College of Preventive Medicine designates this Enduring Material for a maximum of 1.0 AMA PRA Category 1 Credit(s) ™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The estimated time to complete this activity is 1.0 hour. 

To earn CME credit for this educational activity:

  1. Read the CME information on this page.
  2. Read the Time Tool and Clinical Reference.
  3. Complete the CME post-test exam with a score of at least 70%.
  4. Complete the CME evaluation survey.
  5. Your CME certificate will be sent to you via email.


2010 through February 2012. Original release date: February 2010


These materials have been reviewed by the members of the American College of Preventive Medicine to ensure the continued scientific accuracy and medical relevance of information presented and its independence from commercial bias.

  • George W. Anstadt, MD, FACOEM, FACPM
    Rochester, NY

  • Claudia N. Mikail, MD, MPH
    Woodland Hills, CA

  • Jill Waalen, MD, MPH, FACPM
    The Scripps Research Institute
    La Jolla, CA 

In the interest of providing an educational experience free of commercial bias, and as the accredited provider of CME for this activity, the American College of Preventive Medicine was responsible for decisions regarding educational content and allocation of funds.  All individuals involved in the planning, development, and delivery of educational activities are required to sign a conflict of interest statement in which they disclose any relevant financial interests or other affiliations with industry or other associations which may have direct and substantial interest in the subject matter of the CME activity. Such disclosure allows program participants to better evaluate the objectivity of the information presented in the program.

  • George W. Anstadt, MD, FACOEM, FACPM has disclosed no financial relationships.
  • Claudia N. Mikail, MD, MPH has disclosed no financial relationships.
  • Jill Waalen, MD, MPH, FACPM has disclosed no financial relationships.
  • Larry Mattson, Medical Writer, has disclosed no financial relationships.

These pages may be viewed using standard Internet browser applications (e.g. Internet Explorer). They may also be downloaded as PDFs and read using standard PDF reader applications (e.g. Adobe Acrobat Reader).

The American College of Preventive Medicine collects personal information from participants in this online activity for purposes of assigning CME credit only.  We will not share or sell your contact information, and your answers to quizzes and feedback forms will be kept confidential.

This material is copyright of the American College of Preventive Medicine.


If you have questions regarding this CME activity, please contact cme@acpm.org.

Genetic Testing Patient Guide




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