Implementation of an electronic genomic and family health history tool in primary prenatal care

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 1, 2014, Pages 34-44

  Edelman, Emily A ^a   Lin, Bruce K ^b   Doksum, Teresa ^c   Drohan, Brian ^d   Edelson, Vaughn ^b   Dolan, Siobhan M ^e,f   Hughes, Kevin S ^d   O'Leary, James ^b   Galvin, Shelley L ^g,h   Degroat, Nicole ^f   Pardanani, Setul ^e,f   Feero, W Gregory ^b   Adams, Claire ⁱ   Jones, Renee ^b,j   Scott, Joan ^b  

^a National Coalition for Health Professional Education in Genetics (NCHPEG)   (United States)

^b March of Dimes ^*

^c Doksum Consulting   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^f MONTEFIORE MEDICAL CENTER   (United States)

^g Mountain Area Health Education Center   (United States)

^h UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

ⁱ Maine Dartmouth Family Medicine Residency   (United States)

^j Podiatry   (United States)

more..

Author keywords

Clinical decision support; Family health history; Genetic screening; Performance measure; Prenatal care

Indexed keywords

ARTICLE; CLINICAL DECISION MAKING; CYSTIC FIBROSIS; DECISION SUPPORT SYSTEM; DOCUMENTATION; ETHNICITY; FAMILY HISTORY; FEMALE; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; GENOMICS; HEMOGLOBINOPATHY; HUMAN; PATIENT COMPLIANCE; PEDIGREE; PRACTICE GUIDELINE; PRENATAL CARE; PRIORITY JOURNAL; RACE; RISK ASSESSMENT;

CLINICAL DECISION SUPPORT; FAMILY HEALTH HISTORY; GENETIC SCREENING; PERFORMANCE MEASURE; PRENATAL CARE;

CONTINENTAL POPULATION GROUPS; CYSTIC FIBROSIS; FEMALE; GENETIC TESTING; GENOMICS; HEMOGLOBINOPATHIES; HUMANS; MEDICAL HISTORY TAKING; PEDIGREE; PREGNANCY; PRENATAL CARE; PRIMARY HEALTH CARE; RETROSPECTIVE STUDIES; RISK ASSESSMENT; SOFTWARE;

EID: 84896314767     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31389     Document Type: Article

References (30)

