Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients

Landsbergen, K. M.; Verhaak, Chris M.; Kraaimaat, F.W.; Hoogerbrugge, Nicoline

doi:10.1007/s10689-004-7991-2

Cited by 60 publications

(70 citation statements)

References 9 publications

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“…24 This is consistent with the little previous research that has been conducted, which suggests that relatives who decline/defer testing may do so because they are not yet ready to take a BRCA1/2 test, they do not yet have children whom they feel obliged to pursue testing for and/or because of their lesser concerns for their own health as they have not yet reached the age of greatest HBOC risk. 13,14,25 Such factors may lessen the perceived benefits of testing for self and others and consequently reduce interest in taking the test.…”

Section: Discussionmentioning

confidence: 99%

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Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis

et al. 2010

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Genetic testing for hereditary breast and ovarian cancer reveals significant risk information regarding one's chances of developing cancer that has potential implications for patients and their families. This study reports on the motivations and attitudes of index patients and their relatives towards genetic testing for hereditary breast and ovarian cancer. In total, 10 female index patients and 20 of their relatives were interviewed regarding their experiences of communicating genetic information within their families, and their motivations and attitudes towards genetic testing. The analysis found two types of 'family groups': groups strongly committed to genetic testing and groups uncertain about testing. Within committed family groups, index patients and their relatives felt obliged to be tested for others, leading some relatives to be tested without having fully thought through their decision or the implications of knowing their mutation status. These family groups also described considerations in relation to the value of testing for themselves. In family groups uncertain about testing, relatives had not attended for predictive testing, had postponed decision making until some point in the future or had expressed ambivalence about the value of testing for themselves. Results suggest the value of explicitly acknowledging motivations for genetic testing within the context of family obligations, relationships and communication, and the possible value of involving family members in genetic counselling and decision making from a family's first contact with genetic services. INTRODUCTIONGenetic testing for hereditary breast and ovarian cancer (HBOC) reveals significant risk information and has potential implications for both patients and their families. In the United Kingdom, genetic testing for HBOC is only offered to individuals with a strong family history of cancer, in which there is at least a 20% chance of finding a cancer predisposing gene mutation. 1 For an unaffected person to be eligible for a genetic test for cancer predisposition, a pathogenic mutation first needs to be identified in a relative with cancer; the 'index patient' .At genetic counselling, it is suggested that individuals found to carry a BRCA1/2 mutation may wish to inform relatives of the result and the availability of screening and predictive genetic testing, thereby having a central role in facilitating informed decision making and risk management options for others. Thus, the genetic status of an individual has biological, psychological and relational implications for family members.The existing literature on motivations and decision making in genetic testing is largely explored in isolation from the family context and without consideration of the influence that family communication and relationships may have on individuals. Research suggests that family communication of genetic risk information is highly selective, with regard to both what is told and to whom, which may influence the decisions of relatives to seek treatment or screen...

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Section: Discussionmentioning

confidence: 99%

“…13,14 Genetic information can be very detailed and complicated, and misconceptions about inheritance and genetics abound in the public consciousness. 15 Information given to patients by clinicians will be assimilated with preexisting knowledge about genetics when being conveyed to family members.…”

Section: Introductionmentioning

confidence: 99%

Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis

et al. 2010

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“…15 This is less commonly documented in the literature and the outcome of communication is often defined by the number of at-risk family members that contact the genetic services. 9 The frequency of contact is estimated to be between 20 and 40%, 18,19 and whereas barriers and facilitators to communication are well documented, 20 -24 the reason at-risk family members do not contact the genetic services is largely unknown. Exploration of families' experiences may further illuminate the process of communicating genetic information and provide evidence-based information for health professionals involved in the provision of genetic services.…”

