Skip to main content

Advertisement

SpringerLink
Log in

Primary care providers’ willingness to recommend BRCA1/2 testing to adolescents

  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

Clinical practice guidelines discourage pediatric genetic testing for BRCA1/2 mutations due to a lack of timely medical benefit and psychosocial risk. Yet, some high risk families approach primary care providers (PCPs) about testing adolescents, and little is known about PCPs attitudes regarding these requests. We assessed recommendations for testing to a composite patient (a healthy 13-year-old female, mother is a BRCA mutation carrier) among 161 adolescent and family PCPs attending a national medical conference. Testing recommendations were measured with a multidimensional scale that assessed perspectives on informed consent, genetic counseling, and insurance coverage. PCPs expressed moderate willingness to recommend testing; surprisingly, 31% recommended adolescent testing “unconditionally.” In multivariable regression modeling, recommendation was positively associated with higher clinical practice volume (P < .05) and greater frequency of ordering other pediatric genetic tests (P < .01). Despite a decade of clinical practice guideline advice to the contrary, experienced PCPs may still be inclined to recommend BRCA1/2 genetic testing to adolescents from high risk families. When paired with emerging data on the relative safety and efficacy of breast cancer genetic testing for high risk women and the advent of direct-to-consumer marketing of BRCA1/2 cancer genetic tests, professional societies may need to explore best practices to counsel high risk families and their PCPs about the potential risks and benefits of pediatric BRCA1/2 testing.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A, Bonney G (1996) BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA 275:1885–1892. doi:10.1001/jama.275.24.1885

    Article  CAS  PubMed  Google Scholar 

  2. Lynch HT, Lemon SJ, Durham C et al (1997) A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer 79(11):2219–2228. doi:10.1002/(SICI)1097-0142(19970601)79:11<2219::AID-CNCR21>3.0.CO;2-Y

    Article  CAS  PubMed  Google Scholar 

  3. Patenaude AF, Dorval M, DiGianni LS, Schneider KA, Chittenden A, Garber JE (2006) Sharing BCRA1/2 test results with first-degree relatives: factors predicting who women tell. J Clin Oncol 24:700–706. doi:10.1200/JCO.2005.01.7541

    Article  PubMed  Google Scholar 

  4. Peshkin BN, DeMarco TA, Garber JE, et al. (2008) Brief assessment of parents’ attitudes toward testing minor children for hereditary breast/ovarian cancer genes: development and validation of the pediatric BRCA1/2 testing attitudes scale (P-TAS). J Pediatr Psychol 1–12

  5. Clarke A (1994) The genetic testing of children. Working party of the clinical genetics society (UK). J Med Genet 31(10):785–797. doi:10.1136/jmg.31.10.785

    Article  CAS  PubMed  Google Scholar 

  6. Informed Medical Decisions (2008) http://www.informeddna.com. Cited 20 Dec 2008

  7. American Society of Human Genetics (ASHG)/American College of Medical Genetics (ACMG) (1995) Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 57:1233–1241

    Google Scholar 

  8. American Academy of Pediatrics (AAP) Committee on Bioethics (2001) Ethical issues with genetic testing in pediatrics. Pediatrics 107:1451–1455. doi:10.1542/peds.107.6.1451

    Article  Google Scholar 

  9. American Societyof Clinical Oncology (2003) American society of clinical oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21:2397–2406. doi:10.1200/JCO.2003.03.189

    Article  Google Scholar 

  10. Borry P, Stultiens L, Nys H, Dierickx K (2007) Attitudes towards predictive genetic testing in minors for familial breast cancer: a systematic review. Crit Rev Oncol Hematol 64:173–181. doi:10.1016/j.critrevonc.2007.04.006

    Article  PubMed  Google Scholar 

  11. NCCN (2008) Breast cancer screening and diagnosis guidelines

  12. Bradbury AR, Patrick-Miller L, Pawlowski K et al (2008) Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspring. Am J Med Genet 148C:70–77. doi:10.1002/ajmg.c.30163

    Article  PubMed  Google Scholar 

  13. Arver B, Haegermark A, Platten U, Lindblom A, Brandberg Y (2004) Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up. Fam Cancer 3:109–116. doi:10.1023/B:FAME.0000039863.89137.f9

    Article  PubMed  Google Scholar 

  14. Collins V, Meiser B, Gaff C, St John DJ, Halliday J (2005) Screening and preventive behaviors 1 year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma. Cancer 104:273–281. doi:10.1002/cncr.21183

    Article  PubMed  Google Scholar 

  15. Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C (2002) Impact of BRCA1/BRCA2 mutation testing on psychological distress in a clinic-based sample. J Clin Oncol 20:514–520. doi:10.1200/JCO.20.2.514