1. Acheson LS, Wiesner GL, Zyzanski SJ, Goodwin MA, Stange KC. 2000. Family history-taking in community family practice: Implications for genetic screening. Genet Med 2:180-185.
2. ACOG. 2005. ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease. Obstet Gynecol 106:893-894.
3. ACOG. 2007. ACOG Practice Bulletin No. 78: Hemoglobinopathies in pregnancy. Obstet Gynecol 109:229-237.
4. ACOG. 2009. ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 114:950-953.
5. ACOG. 2010. ACOG Committee Opinion No. 469: Carrier screening for fragile X syndrome. Obstet Gynecol 116:1008-1010.
6. ACOG. 2011a. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol 117:1028-1031.
7. ACOG. 2011b. Committee Opinion No. 478: Family history as a risk assessment tool. Obstet Gynecol 117:747-750.
8. Baer HJ, Schneider LI, Colditz GA, Dart H, Andry A, Williams DH, Orav EJ, Haas JS, Getty G, Whittemore E, Bates DW. 2013. Use of a web-based risk appraisal tool for assessing family history and lifestyle factors in primary care. J Gen Intern Med 28:817-824.
9. Darcy D, Tian L, Taylor J, Schrijver I. 2011. Cystic fibrosis carrier screening in obstetric clinical practice: Knowledge, practices, and barriers, a decade after publication of screening guidelines. Genet Test Mol Biomarkers 15:517-523.
10. Edelman EA, Lin BK, Doksum T, Drohan B, Edelson V, Dolan SM, Hughes KS, O'Leary J, Vasquez L, Copeland S, Galvin S, DeGroat N, S P, Feero WG, Adams C, Scott JA. 2013. Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings. Matern Child Health J epub ahead of print.
11. Feldstein AC, Glasgow RE. 2008. A practical, robust implementation and sustainability model (PRISM) for integrating research findings into practice. Jt Comm J Qual Patient Saf 34:228-243.
12. Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH Jr, Dawson G, Gordon B, Gravel JS, Johnson CP, Kallen RJ, Levy SE, Minshew NJ, Ozonoff S, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin SW, Tuchman RF, Volkmar FR. 2000. Practice parameter: Screening and diagnosis of autism: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 55:468-479.
13. Khoury MJ, Coates RJ, Evans JP. 2010. Evidence-based classification of recommendations on use of genomic tests in clinical practice: Dealing with insufficient evidence. Genet Med 12:680-683.
14. Levy DE, Garber JE, Shields AE. 2009. Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: Early disagreements and low utilization. J Gen Intern Med 24:822-828.
15. Lin BK, Edelman EA, McInerney JD, O'Leary J, Edelson V, Hughes KS, Drohan B, Kyler P, Puryear ML, Dolan SM. 2013. Personalizing prenatal care using family health history: Identifying and integrating a panel of conditions into a novel screening tool. Personalized Med 10:307-318.
16. McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ. 2005. Genetic counseling for fragile x syndrome: Updated recommendations of the national society of genetic counselors. J Genet Couns 14:249-270.
17. Moeschler JB, Shevell M, American Academy of Pediatrics Committee on Genetics. 2006. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117:2304-2316.
18. NCHPEG. 2013. The pregnancy & health profile: A screening & risk assessment tool. Lutherville, MD: NCHPEG. http://www.nchpeg.org/index.php?option=com_content&view=article&id=410&Itemid=277
19. NIH. 1999. Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch Intern Med 159:1529-1539.
20. OMB. 1997. Revisions to the standards for the classification of federal data on race and ethnicity. Federal Register 62:9.
21. Orlando LA, Hauser ER, Christianson C, Powell KP, Buchanan AH, Chesnut B, Agbaje AB, Henrich VC, Ginsburg G. 2011. Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system. BMC Health Serv Res 11:264.
22. Orlando LA, Wu RR, Himmel T, Buchanan AH, Powell KP, Hauser E, Henrich VC, Ginsburg G. 2014. Health services impact of implementing family health history risk stratification in primary care. Am J Med Genet C.
23. Ozanne EM, Loberg A, Hughes S, Lawrence C, Drohan B, Semine A, Jellinek M, Cronin C, Milham F, Dowd D, Block C, Lockhart D, Sharko J, Grinstein G, Hughes KS. 2009. Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. Breast J 15:155-162.
24. Powell KP, Christianson CA, Hahn SE, Dave G, Evans LR, Blanton SH, Hauser E, Agbaje AB, Orlando LA, Ginsburg GS, Henrich VC. 2013. Collection of family health history for assessment of chronic disease risk in primary care. N C J Med 74:7.
25. Rubinstein WS, Acheson LS, O'Neill SM, Ruffin MTt, Wang C, Beaumont JL, Rothrock N. 2011. Clinical utility of family history for cancer screening and referral in primary care: A report from the Family Healthware Impact Trial. Genet Med 13:956-965.
26. Scheuner MT, Hamilton AB, Peredo J, Sale TJ, Austin C, Gilman SC, Bowen MS, Goldzweig CL, Lee M, Mittman BS, Yano EM. 2014. A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians. Genet Med 16:60-69.
27. Shaikh U, Nelson R, Tancredi D, Byrd RS. 2010. Presentation of body mass index within an electronic health record to improve weight assessment and counselling in children and adolescents. Informatics in Primary Care 18:235-244.
28. Sherman S, Pletcher BA, Driscoll DA. 2005. Fragile X syndrome: Diagnostic and carrier testing. Genet Med 7:584-587.
29. Welch BM, Kawamoto K. 2013. Clinical decision support for genetically guided personalized medicine: A systematic review. JAMIA 20:388-400.
30. Yip VL, Marson AG, Jorgensen AL, Pirmohamed M, Alfirevic A. 2012. HLA genotype and carbamazepine-induced cutaneous adverse drug reactions: A systematic review. Clinical Pharmacol Ther 92:757-765.