Journal of Genetic Counseling

, Volume 22, Issue 1, pp 90–100 | Cite as

Attitudes and Practices Among Internists Concerning Genetic Testing

  • Robert KlitzmanEmail author
  • Wendy Chung
  • Karen Marder
  • Anita Shanmugham
  • Lisa J. Chin
  • Meredith Stark
  • Cheng-Shiun Leu
  • Paul S. Appelbaum
Original Research


Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8 %), followed by Breast/Ovarian Cancer (15.0 %). In the past 6 months, 65 % had counseled patients on genetic issues, 44 % had ordered genetic tests, 38.5 % had referred patients to a genetic counselor or geneticist, and 27.5 % had received ads from commercial labs for genetic testing. Only 4.5 % had tried to hide or disguise genetic information, and <2 % have had patients report genetic discrimination. Only 53.4 % knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7 %) and guidelines for genetic testing (87.1 %). Most felt needs for more training on when to order tests (79 %), and how to counsel patients (82 %), interpret results (77.3 %), and maintain privacy (80.6 %). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (p < .001), and if physicians had a geneticist/genetic counselor to whom to refer patients (p < .002), had referred patients to a geneticist/genetic counselor in the past 6 months, had more comfort counseling patients about testing (p < .019), counseled patients about genetics, larger practices (p < .032), fewer African-American patients (p < .027), and patients who had reported genetic discrimination (p < .044). In a multiple logistic regression, ordering a genetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests. These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education.


Genetic testing Medical education Doctor-patient communication Ethics Genetic discrimination Decision-making Genetic counseling 



The authors would like to thank Meghan Sweeney, Patricia Contino and Melissa Salm. This research was funded by the National Human Genome Research Institute, Ethical, Legal and Social Implications Program; R-01-HG002431-01; “Views of Privacy of Genetic Information,” and the National Human Genome Research Institute, “Center for ELSI Research on Psychiatric Neurologic and Behavioral Genetics,” 1P20HG005535-01.


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Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Robert Klitzman
    • 1
    Email author
  • Wendy Chung
    • 2
  • Karen Marder
    • 3
  • Anita Shanmugham
    • 4
  • Lisa J. Chin
    • 5
  • Meredith Stark
    • 6
  • Cheng-Shiun Leu
    • 7
  • Paul S. Appelbaum
    • 1
  1. 1.Department of Psychiatry, College of Physicians & SurgeonsColumbia University, New York State Psychiatric InstituteNew YorkUSA
  2. 2.Departments of Pediatrics and Medicine, College of Physicians and SurgeonsColumbia UniversityNew YorkUSA
  3. 3.Department of Neurology, Psychiatry, College of Physicians and Surgeons, Gertrude H. Sergievsky Center, Taub Institute for Alzheimer’s Disease and the Aging BrainColumbia UniversityNew YorkUSA
  4. 4.New York-Presbyterian Morgan Stanley Children’s HospitalNew YorkUSA
  5. 5.HIV Center for Clinical and Behavior Studies, New York State Psychiatric InstituteNew YorkUSA
  6. 6.Masters of Biothics Program, Columbia UniversityNew YorkUSA
  7. 7.Department of Biostatistics, Mailman School of Public HealthColumbia UniversityNew YorkUSA

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