    Article  PubMed  Google Scholar 

  16. van Dijk S, van Asperen CJ, Jacobi CE, Vink GR, Tibben A, Breuning MH et al (2004) Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk message. Genet Test 8:235–239. doi:10.1089/gte.2004.8.235

    Article  PubMed  Google Scholar 

  17. Richards M (1996) Family, kinship and genetics. In: Marteau T, Richards M (eds) The troubled helix: social and psychological implications. Cambridge University Press, Cambridge

    Google Scholar 

  18. Borry P, Stultiens L, Nys H, Cassiman JJ, Dierickx K (2006) Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 70:374–381. doi:10.1111/j.1399-0004.2006.00692.x

    Article  CAS  PubMed  Google Scholar 

  19. Wilfond B, Ross LF (2008) From genetics to genomics: ethics, policy and parental decision-making. J Pediatr Psychol. doi:10.1093/jpepsy/jsn075

  20. Tercyak KP, Peshkin BN, Streisand R, Lerman C (2001) Psychological issues among children of hereditary breast cancer gene (BRCA1/2) testing participants. Psychooncology 10:336–346. doi:10.1002/pon.531

    Article  CAS  PubMed  Google Scholar 

  21. Tercyak KP, Peshkin BN, DeMarco TA, Brogan BM, Lerman C (2002) Parent-child factors and their effect on communicating BRCA1/2 test results to children. Patient Educ Couns 47(2):145–153. doi:10.1016/S0738-3991(01)00192-6

    Article  PubMed  Google Scholar 

  22. Hughes C, Lynch H, Durham C et al (1999) Communication of BRCA1/2 test results in hereditary breast cancer families. Cancer Res Ther Contr 8:51–59

    Google Scholar 

  23. McGivern B, Everett J, Yager GG, Baumiller RC, Hafertepen A, Saal HM (2004) Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med 6(6):503. doi:10.1097/01.GIM.0000144014.91237.A1

    Article  CAS  PubMed  Google Scholar 

  24. Bradbury AR, Dignam JJ, Ibe CN et al (2007) How often do BRCA mutation carriers tell their young children of the family’s risk for cancer? A study of parental disclosure of BRCA mutations to minors and young adults. J Clin Oncol 25(24):3705–3711. doi:10.1200/JCO.2006.09.1900

    Article  PubMed  Google Scholar 

  25. Hamann HA, Croyle RT, Venne VL, Baty BJ, Smith KR, Botkin JR (2000) Attitudes toward the genetic testing of children among adults in a Utah-based kindred tested for a BRCA1 mutation. Am J Med Genet 92(1):25–32. doi:10.1002/(SICI)1096-8628(20000501)92:1<25::AID-AJMG5>3.0.CO;2-Y

    Article  CAS  PubMed  Google Scholar 

  26. Friedman S (2008) Hereditary cancer: how do I tell my children? Facing our risk of cancer empowered newsletter. Retrieved from http://www.facingourrisk.org/newsletter/2008winter/hereditary_cancer.html

  27. Harel A, Abuelo D, Kazura A (2003) Adolescents and genetic testing: what do they think about it? J Adolesc Health 33:489–494. doi:10.1016/S1054-139X(03)00135-6

    Article  PubMed  Google Scholar 

  28. Cappelli M, Verma S, Korneluk Y et al (2005) Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer. Clin Genet 67:481–491. doi:10.1111/j.1399-0004.2005.00456.x

    Article  CAS  PubMed  Google Scholar 

  29. Campbell E, Ross LF (2003) Professional and personal opinions about access and confidentiality in the genetic testing of children: a pilot study. Genet Test 7(2):123–130. doi:10.1089/109065703322146803

    Article  PubMed  Google Scholar 

  30. Borry P, Goffin T, Nys H, Dierickx K (2008) Attitudes regarding predictive genetic testing in minors: a survey of European clinical geneticists. Am J Med Genet 148C:78–83. doi:10.1002/ajmg.c.30165

    Article  PubMed  Google Scholar 

  31. Direct DNA (2008) http://www.dnadirect.com. Cited 20 Dec 2008

  32. 23andme (2008) https://www.23andme.com. Cited 20 Dec 2008

  33. Tercyak KP, Peshkin BN, Abraham A, Wine L, Walker LR (2007) Interest in genetic counseling and testing for adolescent nicotine addiction susceptibility among a sample of adolescent medicine providers attending a scientific conference on adolescent health. J Adolesc Health 41:42–50. doi:10.1016/j.jadohealth.2007.02.017

    Article  PubMed  Google Scholar 

  34. O’Neill SC, Luta G, Peshkin BN, Abraham A, Walker L, Tercyak K (2008) Adolescent medical providers’ willingness to offer genetic susceptibility testing: influence of disease, lifestyle and other factors. J Pediatr Psychol. doi:10.1093/jpepsy/jsn086