Section: Introductionmentioning

confidence: 99%

Health first, genetics second: exploring families' experiences of communicating genetic information

et al. 2008

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Genetic information may have health and reproductive implications for the proband and their family members. The responsibility for communicating this information within families generally lies with the proband or consultand. Previous research has explored the barriers and facilitators to communication, particularly in families affected with familial cancer syndromes. This study is an exploration of families' experiences, which aims to elucidate the process of communicating genetic information in families affected with non-cancer genetic conditions. The methodology involved 12 semi-structured interviews with probands, consultands and their family members. There were six different genetic conditions present in the families: adrenoleukodystrophy (n ¼ 3), cystic fibrosis (n ¼ 3), fragile X syndrome (n ¼ 1), haemochromatosis (n ¼ 1), balanced reciprocal chromosomal translocation (n ¼ 3) and Robertsonian chromosomal translocation (n ¼ 1). The results presented arise from two key themes, (1) the diagnosis and (2) post diagnosis. The interview data illustrate that the time of the diagnosis is a traumatic experience for families and that communication stimulated by this event revolves around informing family members about the diagnosis, but not warning them of their genetic risk. Post diagnosis, the collection of information about the genetic condition and continued communication to more distant family members, often using pre-existing family communication patterns, enables the continuation of communication about the genetic condition.

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“…Whether this family communication actually occurs has been questioned, because of a lack of relatives presenting to genetic services for care. 2 Previous research on how families communicate genetic information has demonstrated that first-degree relatives are most commonly informed in comparison with second-and third-degree relatives who are informed less frequently. [3][4][5][6][7] Communication is often undertaken by women 8 and may follow gender lines, especially for familial breast and ovarian cancer and for X-linked conditions.…”

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confidence: 99%

Increased genetic counseling support improves communication of genetic information in families

Forrest

Burke

Bacic

et al. 2008

Genetics in Medicine

109

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Purpose: To determine whether the provision of additional genetic counseling support could improve the uptake of genetic services by "at-risk" relatives of probands. Methods: The Tasmanian Clinical Genetics Service implemented a specific counseling intervention to a cohort of patients who were diagnosed with a genetic condition with familial implications and compared this with a control cohort who had not experienced the specific counseling intervention. The study involved 150 family members in 19 different kindreds across the two cohorts. The principal outcome measure was the proportion of at-risk relatives who had made contact with the clinical genetics service within 2 years of the diagnosis in the index patient. Results: The proportion of at-risk relatives who made contact with the genetics service was 61% in the intervention cohort compared with 36% in the control cohort (P ϭ 0.01).After controlling for the gender of the at-risk relatives, relatives in the intervention cohort were 2.6 times more likely to make contact with the genetics service (P ϭ 0.02). Key Words: genetic testing, genetic counseling, family communication, genetic information, at-risk relativesThe diagnosis of an inherited genetic condition in an individual results in the identification of at-risk relatives. Guidelines encourage genetic health professionals involved in the care of these individuals to discuss with them the implications for other relatives 1 with the desired outcome being that relatives are informed of their risk. Whether this family communication actually occurs has been questioned, because of a lack of relatives presenting to genetic services for care. 2 Previous research on how families communicate genetic information has demonstrated that first-degree relatives are most commonly informed in comparison with second-and third-degree relatives who are informed less frequently. [3][4][5][6][7] Communication is often undertaken by women 8 and may follow gender lines, especially for familial breast and ovarian cancer and for X-linked conditions. 9 -11 Information is more likely to be disseminated to relatives who are socially or emotionally close to one another 4 ; however, individuals often report feeling a "moral obligation" to inform relatives in general. 12 A common pattern of communication described in families is where the genetic information is passed on to a "head of the family" who then takes responsibility for informing the younger generations. 2 Genetic information can be an abstract idea to comprehend and a difficult task to communicate without formal training. This problem, in conjunction with preexisting familial issues and patterns of communication within families, can reduce the efficacy of the dissemination of genetic information. 12 Consultands who are faced with the task of communicating may be hindered because of feeling guilty about passing on what may be perceived as bad news to relatives. 2 Other barriers encountered in families include relatives who are sick or pregnant, where a relative has died, or w...

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Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients

Abstract: Uptake of predictive BRCA-mutation testing by first- and second-degree relatives is low. Emotional and behavioral factors of index patients are related to this uptake.

Cited by 60 publications

References 9 publications

Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis

Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis

Health first, genetics second: exploring families' experiences of communicating genetic information

Increased genetic counseling support improves communication of genetic information in families

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