Journal of Genetic Counseling

, Volume 27, Issue 4, pp 968–977 | Cite as

Physicians’ Awareness and Utilization of Genetic Services in Texas

  • Callie Diamonstein
  • Blair Stevens
  • S. Shahrukh Hashmi
  • Jerrie Refuerzo
  • Cathy Sullivan
  • Jennifer Hoskovec
Original Research


The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to genetic tests and services often hinges on physicians’ ability to identify patients at risk for genetic disease and provide appropriate testing and counseling or refer to genetic specialists. Recent research demonstrates the need for referrals to genetic specialists by showing that many physicians lack skills required to perform appropriate genetic services, such as making proper risk assessments, providing genetic counseling, ordering genetic testing and interpreting results. However, little research exists on physicians’ awareness and utilization of genetic services. In this study, an electronic survey evaluating practicing physicians’ awareness of, utilization of and perceived barriers to genetic services in Texas, and interest in learning more about genetics and genetic services was distributed via state physician organizations. Of the 157 participants, approximately half reported they were moderately or very aware of genetic testing and services in their area. Very few reported awareness of telemedicine services. Over two-thirds reported never or rarely referring to genetic counselors or other genetic specialists, despite 75% reporting they had noticed an increased impact of genetics on their field and 61% reporting they had discussed genetics more in their day-to-day practice in the last 5–10 years. Only 20% reported genetics was very integral to their specialty. Over three-fourths of all participants indicated interest in learning more about genetics, genetic testing, and genetic services. Among the most frequently chosen barriers to genetic counselors were awareness-related barriers such as not knowing how to refer to a genetic counselor. Responses to many items varied significantly by medical specialty. The results identify a need to increase awareness of genetic services and referral logistics. Specific findings can help direct outreach efforts to educate clinicians, such as developing clinically meaningful, specialty-specific educational objectives.


Genetic education Genetic services Awareness of genetic services Utilization of genetic services Genetic testing access Genetic counseling 



This original research study was conducted to fulfill a degree requirement for a Master of Science in Genetic Counseling.

Compliance with Ethical Standards

Currently practicing physicians in Texas were eligible to participate in this study, which was approved by the Institutional Review Board at the University of Texas Health Science Center at Houston.

Conflicts of Interest

Callie Diamonstein, Blair Stevens, S. Shahrukh Hashmi, Jerrie Refuerzo, Cathy Sullivan, and Jennifer Hoskovec declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2017_199_MOESM1_ESM.pdf (129 kb)
ESM 1 (PDF 129 kb)


  1. Baars, M. J., Henneman, L., & Ten Kate, L. P. (2005). Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: A global problem. Genetics in Medicine, 7(9), 605–610. Scholar
  2. Baldwin, L.-M., Trivers, K. F., Andrilla, C. H. A., Matthews, B., Miller, J. W., Lishner, D. M., et al. (2014). Accuracy of ovarian and colon cancer risk assessments by US physicians. Journal of General Internal Medicine, 1–9.
  3. Bellcross, C. A., Kolor, K., Goddard, K. A., Coates, R. J., Reyes, M., & Khoury, M. J. (2011). Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. American Journal of Preventive Medicine, 40(1), 61–66. Scholar
  4. Bensend, T. A., Veach, P. M., & Niendorf, K. B. (2014). What's the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. Journal of Genetic Counseling, 23(1), 48–63. Scholar
  5. Bonham, V. L., Jenkins, J., Stevens, N., & McBride, C. M. (2008). Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiology Biomarkers & Prevention, 17(11), 2980–2986.CrossRefGoogle Scholar
  6. Brierley, K. L., Campfield, D., Ducaine, W., Dohany, L., Donenberg, T., Shannon, K., et al. (2010). Errors in delivery of cancer genetics services: Implications for practice. Connecticut Medicine, 74(7), 413–423.PubMedGoogle Scholar
  7. Demmer, L. A., O'Neill, M. J., Roberts, A. E., & Clay, M. C. (2000). Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. JAMA, 284(20), 2595–2596.CrossRefPubMedGoogle Scholar
  8. Heidelbaugh, J. J., & Tortorello, M. (2012). The adult well male examination. American Family Physician, 85(10), 964–971.PubMedGoogle Scholar
  9. Klitzman, R., Chung, W., Marder, K., Shanmugham, A., Chin, L. J., Stark, M., et al. (2013). Attitudes and practices among internists concerning genetic testing. Journal of Genetic Counseling, 22(1), 90–100. Scholar
  10. Leandro, B., Paneque, M., Sequeiros, J., & Porto, G. (2014). Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping. Journal of Genetic Counseling, 1–8.
  11. Michigan Association of Genetic Counselors, Inc. (2012). Licensure for genetic counselors in the state of Michigan: Cases of Harm. Retrieved from
  12. Miller, C. E., Krautscheid, P., Baldwin, E. E., Tvrdik, T., Openshaw, A. S., Hart, K., et al. (2014). Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. American Journal of Medical Genetics. Part A, 164a(5), 1094–1101. Scholar
  13. Pompilii, E., Astolfi, G., Calabrese, O., Calzolari, E., Ferlini, A., Lucci, M., et al. (2014). Prenatal genetic counseling referrals for advanced maternal age: Still room for improvement. Prenatal Diagnosis, 34(1), 71–74.CrossRefPubMedGoogle Scholar
  14. Qaseem, A., Denberg, T. D., Hopkins, R. H., Humphrey, L. L., Levine, J., Sweet, D. E., et al. (2012). Screening for colorectal cancer: A guidance statement from the American College of Physicians. Annals of Internal Medicine, 156(5), 378–386.CrossRefPubMedGoogle Scholar
  15. Statistics. (2017). Retrieved from
  16. Texas Medical Association. (2014). Survey of Texas Physicians 2014; Practice Settings. Retrieved from
  17. Texas Medical Board. (2016). Physician Statistics 2016 – Sept. Retrieved from
  18. Trivers, K. F., Baldwin, L. M., Miller, J. W., Matthews, B., Andrilla, C. H. A., Lishner, D. M., et al. (2011). Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians. Cancer, 117(23), 5334–5343.CrossRefPubMedGoogle Scholar
  19. Wood, M. E., Stockdale, A., & Flynn, B. S. (2008). Interviews with primary care physicians regarding taking and interpreting the cancer family history. Family Practice, 25(5), 334–340. Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2017

Authors and Affiliations

  • Callie Diamonstein
    • 1
    • 2
  • Blair Stevens
    • 3
  • S. Shahrukh Hashmi
    • 4
  • Jerrie Refuerzo
    • 2
  • Cathy Sullivan
    • 5
  • Jennifer Hoskovec
    • 2
  1. 1.Division of Medical Genomics, Inova Translational Medicine InstituteFalls ChurchUSA
  2. 2.Genetic Counseling Program, University of Texas Graduate School of Biomedical SciencesHoustonUSA
  3. 3.Department of Obstetrics, Gynecology and Reproductive SciencesMcGovern Medical School at UTHealthHoustonUSA
  4. 4.Department of PediatricsMcGovern Medical School at UTHealthHoustonUSA
  5. 5.Lester and Sue Smith Breast CenterBaylor College of MedicineHoustonUSA

Personalised recommendations