BRCA1 Testing in Families With Hereditary Breast-Ovarian Cancer

Lerman, Caryn; Narod, Steven A.; Schulman, Kevin A.; Hughes, Chanita; Gomez-Caminero, Andres; Bonney, George E.; Gold, Karen; Trock, Bruce J.; Main, David; Lynch, Jane F.; Fulmore, Cecil; Snyder, Carrie; Lemon, Stephen J.; Conway, Theresa; Tonin, Patricia N.; Lenoir, Gilbert; Lynch, Henry T.

doi:10.1001/jama.1996.03530480027036

Cited by 620 publications

(136 citation statements)

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“…53 Other studies have not reported any change in psychological risk with positive test results. 32,33,40,[57][58][59][60][61][62] Nonetheless, women who test positive for BRCA1/BRCA2 are also often met with resistance, shock, and other negative emotions from family members. [63][64][65][66] Similarly studies of individuals undergoing HNPCC testing demonstrate that the individual experiences of both unaffected and affected carriers are varied, but the majority experience an overall decrease in anxiety and depression.…”

Section: Impact Of Genetic Test Resultsmentioning

confidence: 99%

“…[35][36][37] Uptake of genetic testing for HNPCC is also associated with higher perceived risk of cancer and more frequent thoughts about cancer. 38 Beyond higher perceived breast or ovarian cancer risk, 35,39 other important predictors of uptake of genetic testing include a history of cancer, a greater number of affected family members, 40 and having children. 41 It has been reported that some unaffected individuals from high-risk cancer families who seek cancer genetic testing but are ineligible for it still have high anxiety.…”

Section: Psychiatric Predictors Of Genetic Testingmentioning

confidence: 99%

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Psychiatric implications of cancer genetic testing

Hirschberg

Chan‐Smutko

Pirl

2014

Cancer

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As genetic testing for hereditary cancer syndromes has transitioned from research to clinical settings, research regarding its accompanying psychosocial effects has grown. Men and women being tested for hereditary cancer syndromes may experience some psychological distress while going through the process of testing or after carrier status is identified. Psychological distress appears to decrease over the course of the first year and it is typically not clinically significant. Longer term studies show mixed results with some mutation carriers continuing to experience elevated distress. Baseline distress is the greatest risk factor for both immediate (weeks-12 months) and long-term psychological distress (18 mo-8 years post genetic testing). In addition to baseline psychological distress, other risk factors can be identified to help identify individuals who may need psychosocial interventions during the genetic testing process. The challenges of providing clinical care to the growing population of individuals identified to be at increased risk for heritable cancers present opportunities for research and new models of care. Cancer 2015;121:341-60. V C 2014 American Cancer Society.KEYWORDS: BRCA1, BRCA2, HNPCC, Lynch syndrome, genetic testing, unaffected carrier, carrier, hereditary cancer syndrome, riskreducing surgeries, psychosocial. INTRODUCTIONSeveral familial cancer syndromes that confer a high lifetime risk of cancer can be identified with genetic testing, and greater numbers of men and women will consider testing as the availability and public awareness of genetic testing for cancer susceptibility continue to increase. Research to date suggests that these individuals will have varied emotional responses to the process of genetic testing as well as its results.When genetic testing for cancer syndromes first transitioned from research protocols to clinics, there was initial concern that it would be similar to genetic testing for Huntington disease. Many worried that knowing they are at high risk for cancer in the future may be too distressing for some individuals, possibly even leading to suicide. However, several systematic reviews focusing primarily on hereditary breast and ovarian cancer (HBOC) and Lynch syndrome, also known as hereditary nonpolyposis colon cancer (HNPCC), have demonstrated that most individuals who have a mutation identified in an associated gene cope well with the knowledge of their genetic status. 1-3 Data regarding psychological implications of the genetic testing process are the most robust for women who present for HBOC risk assessment, which involves discussion of the BRCA1 and BRCA2 genes, although there are increasing studies for HNPCC, familial adenomatous polyposis (FAP), and other hereditary cancer syndromes.Although the rates of distress in individuals undergoing genetic testing vary, they appear to be relatively small. Studies have demonstrated that approximately 6% to 24% of individuals undergoing genetic testing for a BRCA1/BRCA2-associated or HNPCC-associated mutations repo...

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Section: Impact Of Genetic Test Resultsmentioning

confidence: 99%

Section: Psychiatric Predictors Of Genetic Testingmentioning

confidence: 99%

Psychiatric implications of cancer genetic testing

Hirschberg

Chan‐Smutko

Pirl

2014

Cancer

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“…Breast cancer genetics knowledge Before and after the consultation, an eight-item true -false measure derived from one developed by Lerman et al (1996) assessed knowledge about breast cancer genetics.…”

