Background: There has been growing emphasis on preconception care as a strategy to improve maternal and child health since the 1980s. Increasingly, development of genetic tests will require primary care providers to make decisions about preconception genetic screening. Limited research has been conducted on how primary care providers interpret patients’ characteristics and use constructs, such as ethnicity and race, to decide whom to offer preconception genetic screening. Objective: This report assessed the influence of patient characteristics on decisions to offer preconception genetic screening. Methods: A web-based survey of family physicians was conducted. Physicians reviewed a clinical vignette that was accompanied by a picture of either a black or a white patient. Physicians indicated whether they would offer genetic screening, and if yes, what tests they would offer and what factors influenced their decisions. Results: The majority (69.2%) of physicians reported that they would not offer genetic screening. Respondents who reviewed the vignette accompanied by a picture of the black patient were more likely to offer screening (35% vs. 26%, p = 0.0034) and rated race as more important to their decision to offer testing than those who viewed the picture of the white patient (76% vs. 49%, p < 0.0001). Conclusions: Our findings suggest that patient race is important to physicians when making decisions about preconception genetic testing and that decision making is influenced by patients’ physical characteristics. The reticence of physicians in this sample to offer preconception screening is an important finding for public health and clinical practice.

Keywords:
Ancestry, Decision making, Ethnicity, Genetic screening, Guidelines, Physical features, Preconception, Race
1.
Centers for Disease Control and Prevention: Preconception health and care, 2006 – at a glance. Atlanta, GA, 2006. Available at http://www.cdc.gov/ncbddd/preconception/documents/at-a-glance-4-11-06.pdf.
2.
Atrash HK, Johnson K, Adams M, Cordero JF, Howse J: Preconception care for improving perinatal outcomes: the time to act. Matern Child Health J 2006;10:S3–S11.
3.
Freda MC, Moos MK, Curtis M: The history of preconception care: evolving guidelines and standards. Matern Child Health J 2006;10:S43–S52.
4.
American Academy of Pediatrics, American College of Obstetricians and Gynecologists: Guidelines for Perinatal Care, ed 5. Elk Grove Village, IL, American Academy of Pediatrics, 2002.
5.
Shapira SK, Dolan S: Genetic risks to the mother and the infant: assessment, counseling, and management. Matern Child Health J 2006;10:S143–S146.
6.
Johnson K, Posner SF, Biermann J, Cordero JF, Atrash HK, Parker CS, Boulet S, Curtis MG, Centers for Disease Control and Prevention: Recommendations to improve preconception health and health care – United States. A report of the CDC/ATSDR Preconception Care Work Group and the Select Panel on Preconception Care. MMWR Recomm Rep 2006;55:1–23.
7.
Williams J, ACOG Committee on Practice Bulletins: Hemoglobinopathies in pregnancy – ACOG Practice Bulletin No. 78. Obstet Gynecol 2007;109:229–237.
8.
American College of Obstetricians and Gynecologists, American College of Medical Genetics: Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Washington, DC, ACOG; Bethesda, MD, ACMG, 2001.
9.
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ, Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, American College of Medical Genetics: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149–154.
10.
American College of Obstetricians and Gynecologists: Update on carrier screening for cystic fibrosis – ACOG Committee Opinion No. 325. Obstet Gynecol 2005;106:1465–1468.
11.
Pletcher BA, Gross SJ, Monaghan KG, Driscoll DA, Watson MS: The future is now: carrier screening for all populations. Genet Med 2008;10:33–36.
12.
Dunlop AL, Jack B, Frey K: National recommendations for preconception care: the essential role of the family physician. J Am Board Fam Med 2007;20:81–84.
13.
Warshauer-Baker E, Bonham VL, Jenkins J, Stevens N, Page Z, Odunlami A, McBride C: Physicians’ beliefs about the role of genetics in health differences and the importance of race/ethnicity and gender in clinical decision making. Community Genet 2008;11:352–358.
