A descriptive study of BRCA1 testing and reactions to disclosure of test results

Henry T. Lynch, Stephen J. Lemon, Carolyn Durham, Susan T. Tinley, Chris Connolly, Jane F. Lynch, Jonathan Surdam, Ernest Orinion, Sue Slominski-Caster, Patrice Watson, Caryn Lerman, Patricia Tonin, Gilbert Lenoir, Olga Serova, Steven Narod

Research output: Contribution to journalArticle

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Abstract

BACKGROUND. The identification of the BRCA1 gene is a powerful tool for predicting a patient's lifetime risk for carcinoma of the breast and ovary when she has hereditary breast/ovarian carcinoma (HBOC) syndrome. The process of BRCA1 testing and genetic counseling, and participants' reactions to test results, are described. METHODS. Education about the natural history of HBOC syndrome and the pros and cons of genetic testing was provided to 14 HBOC families comprised of 2549 bloodline relatives. Of these, 388 underwent DNA testing. After informed consent was given by participants, formal linkage analysis and gene mutation studies were performed on the families. Qualitative data on intentions and emotional reactions were collected by physicians/counselors during the genetic counseling sessions. RESULTS. Of those tested, 181 received their results after further genetic counseling. Seventy-eight of them were positive and 100 were negative for BRCA1 gene mutation. Three had ambiguous findings. The most common reasons given for seeking DNA testing were concern about risk to children and concern about surveillance and prevention. Prophylactic mastectomy was considered by 35% of women who tested positive, whereas prophylactic oophorectomy was considered an important option by 76%. Twenty-five percent of both BRCA1 positive and negative individuals were concerned about discrimination by insurance companies. Eighty percent of those who tested negative reported emotional relief, whereas over one-third of those who tested positive reported sadness, anger, or guilt. CONCLUSIONS. DNA testing of patients with HBOC syndrome must be performed in the context of genetic counseling. The authors' results demonstrate the many complex clinical and nonclinical issues that are important in this process.

Original languageEnglish
Pages (from-to)2219-2228
Number of pages10
JournalCancer
Volume79
Issue number11
DOIs
StatePublished - Jun 1 1997

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Disclosure
Genetic Counseling
Breast Neoplasms
BRCA1 Gene
DNA
Mutation
Guilt
Anger
Genetic Testing
Ovariectomy
Insurance
Natural History
Informed Consent
Ovary
Physicians
Education
Genes

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

A descriptive study of BRCA1 testing and reactions to disclosure of test results. / Lynch, Henry T.; Lemon, Stephen J.; Durham, Carolyn; Tinley, Susan T.; Connolly, Chris; Lynch, Jane F.; Surdam, Jonathan; Orinion, Ernest; Slominski-Caster, Sue; Watson, Patrice; Lerman, Caryn; Tonin, Patricia; Lenoir, Gilbert; Serova, Olga; Narod, Steven.

In: Cancer, Vol. 79, No. 11, 01.06.1997, p. 2219-2228.

Research output: Contribution to journalArticle

Lynch, HT, Lemon, SJ, Durham, C, Tinley, ST, Connolly, C, Lynch, JF, Surdam, J, Orinion, E, Slominski-Caster, S, Watson, P, Lerman, C, Tonin, P, Lenoir, G, Serova, O & Narod, S 1997, 'A descriptive study of BRCA1 testing and reactions to disclosure of test results', Cancer, vol. 79, no. 11, pp. 2219-2228. https://doi.org/10.1002/(SICI)1097-0142(19970601)79:11<2219::AID-CNCR21>3.0.CO;2-Y
Lynch, Henry T. ; Lemon, Stephen J. ; Durham, Carolyn ; Tinley, Susan T. ; Connolly, Chris ; Lynch, Jane F. ; Surdam, Jonathan ; Orinion, Ernest ; Slominski-Caster, Sue ; Watson, Patrice ; Lerman, Caryn ; Tonin, Patricia ; Lenoir, Gilbert ; Serova, Olga ; Narod, Steven. / A descriptive study of BRCA1 testing and reactions to disclosure of test results. In: Cancer. 1997 ; Vol. 79, No. 11. pp. 2219-2228.
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AU - Surdam, Jonathan

AU - Orinion, Ernest

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AU - Watson, Patrice

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AU - Tonin, Patricia

AU - Lenoir, Gilbert

AU - Serova, Olga

AU - Narod, Steven

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N2 - BACKGROUND. The identification of the BRCA1 gene is a powerful tool for predicting a patient's lifetime risk for carcinoma of the breast and ovary when she has hereditary breast/ovarian carcinoma (HBOC) syndrome. The process of BRCA1 testing and genetic counseling, and participants' reactions to test results, are described. METHODS. Education about the natural history of HBOC syndrome and the pros and cons of genetic testing was provided to 14 HBOC families comprised of 2549 bloodline relatives. Of these, 388 underwent DNA testing. After informed consent was given by participants, formal linkage analysis and gene mutation studies were performed on the families. Qualitative data on intentions and emotional reactions were collected by physicians/counselors during the genetic counseling sessions. RESULTS. Of those tested, 181 received their results after further genetic counseling. Seventy-eight of them were positive and 100 were negative for BRCA1 gene mutation. Three had ambiguous findings. The most common reasons given for seeking DNA testing were concern about risk to children and concern about surveillance and prevention. Prophylactic mastectomy was considered by 35% of women who tested positive, whereas prophylactic oophorectomy was considered an important option by 76%. Twenty-five percent of both BRCA1 positive and negative individuals were concerned about discrimination by insurance companies. Eighty percent of those who tested negative reported emotional relief, whereas over one-third of those who tested positive reported sadness, anger, or guilt. CONCLUSIONS. DNA testing of patients with HBOC syndrome must be performed in the context of genetic counseling. The authors' results demonstrate the many complex clinical and nonclinical issues that are important in this process.

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