Cancer Risk Information Sharing: The Experience of Individuals Receiving Genetic Counseling forBRCA1/2Mutations

Abstract

Genetic counseling and testing for familial cancer is a unique context for the communication of risk information in the family. This study utilized a theoretical framework based on the family systems perspective to understand intra-familial cancer risk communication patterns in the Ashkenazi Jewish population. Individuals (n=120) at an elevated risk for BRCA1/2 mutations were included. Change in communication patterns over time was assessed using McNemar tests. Associations with communication patterns were assessed with multivariable logistic regression. Overall, the proportion of participants encouraged by others significantly (P<0.001) increased from pre- to post-genetic counseling. A higher proportion of participants were encouraged by female family members compared to male family members. Participants who were older, had no personal history of cancer, and had a higher cancer risk perception were more likely to be encouraged by others for genetic testing. Participant’s intent to encourage family members for genetic testing from pre-counseling to post-receipt of genetic test results decreased by 16.7%. Participants who had no personal history of cancer and had informative test results for a BRCA1/2 mutation were more likely to encourage other family members for genetic testing. In addition, qualitative findings suggested that closeness among family members, concern for family, especially future generations, and cognizance about cancer risk facilitates information sharing and encouragement for genetic testing. Our findings indicate that intra-familial cancer risk communication varies with structure of family relationships, where genetic counseling played an important role in improving intra-familial cancer risk communication.

Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next‐generation sequencing

“…Founder mutations have previously been described for some population as in Ashkenazi Jewish population, 3% of individuals carried BRCA1 c.185delAG, BRCA1 c.5382insC or BRCA2 c.6174delT mutations (Wiesman et al, ). The frequency of BRCA1 and BRCA2 mutations varies among population (Chopra & Kelly, ). The knowledge of the spectrum of mutations and their geographical distribution could provide more efficient approach for screening protocol and allow more rapid, less expensive and more affordable genetic testing strategy.…”

“…These genes include ATM, TP53, CHECK2, PTEN, STK11, PALB2, BRIP, and the RAD51 genes (Merdad et al, ). In fact, the frequency of TP53 mutations among Saudi patients is one of the highest in the world (Al‐Qasem et al, ; Chopra & Kelly, ). Further researches are needed to elucidate the spectrum of mutations in those genes to confirm their association with the increase risk of developing breast cancer in the population.…”

Update on multi‐gene panel testing and communication of genetic test results

“…Furthermore, sharing of test results with distant relatives occurs less frequently, and those relatives do not have the opportunity for testing and cancer prevention 49 . Other factors that influence family sharing include recognition of at‐risk relatives, relationship type, physical or emotional closeness, perceptions of whether relatives want to know, anticipation of relatives’ reactions, and personal emotions 49‐51 . Health benefits from genetic testing can be magnified through development and implementation of strategies that encourage communication of genetic results, especially positive results, with at‐risk relatives 50 .…”

“…Other factors that influence family sharing include recognition of at‐risk relatives, relationship type, physical or emotional closeness, perceptions of whether relatives want to know, anticipation of relatives’ reactions, and personal emotions 49‐51 . Health benefits from genetic testing can be magnified through development and implementation of strategies that encourage communication of genetic results, especially positive results, with at‐risk relatives 50 . It will be important to develop and test interventions to improve the identification of HBC within families given the important public health implications and opportunity to reduce overall cancer morbidity and mortality.…”

Responsibility in dealing with genetic risk information

“…In clinical practice, it has been observed that individuals who undergo genetic testing often perceive their freedom to choose between different options to be constrained, e.g., by family or personal circumstances (Hallowell 1999). Thus, being informed about one's individual genetic condition can raise conflicting views regarding the right not to know, individuals often are put in the position of balancing autonomy and responsibility (Chopra and Kelly 2017;Lemke 2004;Hallowell et al 2003). Both the right not to know and the right to know imply an uptake of responsibility for the resulting consequences.…”