Communicating genetic risk: pros, cons, and counsel.
Shortly before his death in 1995, Kenneth B. Schwartz, a cancer patient at Massachusetts General Hospital (MGH), founded The Kenneth B. Schwartz Center at MGH. The Schwartz Center is a non-profit organization dedicated to supporting and advancing compassionate health care delivery, which provides hope to the patient, support to caregivers, and encourages the healing process. The center sponsors the Schwartz Center Rounds, a monthly multidisciplinary forum where caregivers reflect on important psychosocial issues faced by patients, their families, and their caregivers, and gain insight and support from fellow staff members. This case is of a woman with a personal, and a strong family history of breast cancer, who considered genetic testing for mutations in the BRCA1 and BRCA2 genes. The details of the case have been altered to protect the patient's anonymity. The patient was very anxious and there was disagreement between her healthcare providers about the potential benefits of genetic testing. The discussion of the case focused on several controversial issues, particularly the ownership of genetic information, and who is responsible for disseminating information to the family members at risk. The difficulties in communicating risk, providing emotional support and coping with the continuing uncertainties about screening and intervention are reviewed with an overview of the molecular biology, inheritance, and epidemiology of the BRCA1 and BRCA2 genes.
Penson
R T
RT
Hematology-Oncology Department, Massachusetts General Hospital, Boston, Massachusetts, USA. rpenson@partners.org
Seiden
M V
MV
Shannon
K M
KM
Lubratovich
M L
ML
Roche
M
M
Chabner
B A
BA
Lynch
T J
TJ
D000223:Adaptation, Psychological; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics* / Q000523:psychology; D003142:Communication; D004644:Emotions; D005260:Female; D019398:Genes, BRCA1; D016147:Genes, Tumor Suppressor; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics; D010375:Pedigree; D011369:Professional-Patient Relations; D018570:Risk Assessment; D014157:Transcription Factors / Q000235:genetics
D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors