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

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.

journal_name

Cancer

journal_title

Cancer

authors

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

doi

10.1002/(sici)1097-0142(19970601)79:11<2219::aid-c

subject

Has Abstract

pub_date

1997-06-01 00:00:00

pages

2219-28

issue

eissn

0008-543X

issn

1097-0142

pii

10.1002/(SICI)1097-0142(19970601)79:11<2219::AID-C

journal_volume

pub_type

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