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

Fam Cancer. 2010 Mar;9(1):43-50. doi: 10.1007/s10689-009-9243-y. Epub 2009 Apr 24.


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Attitude to Health
  • BRCA1 Protein / genetics*
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics
  • Counseling / ethics
  • Female
  • Genes, BRCA1 / physiology
  • Genetic Counseling / ethics*
  • Genetic Counseling / legislation & jurisprudence
  • Genetic Counseling / statistics & numerical data
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing / methods*
  • Health Behavior
  • Health Knowledge, Attitudes, Practice
  • Humans
  • Informed Consent
  • Mutation*
  • Patient Acceptance of Health Care
  • Patient Education as Topic
  • Practice Patterns, Physicians' / ethics
  • Primary Health Care
  • Risk
  • Risk Assessment
  • Women's Health*


  • BRCA1 Protein