What improves the likelihood of people receiving genetic test results communicating to their families about genetic risk?

Bowen, Deborah J.; Makhnoon, Sukh; Shirts, Brian H.; Fullerton, Stephanie M.; Larson, Eric B.; Ralston, James D.; Leppig, Kathleen A.; Crosslin, David R.; Veenstra, David L.; Jarvik, Gail P.

doi:10.1016/j.pec.2021.01.001

Cited by 11 publications

(9 citation statements)

References 18 publications

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“…In Switzerland, and in many countries worldwide, privacy laws mandate that the proband, i.e., the individual identified with the pathogenic variant, has the responsibility to share the genetic test results with relatives, explain implications, and advocate the use of genetic services [ 1 , 2 ]. However, uptake of cascade genetic screening for HBOC remains lower than 50%, suggesting that proband-mediated communication of cancer risk has significant limitations in both ensuring contact with the appropriate individuals and the transmission of accurate information [ 3 , 4 , 5 ]. Extensive literature indicates that communication of genetic risk to relatives is a difficult and complex process, compounded by a wide variety of interconnected factors that can act as facilitators or barriers.…”

Section: Introductionmentioning

confidence: 99%

The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer

Pedrazzani

Aceti

Schweighoffer

et al. 2022

JPM

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Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the probands’ perspectives. Using a grounded-theory approach, we analyzed narrative data collected with individual interviews and focus groups from a sample of 48 women identified as carriers of HBOC-associated pathogenic variants from three linguistic regions of Switzerland. The findings describe the “communication chain”, confirming the difficulties of proband-mediated communication. Provider–proband communication is impacted by a three-level complexity in the way information about family communication is approached by providers, received by probands, and followed-up by the healthcare system. Probands’ decisions regarding disclosure of genetic risk are governed by dynamic and often contradictory logics of action, interconnected with individual and family characteristics, eventually compelling probands to engage in an arbitrating process. The findings highlight the relevance of probands’ involvement in the communication of genetic risk to relatives, suggesting the need to support them in navigating the complexity of family communication rather than replacing them in this process. Concrete actions at the clinical and health system levels are needed to improve proband-mediated communication.

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Section: Introductionmentioning

confidence: 99%

The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer

Pedrazzani

Aceti

Schweighoffer

et al. 2022

JPM

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“…Information on how risk translates to relatives may be difficult to convey in brief results disclosure sessions, an important implication for population screening. However, the expansion of population genetic testing, including models like WISDOM, may alleviate the burden on individuals to convey complex risk information to their family as more individuals are tested regardless of risk or family history (Bowen et al, 2021; Dean et al, 2021; Lieberman et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

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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“…This issue is also relevant when asking patients to give their consent to participate in clinical trials [52], particularly in an era when patient empowerment is increasingly used in cancer care [53]. Consequently, families can be guided in understanding family cancer risk to improve screening rates, self-care, and prevention activities [54]. Clinicians should also discuss with patients the meaning of genetic test results and the impact on their current and future health [55].…”

Section: Love and Belonging Esteem And Self-actualization Needsmentioning

confidence: 99%

Building a Personalized Medicine Infrastructure for Gynecological Oncology Patients in a High-Volume Hospital

Bizzarri

Nero

Sillano

et al. 2021

JPM

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Gynecological cancers require complex intervention since patients have specific needs to be addressed. Centralization to high-volume centers improves the oncological outcomes of patients with gynecological cancers. Research in gynecological oncology is increasing thanks to modern technologies, from the comprehensive molecular characterization of tumors and individual pathophenotypes. Ongoing studies are focusing on personalizing therapies by integrating information across genomics, proteomics, and metabolomics with the genetic makeup and immune system of the patient. Hence, several challenges must be faced to provide holistic benefit to the patient. Personalized approaches should also recognize the unmet needs of each patient to successfully deliver the promise of personalized care, in a multidisciplinary effort. This may provide the greatest opportunity to improve patients’ outcomes. Starting from a narrative review on gynecological oncology patients’ needs, this article focuses on the experience of building a research and care infrastructure for personalized patient management.

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What improves the likelihood of people receiving genetic test results communicating to their families about genetic risk?

Cited by 11 publications

References 18 publications

The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer

The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer

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

Building a Personalized Medicine Infrastructure for Gynecological Oncology Patients in a High-Volume Hospital

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