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

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

doi:10.1002/(sici)1097-0142(19970601)79:11<2219::aid-cncr21>3.0.co;2-y

Cited by 197 publications

(103 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…20,50 FAP is an early-onset disease which may influence testing at a young age, 51 compared with BRCA testing which is typically not recommended before the age of 25 years. 52 A 2009 study showed that less than half of clinics surveyed that perform PGD and require genetic counseling assessed how well patients understood the information disclosed during a counseling session. 53 Thus, one approach to informing highrisk consumers about PGD and the associated risks and benefits may be through the development of standardized protocols to disseminate consistent, accurate information and support patients' psychological concerns.…”

Section: Acceptability Of Pgd Among High-risk Consumersmentioning

confidence: 99%

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

Quinn

Pal

Murphy

et al. 2012

Genetics in Medicine

View full text Add to dashboard Cite

Individuals carrying deleterious germline mutations placing them at increased risk for hereditary cancer syndromes (high-risk consumers) often have a great deal of fear and concern over transmitting mutations to their offspring, particularly conditions which are autosomal dominant. Preimplantation genetic diagnosis (PGD) is a procedure that can detect certain germline cancer predisposing mutations present in embryos. The objective of this review was to assess high-risk consumers' knowledge and perceptions of PGD for hereditary cancers. A systematic literature review was conducted through PubMed, Wiley Interscience, PsychInfo, and Cochrane Library databases to identify all articles assessing consumer knowledge and attitudes of PGD for hereditary cancer syndromes. We assessed heterogeneity and the robustness of findings through additional analyses according to study location, hereditary cancer type, and sample size. Thirteen articles remained eligible after the application of specific criteria. Results show a general low level of knowledge about PGD for hereditary cancers, moderate rates of acceptability among high-risk groups, and high levels of need for information about PGD. Individuals in specific risk groups such as those with a personal or family history of hereditary breast and ovarian cancer (HBOC) syndrome or familial adenomatous polyposis (FAP) may benefit from educational information from healthcare professionals about the use of PGD. 2012:14(2):191-200 Genet Med

show abstract

Section: Acceptability Of Pgd Among High-risk Consumersmentioning

confidence: 99%

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

Quinn

Pal

Murphy

et al. 2012

Genetics in Medicine

View full text Add to dashboard Cite

show abstract

“…12,13,17,20,21,23,24 Indeed, one study showed that individuals with suspected HBOC are initially motivated to undergo genetic testing for the express purpose of generating genetic information for relatives. 13 A conflicting obligation reported is the protection of family from psychological or other harm (such as insurance discrimination 22,41 or causing an upset within the family 20 ) that may arise from this knowledge. 15,18,20,21,31 Thus a primary concern around communication may be at the best interests of relatives; however, the complexity of individual perceptions, familial context and relationships, community and cultural context and of genetic information itself may leave individuals unsure how to meet these best interests.…”

Section: Certainty Of Hboc Genetic Informationmentioning

confidence: 99%

Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information

2009

View full text Add to dashboard Cite

What factors influence intrafamilial communication of hereditary breast and ovarian cancer (HBOC) genetic risk information? Such information can have health implications for individuals who undergo genetic testing, but it can also have implications for their blood relatives. This literature review adopts an ecological model to summarize factors at the individual, familial, and community levels, as well as cross cutting factors relating to the complexity of HBOC genetic information and responsibilities that this information can give rise to. These factors are complex and may result in conflicting senses of responsibility. Faced with the task of communicating HBOC genetic information, the response may be to attempt to balance the potential negative impact of the information on the well-being of the informee (eg, can s/he handle this information?) against the potential health benefit that the knowledge could result in. This balancing represents an effort to reconcile conflicting approaches to protecting family members, and is a moral dilemma. This review sheds light on the factors that contribute to resolve this dilemma. Keywords: BRCA 1/2; ecological; hereditary breast and ovarian cancer; genetic information; family; communication IntroductionHereditary breast and ovarian cancer (HBOC) genetic information has relevance not only for those who undergo genetic testing, but also for their genetic relatives. In light of this, intrafamilial communication of HBOC genetic information is important; but it is also highly complex and many factors weigh into the decision to communicate and the process of communication. This article is a review of factors influencing intrafamilial communication of HBOC genetic information. We adopt an 'ecological' model to categorize influencing factors at the individual, familial and community levels. Cross-cutting factors are also included, such as the complexity of the information and responsibilities that the information can give rise to (see Table 1). Improving the understanding of the factors that influence intrafamilial communication of genetic information may serve to guide genetics professionals and patients in decision making when it comes to intrafamilial communication and assist in the development of policy in this area. It may also help to guide the development of guidelines, particularly as there is a lack of guidance dealing specifically with intrafamilial communication of HBOC genetic information and genetic information more generally. This is especially important given the rapid development of new technologies for generating genetic information and the potential impact of this increase in information on families. This review is undertaken in the context of HBOC genetic information that living adults obtain in a clinical context. It does not consider communication with minor children, information about deceased adults or information generated in a research context. It also excludes studies of or theories on direct communication with family members by health professionals, 1,2 c...