  35. Lerman C, Croyle RT, Tercyak KP, Hamann H (2002) Genetic testing: psychological aspects and implications. J Consult Clin Psychol 70(3):784–797. doi:10.1037/0022-006X.70.3.784

    Article  PubMed  Google Scholar 

  36. Persky S, Kaphingst K, Condit C, McBride C (1997) Assessing hypothetical scenario methodology in genetic susceptibility testing analog studies: a quantitative review. Genet Med 9(11):727–738. doi:10.1097/GIM.0b013e318159a344

    Article  Google Scholar 

  37. Peshkin BN, Isaacs C, Finch C, Kent S, Schwartz MD (2003) Tamoxifen as chemoprevention in BRCA1 and BRCA2 mutation carriers with breast cancer: a pilot survey of physicians. J Clin Oncol 21(23):4322–4328. doi:10.1200/JCO.2003.02.107

    Article  CAS  PubMed  Google Scholar 

  38. White DB, Bonham VL, Jenkins J, Stevens N, McBride CM (2008) Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiol Biomarkers Prev 17(11):2980–2986. doi:10.1158/1055-9965.EPI-07-2879

    Article  PubMed  Google Scholar 

  39. Freedman ML, Penney KL, Stram DO et al (2004) Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the multiethnic cohort. Hum Mol Genet 13(20):2431–2441. doi:10.1093/hmg/ddh270

    Article  CAS  PubMed  Google Scholar 

  40. Park ER, Kleimann S, Pelan JA, Shields AE (2007) Anticipating clinical integration of genetically tailored dependence treatment: perspectives of primary care physicians. Nicotine Tob Res 9:271–279. doi:10.1080/14622200601078574

    Article  PubMed  Google Scholar 

  41. Elster AB, Kuznets NJ (1994) AMA guidelines for adolescent preventive services (GAPS): recommendations and rationale. Williams and Wilkins, Baltimore

    Google Scholar 

  42. Ferguson SL (1999) Every child deserves bright futures. J Pediatr Nurs 14:123–124. doi:10.1016/S0882-5963(99)80046-3

    Article  CAS  PubMed  Google Scholar 

  43. Guttmacher AE, Porteous ME, McInerney JD (2007) Educating health-care professionals about genetics and genomics. Nature 8:151–157

    CAS  Google Scholar 

  44. Clarke S, Butler J, Esplen MJ (2008) The phases of disclosing BRCA1/2 genetic information to offspring. Psychooncology 17(8):797–803. doi:10.1002/pon.1344

    Article  PubMed  Google Scholar 

  45. Metcalfe A, Coad J, Plumridge GM, Gill P, Farndon P (2008) Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research. Eur J Hum Genet 16(10):1193–1200. doi:10.1038/ejhg.2008.84

    Article  PubMed  Google Scholar 

  46. American Board of Pediatrics (2005) Career survey 2005. Adolescent medicine examination, first time applicants. Unpublished data

  47. Ropka ME, Wenzel J, Phillips EK, Siadaty M, Philbrick JT (2006) Uptake rates for breast cancer genetic testing: a systematic review. Cancer Epidemiol Biomarkers Prev 15(5):840–855. doi:10.1158/1055-9965.EPI-05-0002

    Article  PubMed  Google Scholar 

  48. Foster C, Watson M, Eeles R, Eccles D, Ashley S, Davidson R, Mackay J, Morrison PJ, Hopwood P, Evans DG, Psychosocial Study Collaborators (2007) Predictive genetic testing for BRCA1/2 in a UK clinical cohort: 3-year follow-up. Br J Cancer 96(5):718–724. doi:10.1038/sj.bjc.6603610

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

The authors would like to thank the volunteers and staff who participated in this research. This work was supported, in part, by grant CA91831 from the National Cancer Institute at the National Institutes of Health (to K. P. T).

Author information

Authors and Affiliations

  1. Cancer Control Program, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, 3300 Whitehaven St., NW, Suite 4100, Washington, DC, 20007, USA

    Suzanne C. O’Neill, Beth N. Peshkin, George Luta & Kenneth P. Tercyak

  2. Department of Pediatrics, Georgetown University Medical Center, Washington, DC, USA

    Anisha Abraham

  3. Department of Pediatrics, Seattle Children’s Hospital, Seattle, WA, USA

    Leslie R. Walker

Authors
  1. Suzanne C. O’Neill
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Beth N. Peshkin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. George Luta
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Anisha Abraham
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Leslie R. Walker
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Kenneth P. Tercyak
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Suzanne C. O’Neill.

Rights and permissions

Reprints and permissions

About this article

Cite this article

O’Neill, S.C., Peshkin, B.N., Luta, G. et al. Primary care providers’ willingness to recommend BRCA1/2 testing to adolescents. Familial Cancer 9, 43–50 (2010). https://doi.org/10.1007/s10689-009-9243-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-009-9243-y

Keywords

Search

Navigation