The Role of Genetic Counseling in Familial and Sporadic Cancer: Considerations, Challenges, and Collaboration

2017 ◽  
Vol 167 (12) ◽  
pp. 884
Author(s):  
Veda N. Giri ◽  
Matthew B. Yurgelun ◽  
Mark E. Robson
Author(s):  
Huanghe Ding ◽  
Arnethea L. Sutton ◽  
Alejandra Hurtado‐de‐Mendoza ◽  
Vanessa B. Sheppard

2018 ◽  
Vol 10 (2) ◽  
pp. 337-346 ◽  
Author(s):  
Mary Kathleen Ladd ◽  
Beth N Peshkin ◽  
Leigha Senter ◽  
Shari Baldinger ◽  
Claudine Isaacs ◽  
...  

Abstract Risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO) are increasingly used to reduce breast and ovarian cancer risk following BRCA1/BRCA2 testing. However, little is known about how genetic counseling influences decisions about these surgeries. Although previous studies have examined intentions prior to counseling, few have examined RRM and RRSO intentions in the critical window between genetic counseling and test result disclosure. Previous research has indicated that intentions at this time point predict subsequent uptake of surgery, suggesting that much decision-making has taken place prior to result disclosure. This period may be a critical time to better understand the drivers of prophylactic surgery intentions. The aim of this study was to examine predictors of RRM and RRSO intentions. We hypothesized that variables from the Health Belief Model would predict intentions, and we also examined the role of affective factors. Participants were 187 women, age 21–75, who received genetic counseling for hereditary breast and ovarian cancer. We utilized multiple logistic regression to identify independent predictors of intentions. 49.2% and 61.3% of participants reported intentions for RRM and RRSO, respectively. Variables associated with RRM intentions include: newly diagnosed with breast cancer (OR = 3.63, 95% CI = 1.20–11.04), perceived breast cancer risk (OR = 1.46, 95% CI = 1.17–1.81), perceived pros (OR = 1.79, 95% CI = 1.38–2.32) and cons of RRM (OR = 0.81, 95% CI = 0.65–0.996), and decision conflict (OR = 0.80, 95% CI = 0.66–0.98). Variables associated with RRSO intentions include: proband status (OR = 0.28, 95% CI = 0.09–0.89), perceived pros (OR = 1.35, 95% CI = 1.11–1.63) and cons of RRSO (OR = 0.72, 95% CI = 0.59–0.89), and ambiguity aversion (OR = 0.79, 95% CI = 0.65–0.95). These data provide support for the role of genetic counseling in fostering informed decisions about risk management, and suggest that the role of uncertainty should be explored further.


Author(s):  
Debby W. Tsuang ◽  
Stephen V. Faraone ◽  
Ming T. Tsuang
Keyword(s):  

2019 ◽  
pp. 171-186
Author(s):  
Barbara B. Biesecker ◽  
Kathryn F. Peters ◽  
Robert Resta

The field of genetic counseling has historically valued the role of research. More recently, graduate programs have raised the standards for student thesis projects so that a greater percent are of publishable quality. The profession has acknowledged key research gaps, such as a lack of consensus on the primary client outcomes of counseling. Further, the National Society of Genetic Counselors has endorsed the importance of evidence that may be used to guide practice. Herein we present the role of genetic counselors as researchers and discuss approaches to designing research studies to answer key service delivery questions and patient-reported outcomes. To frame research in genetic counseling, health behavior and social psychology theories offer models for identifying key variables likely to predict client decisions and their outcomes. To date, studies in genetic counseling have been framed by the self-regulation model and the theory of planned behavior. A systematic review of randomized controlled trials in genetic counseling identified psychological well-being and gain in knowledge as the most prevalent patient outcomes. Evidence can be used to predict decisions to undergo genetic testing or follow up on results.


2016 ◽  
Vol 26 (1) ◽  
pp. 113-121 ◽  
Author(s):  
Alejandra Hurtado-de-Mendoza ◽  
Monica C. Jackson ◽  
Lyndsay Anderson ◽  
Vanessa B. Sheppard

PEDIATRICS ◽  
2017 ◽  
Vol 140 (Supplement 1) ◽  
pp. S46-S50 ◽  
Author(s):  
Andrea M. Atherton ◽  
Debra Day-Salvatore ◽  

Author(s):  
Ketan K. Vaghasia ◽  
Nidhi D. Shah ◽  
Parth S. Shah ◽  
Vidhi M. Bhatt ◽  
Sandip C. Shah ◽  
...  

Objective: This study was undertaken to elucidate the role of heteromorphism in causation of reproductive anomalies like infertility.Methods: In our study, cytogenetic analysis of 830 suspected referral cases of both sexes were assessed using standard karyotypic technique with Giemsa staining from their blood samples. We identified heteromorphism of D/G groups and non-acrocentric chromosomes following WHO nomenclature.Results: Our data revealed that most of our heteromorphic cases (38;4.58%) were related to p arm satellites (ps+) of the chromosomes and are related to infertility and abortion. No significant gender variation was noticed in this study.Conclusion: We hence, suggest that heteromorphism is associated with a loss of reproductive function, as heterochromatin may contain genes that regulate cellular roles in reproduction. Further, it becomes important that such cases are considered for molecular studies, genetic counseling and prenatal/pre-implantation screening.


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