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Evaluation of a Novel Electronic Genetic Screening and Clinical Decision Support Tool in Prenatal Clinical Settings

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Abstract

“The Pregnancy and Health Profile” (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher’s exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83 % (513/618) of patients that provided feedback, 97 % felt PHP was easy to use and 98 % easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.

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References

  1. Guttmacher, A. E., Collins, F. S., & Carmona, R. H. (2004). The family history–more important than ever. New England Journal of Medicine, 351(22), 2333–2336.

    Article  CAS  PubMed  Google Scholar 

  2. Pyeritz, R. E. (2012). The family history: the first genetic test, and still useful after all those years? Genetics in Medicine, 14(1), 3–9.

    Article  PubMed  Google Scholar 

  3. ACOG. (2011). Committee Opinion No. 478: Family history as a risk assessment tool. Obstetrics and Gynecology, 117(3), 747–750.

    Article  Google Scholar 

  4. Bhattacharya, S., Raja, E. A., Mirazo, E. R., et al. (2010). Inherited predisposition to spontaneous preterm delivery. Obstetrics and Gynecology, 115(6), 1125–1133.

    Article  PubMed  Google Scholar 

  5. Oyen, N., Poulsen, G., Boyd, H. A., et al. (2009). Recurrence of congenital heart defects in families. Circulation, 120(4), 295–301.

    Article  PubMed  Google Scholar 

  6. Forty, L., Jones, L., Macgregor, S., et al. (2006). Familiality of postpartum depression in unipolar disorder: Results of a family study. American Journal of Psychiatry, 163(9), 1549–1553.

    Article  PubMed  Google Scholar 

  7. Hampel, H., Frankel, W. L., Martin, E., et al. (2005). Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). New England Journal of Medicine, 352(18), 1851–1860.

    Article  CAS  PubMed  Google Scholar 

  8. ACOG. (2012). Practice bulletin: Clinical management guidelines for obstetrician-gynecologists. http://www.acog.org/~/media/List%20of%20Titles/PBListOfTitles.pdf.

  9. Lin, B. K., Edelman, E. A., McInerney, J. D., et al. (2013). Personalizing prenatal care using family health history: Identifying and integrating a panel of conditions into a novel screening tool. Personalized Medicine, 10(3), 307–318.

    Article  CAS  Google Scholar 

  10. Darcy, D., Tian, L., Taylor, J., et al. (2011). Cystic fibrosis carrier screening in obstetric clinical practice: Knowledge, practices, and barriers, a decade after publication of screening guidelines. Genet Test Mol Biomarkers, 15(7–8), 517–523.

    Article  PubMed  Google Scholar 

  11. SACGHS. (2011). Genetics education and training: Report of the secretary’s advisory committee on genetics, health, and society. Bethesda, MD: Department of Health and Human Services.

    Google Scholar 

  12. Nippert, I., Harris, H. J., Julian-Reynier, C., et al. (2011). Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1. Journal of Community Genetics, 2(1), 1–11.

    Article  PubMed Central  PubMed  Google Scholar 

  13. Hoffman, M. A., & Williams, M. S. (2011). Electronic medical records and personalized medicine. Human Genetics, 130(1), 33–39.

    Article  PubMed  Google Scholar 

  14. Osheroff, J. A., Teich, J. M., Middleton, B., et al. (2007). A roadmap for national action on clinical decision support. Journal of the American Medical Informatics Association, 14(2), 141–145.

    Article  PubMed Central  PubMed  Google Scholar 

  15. Litvin, C. B., Davis, K. S., Moran, W. P., et al. (2012). The use of clinical decision-support tools to facilitate geriatric education. Journal of the American Geriatrics Society, 60(6), 1145–1149.

    Article  PubMed  Google Scholar 

  16. Welch, B. M., & Kawamoto, K. (2013). Clinical decision support for genetically guided personalized medicine: A systematic review. Journal of the American Medical Informatics Association, 20(2), 388–400.

