BRCA1 in the family: A case description of the psychological implications

DudokdeWit, A C; Tibben, Aad; Frets, Petra G.; Meijers-Heijboer, E.J.; Devilee, Peter; Klijn, Jan G.M.; Oosterwijk, JC; Niermeijer, Martinus F.

doi:10.1002/(sici)1096-8628(19970711)71:1<63::aid-ajmg12>3.0.co;2-t

Cited by 86 publications

(72 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Anger or resentment could be because of the timing or the way in which information was given (Hallowell et al, 2005b) or, for family members preferring not to know, because the disclosure occurred at all (DudokdeWit et al, 1997). Strong emotions could manifest from concern about one's own 22 cancer risk or a family member's risk (DudokeWit et al, 1997) or because the grief or tension from a past loss of a family member is reactivated with this news (DudokeWit et al, 1997;Speice et al, 2002).…”

Section: On Family Relationshipsmentioning

confidence: 99%

“…Disclosures sometimes involved downplaying the seriousness of the implications of the mutation, also in an effort to prevent anxiety in their relatives (Daly et al, 2001;DudokdeWit et al, 1997). Studies also show that several misconceptions about mode of inheritance, cancer risks or meaning of the test result are included in disclosures (Kenen et al, 2003b;Blandy et al, 2003;Claes et al, 2003).…”

Section: What Information Is Disclosed?mentioning

confidence: 99%

Section: On Family Relationshipsmentioning

confidence: 99%

“…As eluded to previously, one reason is that individuals can feel guilty or burdened for 'being the bearer of bad news', revealing the existence of a familial BRCA mutation to their family members (Hamilton et al, 2005;Kenen et al, 2006;McGivern et al, 2004; d'Agincourt-Canning, 2001), especially when the family already had experienced emotional hardship regarding the death of a close family member (McGivern et al, 2004). Also, individuals may feel pressure to educate their family members about complicated genetic information that they may not themselves understand well (Kenen et al, 2006;DudokdeWit et al, 1997;Costalas et al, 2003). …”

mentioning

confidence: 99%

“…Other family members interpreted a positive result not as upsetting but as an explanation for the strong family history of cancer (Bradbury et al, 2007). Likewise, some family members paid less attention to the news of the mutation than to a recent cancer diagnosis in the family (DudokdeWit et al, 1997).In addressing the teller's genetic risks, it was noted that some relatives did not know what to say to them (Kenen et al, 2006) or were overly comforting to the teller (Kenen et al, 2006).After learning of the existence of the family's mutation, some biological relatives eventually chose to be tested for the mutation as well. Blandy et al (2003) studied the uptake of testing in close biological family members.…”

mentioning

confidence: 99%

See 4 more Smart Citations

The Effect of BRCA Gene Testing on Family Relationships: A Thematic Analysis of Qualitative Interviews

Douglas¹,

Hamilton

Grubs³

2009

Journal of Genetic Counseling

View full text Add to dashboard Cite

Individuals with a personal or family history of cancer can pursue testing for mutations in BRCA1 and BRCA2, breast and ovarian cancer susceptibility genes, in order to help them make decisions about cancer risk-reducing surgeries and other management options. However, this genetic testing can also have emotional consequences, not only for the tested individual but also for his or her relatives since testing can provide risk information for them as well. Thus, this study investigated the impact of BRCA testing on family dynamics and family relationships. A qualitative research design was employed, in which a secondary analysis was conducted on interview transcripts. In the initial study, two open-ended, tape-recorded interviews were performed using grounded theory methodology with each of 12 participants approximately three years apart. All participants had tested positive for a mutation in either BRCA1 or BRCA2.Thematic analysis of interview transcripts was conducted in the current secondary analysis to characterize family relationships after BRCA testing. Three main themes were identified: 1.That the first in the family to have testing or seek genetic counseling takes on a special family role that can be difficult for them; 2. That discussions in the family, especially those associated with BRCA testing, often change after genetic testing; and 3. That individuals may feel more or less connected to certain family members after genetic testing has occurred in the family. These changes in family dynamics seem to depend on the family history of cancer, prior relationships within the family, emotional coping strategies of relatives, value placed on particular iv communication patterns, and sharing or not sharing the family's BRCA mutation. The results of this study highlight the profound changes in family life that can occur after BRCA testing.Health professionals can use the insight they gain from this study in their management of patients considering BRCA testing. This work also has public health relevance since it describes how genetic testing for susceptibility to a common disease can influence family dynamics. Such an understanding will be important as the genetic basis of common disease becomes better understood and tests for additional susceptibility genes become available. PREFACEFirst and foremost, I would like to acknowledge all of the participants in this study for sharing their experiences so openly. These individuals were truly an inspiration to me and have greatly The preliminary interviews were supported by a research grant to Dr. Rebekah J.Hamilton from Sigma Theta Tau International. INTRODUCTIONIn the 1990s, the discovery of the BRCA genes offered an explanation for the clustering of ovarian cancer and early onset breast cancer in some families. In these families, it was found that individuals who inherited a mutated copy of a BRCA gene had a lifetime risk of cancer much higher than that of the general population, while those who did not inherit a gene mutation had no elevated risk (Ford et al., ...