Section: Discussionmentioning

confidence: 99%

Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes

et al. 2004

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This longitudinal study aimed to document (i) the information-giving and patient-communication styles of clinical geneticists and genetic counsellors (consultants) in familial breast cancer clinics and (ii) assess the effect of these styles on women's knowledge, whether their expectations were met, satisfaction, risk perception and psychological status. A total of 158 women from high-risk breast cancer families completed self-report questionnaires at 2 weeks preconsultation and 4 weeks postconsultation. The consultations were audiotaped, transcribed and coded. Multivariate logistic regressions showed that discussing prophylactic mastectomy (P ¼ 0.00) and oophorectomy (P ¼ 0.01) led to women having significantly more expectations met; discussing genetic testing significantly decreased anxiety (P ¼ 0.03) and facilitating understanding significantly decreased depression (P ¼ 0.05). Receiving a summary letter of the consultation significantly lowered anxiety (P ¼ 0.01) and significantly increased the accuracy of perceived risk (P ¼ 0.02). Women whose consultant used more supportive communications experienced significantly more anxiety about breast cancer at the 4 weeks follow-up (P ¼ 0.00). These women were not significantly more anxious before genetic counselling. In conclusion, this study found that consultants vary in the amount of information they give and the way they communicate; and this variation can result in better or worse psychosocial outcomes. Greater use of supportive and counselling communications appeared to increase anxiety about breast cancer. Identifying methods to assist consultants to address emotional issues effectively may be helpful. Outcome studies in genetic counselling have largely relied on women's subjective assessment of the content and process of counselling, with few including an objective measure of what actually happened during the consultation. Furthermore, outcomes are often restricted to measures of satisfaction and understanding of risk. Such studies create a rather simplistic view of the goals of genetic counselling (Emery et al, 1972;Kessler, 1981). Furthermore, many of these studies did not evaluate the role of patient's sociodemographic factors (Evers Kiebooms and Van den Berghe, 1979;Marteau and Richards, 1996). The samples comprised women being counselled for a wide array of conditions, including chromosomal, autosomal recessive and a small proportion of autosomal dominant conditions, did not adequately control for or measure counsellor variability and used ad hoc measures of patient's input and outcome variables (Michie, 1993).The current study describes the process of genetic counselling for women from familial breast cancer families as shown by the analysis of audiotapes of counselling consultations. It examines the effect of different consultant communication styles on a variety of outcomes.It was hypothesised that the more the consultant facilitated communication and the more information was provided, the better would be patient outcomes; (a) higher knowledge; (b) mor...

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“…The scale is a revised version of a measure previously used in a study on the psychological impact of BRCA1 testing (Lerman et al, 1996). The scale has been found in previous studies to have moderate internal consistency with Cronbach's co-efficient alpha of 0.59 .…”

Section: Methodsmentioning

confidence: 99%

“…Studies that have examined levels of breast cancer genetics knowledge among women with a family history of breast cancer (Lerman et al, 1996Hughes et al, 1997;Wonderlick and Fine, 1997;Cull et al, 1998;Bluman et al, 1999;Donovan and Tucker, 2000) have found wide variation in knowledge about many facets of genetic testing, including the cancer risks associated with different genes and different mutations and the effectiveness of interventions, for example screening, chemoprevention, or surgery for reducing risk (Geller et al, 1997;Audrain et al, 1998;Bluman et al, 1999).…”

mentioning

confidence: 99%

Tailoring communication in consultations with women from high risk breast cancer families

et al. 2002

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This multicentre study examined the influence of patient demographic, disease status and psychological variables on clinical geneticists/genetic counsellors (consultants) behaviours in initial consultations with women from high-risk breast cancer families. One hundred and fifty-eight women completed a pre-clinic self-report questionnaire. The consultations were audiotaped, transcribed verbatim and coded. Consultants did not vary their behaviour according to women's expectations. However, significantly more aspects of genetic testing were discussed with women who were affected with breast cancer (P50.001), screening and management with unaffected women (P=0.01) and breast cancer prevention with younger women (P=0.01). Prophylactic mastectomy was discussed more frequently with women with medical and allied health training (P=0.02), and prophylactic oophorectomy with women affected with breast cancer (P=0.03), those in non-professional occupations (P=0.04) and with a family history of breast and ovarian cancer (P50.001). Consultants used significantly more behaviours to facilitate understanding with women who were in non-professional occupations (P=0.04); facilitated active patient involvement more with women affected with breast cancer (P50.001) and used more supportive and counselling behaviours with affected women (P=0.02). This study showed that patient demographics were more likely to predict consultants' communication behaviours than the woman's psychological status. Methods to facilitate assessment of psychological morbidity are needed to allow more tailored communication. Previous research has documented consultants' reports of the cancer genetic services typically provided to women from high-risk breast cancer families. These include cancer risk assessment and education, facilitation of genetic testing, pre-and post-test counselling, provision of personally tailored cancer risk management recommendations, and psychosocial counselling and support services (NH and MRC, 1999).A recent survey of Australian clinical geneticists and genetic counsellors identified the provision of individualised care as the single most important goal of genetic counselling (Lobb et al, 2001). These consultants emphasised the variability in women's current levels of expectations and needs when they attend genetic counselling and the importance of tailoring communication accordingly.Studies that have examined levels of breast cancer genetics knowledge among women with a family history of breast cancer (Lerman et al, 1996Hughes et al, 1997;Wonderlick and Fine, 1997;Cull et al, 1998;Bluman et al, 1999;Donovan and Tucker, 2000) have found wide variation in knowledge about many facets of genetic testing, including the cancer risks associated with different genes and different mutations and the effectiveness of interventions, for example screening, chemoprevention, or surgery for reducing risk (Geller et al, 1997;Audrain et al, 1998;Bluman et al, 1999).Similarly, there is wide variation in the accuracy of women's perceptions of their li...

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BRCA1 Testing in Families With Hereditary Breast-Ovarian Cancer

Cited by 620 publications

References 30 publications

Psychiatric implications of cancer genetic testing

Psychiatric implications of cancer genetic testing

Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes

Tailoring communication in consultations with women from high risk breast cancer families

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