Testing Participation in <i>BRCA1/2</i>-Positive Families: Initiator Role of Index Cases

Blandy, Cécile; Chabal, Françoise; Stoppa‐Lyonnet, Dominique; Julian‐Reynier, Claire

doi:10.1089/109065703322537241

Cited by 60 publications

(95 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As well, sisters may be preferentially told if they have a closer relationship to the teller than brothers do, especially when 17 discussing a 'female' topic like breast or ovarian cancer. This gender difference in disclosures might extend to offspring, as daughters were found more likely to be told than sons in some studies (Blandy et al, 2003;Patenaude et al, 2006;MacDonald et al, 2007). A similar trend may be seen in more extended relatives (Claes et al, 2003).…”

Section: Who Are Chosen As Recipients Of Results?mentioning

confidence: 86%

“…Typically In general, first degree relatives were more likely to be told of test results than more distant relatives (Blandy et al, 2003;McGivern et al, 2004;Claes et al, 2003;MacDonald et al, 2007). Distant relatives were more likely to be informed of a conclusive test result than an inconclusive result (Claes et al, 2003;Hamilton et al, 2005;Hughes et al, 2002).…”

Section: Who Are Chosen As Recipients Of Results?mentioning

confidence: 95%

“…This was especially evident when relatives did not seem to 23 want the genetic information or did not want to pursue genetic testing (d'Agincourt-Canning, 2001;McGivern et al, 2004;Blandy et al, 2003). Members of the family sometimes started to feel isolated from each other, especially if they were not sure how best to communicate with each other, or if they felt they were in different life stages (Kenen et al, 2006;Hamilton et al, 2005;Werner-Lin, 2007;Speice et al, 2002).…”

Section: On Family Relationshipsmentioning

confidence: 99%

“…Many of these stories are based on misconceptions, misunderstandings or secrets (Kenen et al, 2003b). For example, several studies have noted that resemblance to a relative, physically or behaviorally, is sometimes used by these families to predict whether or not an individual will get cancer (Blandy et al, 2003;Werner-Lin, 2007). For instance, one research participant in the Blandy et al study (2003) stated, "In my mother's family, all small girls with curly hair develop a cancer, while the others with straight hair do not."…”

Section: Perception Of Cancer Risk In the Context Of Hboc Family Expementioning

confidence: 99%

“…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).Additionally, some family members either did not seem to understand the significance of the result (Bradbury et al, 2007;Costalas et al, 2003;Blandy et al, 2003), seemed to be in denial of its significance or were not convinced of the result's implications (Speice et al, 2002).This last reaction was most common when the result was negative, as some relatives, such as children of parents testing negative, were still convinced that their health was at stake (Hallowell et al, 2005a(Hallowell et al, , 2005b. 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).…”

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: Who Are Chosen As Recipients Of Results?mentioning

confidence: 86%

Section: Who Are Chosen As Recipients Of Results?mentioning

confidence: 95%

Section: On Family Relationshipsmentioning

confidence: 99%

Section: Perception Of Cancer Risk In the Context Of Hboc Family Expementioning

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

What happens in the long term: Uptake of cancer surveillance and prevention strategies among at‐risk relatives with pathogenic variants detected via cascade testing

Frey

Ahsan

Badiner

et al. 2022

Cancer

View full text Add to dashboard Cite

Background: Cascade genetic testing for hereditary cancer syndromes offers affected relatives the opportunity to pursue cancer screening and risk-reducing surgery and thus reduces morbidity and mortality. The purpose of this study was to measure the long-term utilization of targeted cancer prevention and quality of life among at-risk relatives offered clinician-facilitated cascade genetic testing.Methods: In a pilot study, at-risk relatives of patients with a hereditary cancer syndrome were contacted directly by the clinical team and offered telephone genetic counseling and genetic testing via an at-home, mailed saliva kit. Two-year follow-up results evaluating the use of targeted cancer prevention strategies and the quality of life for enrolled relatives were reported. Quality-of-life was measured with validated surveys, and scores were compared to the time of initial contact by the Wilcoxon signed-rank test. Results:Ninety-five at-risk relatives were enrolled in the initial pilot study, and 72 (76%) participated in the 2-year follow-up; 57 of these (79%) had completed genetic testing. Twenty-five of those 57 relatives (44%) were found to harbor an inherited pathogenic variant. Guideline-based cancer surveillance was recommended to 18 relatives; 13 (72%) completed at least one recommended screening, and six (33%) completed all recommended screenings. Risk-reducing surgery was recommended to 10 relatives; four (40%) completed a total of eight procedures. Quality-of-life surveys demonstrated low levels of anxiety, depression, distress, and uncertainty. Conclusions:The 2-year follow-up of the original pilot study revealed that clinicianfacilitated cascade testing resulted in genetically targeted cancer screening and prevention with preserved quality of life. These results, to be confirmed by larger

show abstract

Talking across generations: Family communication aboutBRCA1andBRCA2genetic cancer risk

Young

Butow

Rhodes

et al. 2019

Journal of Genetic Counseling

View full text Add to dashboard Cite

While family communication about a BRCA1 or BRCA2 (BRCA1/2) pathogenic variant can be a catalyst for the uptake of risk‐reducing measures in young adults, disseminating information within families and across generations is complex. This study aimed to explore how young adults and their families communicate about a BRCA1/2 pathogenic variant, from a family systems perspective. In‐depth family interviews and questionnaires (N = 67 individuals; 21 families) were completed at four metropolitan and regional genetic clinics in Australia. Data involved thematic analysis and interpretation based on family systems theory, including the use of standardized measures. Six key themes were identified and explored: (1) Responsibility to protect, (2) “It's a woman's problem,” (3) Family culture influences communication, (4) Adversarial growth and connection, (5) Key events can be relational turning points, and (6) Health professionals can help. Family identities were solidified through the incorporation of a pathogenic variant in family scripts, while members of the family who held differing views to their families expressed less agreeableness and openness to disseminate information. The collective family's experience and perspective toward a pathogenic variant can influence a young adult's decision‐making about genetic testing, risk‐management, and family planning. The utilization of family therapy skills in routine practice would be helpful in facilitating communication and the inclusion of standardized measures is beneficial to identify individuals needing ongoing psychological support. Understanding relationship difficulties that arise from family members holding divergent views can offer insight into future research inquiry and areas of further training and clinical support.

show abstract

Testing Participation in BRCA1/2-Positive Families: Initiator Role of Index Cases

Cited by 60 publications

References 27 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

What happens in the long term: Uptake of cancer surveillance and prevention strategies among at‐risk relatives with pathogenic variants detected via cascade testing

Talking across generations: Family communication aboutBRCA1andBRCA2genetic cancer risk

Contact Info

Product

Resources

About