show abstract

“…4 -6 However, because these reports only assessed psychologic distress using various self-rating questionnaires, it is difficult to compare the rates of clinically significant psychologic distress after a primary diagnosis of sporadic cancer (14 -38%) [7][8][9] or the prevalence of current posttraumatic stress disorder (PTSD) (2.5-6.0%) among breast carcinoma survivors. 10,11 Similarly, although feelings of guilt are a known, specific psychosocial response among individuals undergoing genetic testing, 12,13 previous reports were based on anectodotal experience. 13 Therefore, to our knowledge, no studies to date have investigated the degree or persistence of feelings of guilt in detail after the disclosure of genetic test results.…”

mentioning

confidence: 99%

“…10,11 Similarly, although feelings of guilt are a known, specific psychosocial response among individuals undergoing genetic testing, 12,13 previous reports were based on anectodotal experience. 13 Therefore, to our knowledge, no studies to date have investigated the degree or persistence of feelings of guilt in detail after the disclosure of genetic test results.…”

mentioning

confidence: 99%

Psychologic distress after disclosure of genetic test results regarding hereditary nonpolyposis colorectal carcinoma

Murakami

Okamura

Sugano

et al. 2004

Cancer

View full text Add to dashboard Cite

BACKGROUNDTo the authors' knowledge, there have been few studies of the psychologic distress after disclosure of genetic test results for hereditary nonpolyposis colorectal carcinoma (HNPCC). The objectives of this study were to identify the prevalence rates and predictors of psychologic distress and to evaluate the feelings of guilt after disclosure of the test results in Japanese probands and unaffected relatives.METHODSProbands and unaffected relatives were interviewed immediately after the first genetic counseling session for HNPCC and again 1 month after disclosure of the genetic test results. The prevalence of major and minor depression, acute stress disorder (ASD), posttraumatic stress disorder (PTSD), and posttraumatic stress symptoms (PTSS) were assessed using the Structured Clinical Interview based on the Diagnostic and Statistical Manual of Mental Disorders, 3rd edition revised (DSM‐III‐R) or the DSM‐IV; feelings of guilt were investigated using a numeric scale and a semistructured interview.RESULTSAmong 47 participants who completed the baseline interview, 42 participants (89%) completed the 1‐month follow‐up interview. Although none of the participants met the criteria for major depression, ASD, or PTSD at the follow‐up interview, 3 of 42 participants (7%) met the criteria for minor depression and 2 participants (5%) had PTSS. The only predictor of psychologic distress found was the presence of a history of major or minor depression (odds ratio, 19.41; 95% confidence interval, 1.42–264.95; P < 0.05). Five of 42 participants (12%) had feelings of guilt.CONCLUSIONSDisclosure of genetic test results for HNPCC may not cause significant psychologic distress in Japanese probands or relatives. However, healthcare providers should not neglect to assess these individuals for psychologic responses, such as minor depression and PTSS. Cancer 2004. © 2004 American Cancer Society.

show abstract

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

Abstract: 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.

Cited by 197 publications

References 13 publications

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information

Psychologic distress after disclosure of genetic test results regarding hereditary nonpolyposis colorectal carcinoma

Contact Info

Product

Resources

About