Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers

Dean, Marleah; Tezak, Ann; Johnson, Sabrina; Pierce, Joy K.; Weidner, Anne; Clouse, Kate; Pal, Tuya; Cragun, Deborah

doi:10.1016/j.pec.2020.12.019

Cited by 29 publications

(22 citation statements)

References 47 publications

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“…The complex nature of genetic information can make it difficult to understand and remember it correctly, resulting in limited knowledge of mutation carriers 7 , 30 . Lerman et al found that only 55% of 11 items concerning the gene alteration were answered correctly 31 .…”

Section: Discussionmentioning

confidence: 99%

“…Taken together, mutation carriers express the need for comprehensive information and supportive consultations with health care professionals 7 . The use of a screening method (for instance, the NCCN Distress Thermometer ) during genetic counseling would enable to identify vulnerable individuals and to offer them psychosocial support 34 .…”

Section: Discussionmentioning

confidence: 99%

“…Culture-based factors can also influence the communication process 10 . In conclusion, the disclosure of familial cancer risk to relatives is influenced multifactorially 7 , 10 . However, the subsequent uptake of predictive BRCA1 or BRCA2 testing by relatives at risk is also dependent on sociodemographic, economic, and psychosocial variables on the family members’ side 14 .…”

Section: Introductionmentioning

confidence: 89%

“…In order to advise family members, a mutation carrier has to understand the test result and its clinical consequences. Thus, knowledge about the gene alteration significantly influences the process of disclosing a pathogenic test result to relatives 7 . In particular, the complex nature of genetics and associated uncertainties about the families’ risk may act as a barrier in the communication process 7 , 8 , whereas valid knowledge about the gene alteration may enhance family communication 9 .…”

Section: Introductionmentioning

confidence: 99%

“…Thus, knowledge about the gene alteration significantly influences the process of disclosing a pathogenic test result to relatives 7 . In particular, the complex nature of genetics and associated uncertainties about the families’ risk may act as a barrier in the communication process 7 , 8 , whereas valid knowledge about the gene alteration may enhance family communication 9 . Moreover, family-related factors have impact on communication 10 , for instance the presence of a family history of cancer, the quality of intrafamilial relationships 11 , 12 as well as the communication style within a family.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Blomen

Pott

Volk

et al. 2021

Sci Rep

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The detection of a pathogenic variant in the BRCA1 or BRCA2 gene has medical and psychological consequences for both, affected mutation carriers and their relatives. A two-phase study with explanatory sequential mixed methods design examined the psychological impact of genetic testing and associated family communication processes. Analyzing a survey data of 79 carriers of a BRCA1 or BRCA2 mutation, the majority had general psychological distress independent of cancer diagnosis in the patients’ history. The point prevalence of depression was 16.9%. Contrary to their subjective perception, the respondents’ knowledge about those mutations was moderate. Despite the high rate of information transfer to relatives at risk (100%), their reported uptake of genetic testing was low (45.6%). Communication about the mutation detection was more frequent with female than with male relatives. In-depth focus group interviews revealed significant barriers to accessing genetic counseling including anxiety, uncertainty about the benefits of testing and about the own cancer risk, particularly among males. This study suggests that an adequate knowledge of the genetic background and psychological support is required to reduce emotional distress, to support familial communication and to facilitate genetic testing.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Blomen

Pott

Volk

et al. 2021

Sci Rep

View full text Add to dashboard Cite

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Genetic Risk Disclosure and Family Sharing

Boumis¹,

Dean²

2022

The International Encyclopedia of Health Communication

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Detecting inherited predispositions to certain health risks such as cancer can lead to better prevention strategies and management decisions, ultimately reducing morbidity and health risk. Effectively distributing genetic risk information is contingent upon disclosure of risk within families. Family sharing can have a significant impact on family members' decision making concerning their own risk. Past research has found many reasons why individuals are motivated to share their genetic risk test results with their family members. Yet, there are inherent challenges present in these conversations. Understanding both the motivations and barriers to genetic risk disclosure is an important contribution to the efforts to increase cascade testing and the use of genetic counseling.

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A qualitative study of unaffected ATM and CHEK2 carriers: How participants make meaning of ‘moderate risk’ genetic results in a population breast cancer screening trial

James

Riddle

Caruncho

et al. 2022

Journal of Genetic Counseling

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Breast cancer risk is associated with pathogenic variants in several genes with wide-ranging penetrance (Vysotskaia et al., 2020).With the advent of multigene panel testing for cancer susceptibility genes and sequencing, more people are learning that they have pathogenic variants in 'moderate' penetrance genes such as ATM and CHEK2 (Idos et al., 2019). These variants confer a 33% and 28%-37% lifetime risk of breast cancer, respectively, compared to 60% and 55% for the highly penetrant BRCA1 and BRCA2 gene variants (Reyes et al., 2021) and 13% average lifetime risk for women in the United States. While BRCA1 and BRCA2 have well-established clinical guidelines for risk reduction and surveillance, guidelines for ATM and CHEK2 are not as well established, and less is known about how risk is modulated by other risk factors (

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Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers

Cited by 29 publications

References 47 publications

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Genetic Risk Disclosure and Family Sharing

A qualitative study of unaffected ATM and CHEK2 carriers: How participants make meaning of ‘moderate risk’ genetic results in a population breast cancer screening trial

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