show abstract

Section: On Family Relationshipsmentioning

confidence: 99%

Section: What Information Is Disclosed?mentioning

confidence: 99%

Section: On Family Relationshipsmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

The Effect of BRCA Gene Testing on Family Relationships: A Thematic Analysis of Qualitative Interviews

Douglas¹,

Hamilton

Grubs³

2009

Journal of Genetic Counseling

View full text Add to dashboard Cite

show abstract

Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews

Tibben

et al. 1998

Am. J. Med. Genet.

View full text Add to dashboard Cite

In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch-type (n = 9) familial adenomatous polyposis coli (n = 45) and hereditary breast and ovarian cancer (n = 24), pretest intrusion and avoidance (Impact of Event Scale), anxiety and depression (Hospital Anxiety and Depression Scale), feelings of hopelessness (Beck Hopelessness Scale), and psychological complaints (Symptom Checklist) were assessed to determine their psychological well-being. The manner of discussing the genetic disorder, the test, and its implications during a semistructured interview (reflecting on one's emotions without getting carried away or dismissing or minimizing the subject) was judged in terms of coherence. Participants at risk for neurodegenerative disorders had higher anxiety and depression scores and more psychological complaints than did those at risk for cancer syndromes. Those reporting high intrusion/high avoidance had higher anxiety and depression scores and more psychological complaints than did those reporting low intrusion/low avoidance. However, the scoring of the interview showed that participants reporting high intrusion/high avoidance were more reflective about their emotions without getting carried away or dismissing the subject (e.g., more coherent) than those reporting low intrusion/low avoidance. This result suggests that participants with higher stress scores may be actively dealing with the emotional implications of the test, whereas those with low stress scores may (as yet) be unable to face these implications. It is important to identify the strategy of coping with threat to provide suitable counseling and necessary guidance. However, long-term follow-up is needed to learn the consequences of a denial coping strategy for those participating in a genetic testing program.

show abstract

Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997)

et al. 1999

View full text Add to dashboard Cite

Before the mutation causing Huntington disease was identified, predictive testing of 25% at-risk persons with a 50% at-risk parent who did not wish to know his/her genetic status, was only possible by exclusion testing. The exclusion test, using linked markers, ensures the parent's wish not to know because the parent's risk is not changed. When mutation analysis became available in 1993, new testing options for 25% at-risk persons emerged: viz., the exclusion-definitive test and direct mutation analysis. These new tests not only disclose the risk of the test candidate, but may also change the risk of the at-risk parent and siblings. The testing options for 25% at-risk test applicants and their consequences are discussed and the testing procedures and results of testing 64 25% at-risk persons in the period 1987 to 1997 are described. Relatives received unsought information in 56% of the test procedures before and 34% after the mutation was identified. A decision tree and guidelines for predictive testing of 25% at-risk test applicants are proposed. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:662-668, 1999.

show abstract

BRCA1 in the family: A case description of the psychological implications

Cited by 86 publications

References 33 publications

The Effect of BRCA Gene Testing on Family Relationships: A Thematic Analysis of Qualitative Interviews

The Effect of BRCA Gene Testing on Family Relationships: A Thematic Analysis of Qualitative Interviews

Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders: Comparing questionnaire results with in-depth interviews

Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997)

Contact Info

Product

Resources

About