14.
Frey K, Files J: Preconception health care; what women know and believe. Matern Child Health J 2006;10:S73–S77.
15.
Moos MK: Preconceptional health promotion: progress in changing a prevention paradigm. J Perinat Neonat Nurs 2004;18:2–3.
16.
Tang H, Quertermous T, Rodriguez B, Kardia SL, Zhu X, Brown A, Pankow JS, Province MA, Hunt SC, Bowerwinkle E, Schork NJ, Risch NJ: Genetic structure, self-identified race/ethnicity and confounding in case-control association studies. Am J Hum Genet 2005;76:268–275.
17.
Bamshad M: Genetic influences on health – does race matter? JAMA 2005;294:937–946.
18.
Collins FS: What we do and don’t know about ‘race’, ‘ethnicity’, genetics and health at the dawn of the genome era. Nat Genet 2004;36:S13–S15.
19.
Grody WW, Cutting GR, Watson MS: The Cystic Fibrosis mutation ‘arms race’: when less is more. Genet Med 2007;9:739–744.
20.
Sugarman EA, Rohlfs EM, Silverman LM, Allito BA: CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004;6:392–399.
21.
Aspinall PJ, Dyson SM, Anionwu EN: The feasibility of using ethnicity as a primary tool for antenatal selective screening for sickle cell disorders: pointers from the research evidence. Soc Sci Med 2003;56:285–297.
22.
Gross SJ, Pletcher BA, Monaghan KG: Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 2008;10:54–56.
23.
American College of Obstetricians and Gynecologists Committee on Genetics: Screening for Tay-Sachs disease – Committee Opinion No. 318. Obstet Gynecol 2005;106:893–894.
24.
American College of Obstetricians and Gynecologists Committee on Genetics: Prenatal and preconception carrier screening for genetic diseases in individuals of Eastern European Jewish descent – ACOG Committee Opinion No. 298. Obstet Gynecol 2004;104:425–428.
25.
Braun L, Fausto-Sterling A, Fullwiley D, Hammonds EM, Nelson A, Quivers W, Reverby SM, Shields AE: Racial categories in medical practice: how useful are they? PLoS Med 2007;4:1423–1428.
26.
Barr DA: The practitioner’s dilemma: can we use a patient’s race to predict genetics, ancestry and the expected outcomes of treatment? Ann Intern Med 2005;143:809–815.
27.
Burchard EG, Ziv E, Coyle N, Gomez SL, Tang H, Karter AU, Mountain JL, Pérez-Stable EJ, Sheppard D, Risch N: The importance of race and ethnic background in biomedical research and clinical practice. N Engl J Med 2003;348:1170–1175.
28.
Cooper RS, Kaufman JS, Ward R: Race and genomics. N Engl J Med 2003;148:1166–1170.
29.
Jorde LB, Wooding SP: Genetic variation, classification and ‘race’. Nat Genet 2004;36:S28–S33.
30.
Gilbert F, Schoelkopf J, Li Z: Ethnic intermarriage and its consequences for cystic fibrosis carrier screening. Am J Prev Med 1995;11:251–255.
31.
VanGeest JB, Johnson TP, Welch VL: Methodologies for improving response rates in surveys of physicians. Eval Health Prof 2007;30:303–321.
32.
Atrash HK, Jack BW, Johnson K, Coonrod DV, Moos M, Stubblefield PG, Cefalo R, Damus K, Reddy UM: Where is the ‘W’oman in MCH? Am J Obstet Gynecol 2008;199:S259–S265.
33.
Solomon BD, Jack B, Feero WG: The clinical content of preconception care: genetics and genomics. Am J Obstet Gynecol 2008;199:S340–S344.
34.
Dolan SM, Moore C: Linking family history in obstetric and pediatric care: assessing risk for genetic disease and birth defects. Pediatrics 2007;120:S66–S70.
© 2009 S. Karger AG, Basel
2009
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.