    Google Scholar 

  17. Rubinstein, W. S., Acheson, L. S., O’Neill, S. M., et al. (2011). Clinical utility of family history for cancer screening and referral in primary care: A report from the family healthware impact trial. Genetics in Medicine, 13(11), 956–965.

    Article  PubMed Central  PubMed  Google Scholar 

  18. Ozanne, E. M., Loberg, A., Hughes, S., et al. (2009). Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. The Breast Journal, 15(2), 155–162.

    Article  PubMed  Google Scholar 

  19. Orlando, L. A., Hauser, E. R., Christianson, C., et al. (2011). Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system. BMC Health Services Research, 11, 264.

    Article  PubMed Central  PubMed  Google Scholar 

  20. NCHPEG. (2013). The pregnancy and health profile: A screening and risk assessment tool. Accessed July 15, 2013, from http://www.nchpeg.org/index.php?option=com_content&view=article&id=410&Itemid=277.

  21. Ralston, J. D., Carrell, D., Reid, R., et al. (2007). Patient web services integrated with a shared medical record: Patient use and satisfaction. Journal of the American Medical Informatics Association, 14(6), 798–806.

    Article  PubMed Central  PubMed  Google Scholar 

  22. Arar, N., Seo, J., Abboud, H. E., et al. (2011). Veterans’ experience in using the online surgeon general’s family health history tool. Personalized Medicine, 8(5), 523–532. doi:10.2217/pme.11.53.

    Article  PubMed Central  PubMed  Google Scholar 

  23. Westman, J., Hampel, H., & Bradley, T. (2000). Efficacy of a touchscreen computer based family cancer history questionnaire and subsequent cancer risk assessment. Journal of Medical Genetics, 37(5), 354–360.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  24. Facio, F. M., Feero, W. G., Linn, A., et al. (2010). Validation of my Family health Portrait for six common heritable conditions. Genetics in Medicine, 12(6), 370–375.

    Article  PubMed Central  PubMed  Google Scholar 

  25. ACOG. (2013). ACOG Resource Center. Accessed February 4, 2013, from fromhttp://www.acog.org/About_ACOG/ACOG_Departments/Resource_Center.

  26. van der Sijs, H., Aarts, J., Vulto, A., et al. (2006). Overriding of drug safety alerts in computerized physician order entry. Journal of the American Medical Informatics Association, 13(2), 138–147.

    Article  PubMed Central  PubMed  Google Scholar 

  27. Shah, N. R., Seger, A. C., Seger, D. L., et al. (2006). Improving acceptance of computerized prescribing alerts in ambulatory care. Journal of the American Medical Informatics Association, 13(1), 5–11.

    Article  PubMed Central  PubMed  Google Scholar 

  28. Toriello, H. V., & Goldenberg, P. (2009). Evidence-based medicine and practice guidelines: Application to genetics. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 151C(3), 235–240.

    Article  Google Scholar 

  29. Wilson, B. J., Carroll, J. C., Allanson, J., et al. (2012). Family history tools in primary care: Does one size fit all? Public Health Genomics, 15(3–4), 181–188.

    Article  CAS  PubMed  Google Scholar 

  30. Kawamoto, K., Houlihan, C. A., Balas, E. A., et al. (2005). Improving clinical practice using clinical decision support systems: A systematic review of trials to identify features critical to success. BMJ, 330(7494), 765.

    Article  PubMed Central  PubMed  Google Scholar 

  31. Bauer, N. S., & Carroll, A. E. (2013). Downs SM. Journal of the American Medical Informatics Association: Understanding the acceptability of a computer decision support system in pediatric primary care.

    Google Scholar 

  32. VanGeest, J. B., Johnson, T. P., & Welch, V. L. (2007). Methodologies for improving response rates in surveys of physicians: A systematic review. Evaluation and the Health Professions, 30(4), 303–321.

    Article  PubMed  Google Scholar 

  33. Ruffin, M. T., Jr Nease, D. E., Sen, A., et al. (2011). Effect of preventive messages tailored to family history on health behaviors: The family healthware impact trial. The Annals of Family Medicine, 9(1), 3–11.

    Article  Google Scholar 

  34. Qureshi, N., Armstrong, S., Dhiman, P., et al. (2012). Effect of adding systematic family history enquiry to cardiovascular disease risk assessment in primary care. Annals of Internal Medicine, 156(4), 253–262.

    Google Scholar 

  35. NIH. (2009). Family history and improving health. National Institutes of Health State of the Science Consensus Conference; Bethesda, Maryland.

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Acknowledgments

The Pregnancy and Health Profile was developed by the National Coalition for Health Professional Education in Genetics, Genetic Alliance, HughesRiskApps.net, the March of Dimes, and the Health Resources and Services Administration (HRSA) and is funded by Grant #U33MC12786 from HRSA. The views expressed in this publication are solely the opinions of the authors and do not necessarily reflect the official policies of the US Department of Health and Human Services or the Health Resources and Services Administration, nor does mention of the department or agency names imply endorsement by the US government. We are grateful to the women, providers, and clinic staff that participated in this project, especially the study coordinators and investigators from our collaborating clinical sites for their effort and continued partnership. We also acknowledge the project’s national advisory committee for members’ advice and time, and Joseph McInerney, Michele Lloyd Puryear, and Penny Kyler for their leadership and vision at early stages of this project.

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Author notes

  1. Nicole DeGroat

    Present address: , 1275 York Ave, New York, NY, 10065, USA

Authors and Affiliations

  1. National Coalition for Health Professional Education in Genetics, 2360 W Joppa Road; Suite 320, Lutherville, MD, 21093, USA

    Emily A. Edelman & Joan Scott

  2. March of Dimes, 1275 Mamaroneck Avenue, White Plains, NY, 10605, USA

    Bruce K. Lin & Siobhan M. Dolan

  3. Doksum Consulting, P.O. Box 136, Stoneham, MA, 02180, USA

    Teresa Doksum

  4. Massachusetts General Hospital, 55 Fruit Street, Yawkey 7, Boston, MA, 02114, USA

    Brian Drohan & Kevin Hughes

  5. Genetic Alliance, 4301 Connecticut Ave., NW; Suite 404, Washington, DC, 20008, USA

    Vaughn Edelson & James O’Leary

  6. Department of Obstetrics and Gynecology and Women’s Health, Montefiore Medical Center, 1621 Eastchester Road, Bronx, NY, 10461, USA

    Siobhan M. Dolan & Setul Pardanani

  7. Genetic Services Branch, Health Resources and Services Administration, 5600 Fishers Lane, Room 8-05, Rockville, MD, 20857, USA

    Lisa Vasquez & Sara Copeland

  8. Department of Obstetrics and Gynecology, Mountain Area Health Education Center, 121 Hendersonville Road, Asheville, NC, 28803-2868, USA

    Shelley L. Galvin

  9. Montefiore Medical Center, Bronx, NY, 10461, USA

    Nicole DeGroat

  10. Maine Dartmouth Family Medicine Residency, 15 East Chestnut Street, Augusta, ME, 04330, USA

    W. Gregory Feero & Claire Adams

  11. Ariosa Diagnostics, 5945 Optical Court, San Jose, CA, 95138, USA

    Renee Jones

Authors
  1. Emily A. Edelman
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Corresponding author

Correspondence to Emily A. Edelman.

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Edelman, E.A., Lin, B.K., Doksum, T. et al. Evaluation of a Novel Electronic Genetic Screening and Clinical Decision Support Tool in Prenatal Clinical Settings. Matern Child Health J 18, 1233–1245 (2014). https://doi.org/10.1007/s10995-013-1358-y

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  • DOI: https://doi.org/10.1007/s10995-013-1358-y

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