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Journal of Genetic Counseling

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https://www.readbyqxmd.com/read/28101821/prevalence-and-characteristics-of-patients-with-suspected-inherited-renal-cell-cancer-application-of-the-acmg-nsgc-genetic-referral-guidelines-to-patient-cohorts
#1
Hong Truong, Sarah E Hegarty, Leonard G Gomella, William K Kelly, Edouard J Trabulsi, Costas D Lallas, Veda N Giri
Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001-2011, n = 105,754) and in our institutional cancer registry (2004-2013, n = 998)...
January 19, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28097456/thank-you-to-reviewers
#2
(no author information available yet)
No abstract text is available yet for this article.
January 17, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28093663/large-prospective-analysis-of-the-reasons-patients-do-not-pursue-brca-genetic-testing-following-genetic-counseling
#3
Sommer Hayden, Sarah Mange, Debra Duquette, Nancie Petrucelli, Victoria M Raymond
Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT...
January 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28091859/cancer-genetic-counselors-current-practices-and-attitudes-related-to-the-use-of-tumor-profiling
#4
LeAnne Noelle Goedde, Nathan W Stupiansky, Melissa Lah, Kimberly A Quaid, Stephanie Cohen
Tumor profiling (TP) is primarily used to identify driver mutations within a tumor for treatment purposes, but it may also identify germline mutations. Current involvement of cancer genetic counselors (GCs) in the TP process is not clear. Members of the National Society of Genetic Counselors Cancer Special Interest Group were invited to participate in a confidential, web-based survey to characterize current practices and attitudes related to the use of TP. Of 105 useable responses, 86.7% of GCs reported their institutions were using TP, although only 6...
January 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28074313/characterizing-clinical-genetic-counselors-countertransference-experiences-an-exploratory-study
#5
Rebecca Reeder, Patricia McCarthy Veach, Ian M MacFarlane, Bonnie S LeRoy
Countertransference (CT) refers to conscious and unconscious emotions, fantasies, behaviors, perceptions, and psychological defenses genetic counselors experience in response to any aspect of genetic counseling situations (Weil 2010). Some authors theorize about the importance of recognizing and managing CT, but no studies solely aim to explore genetic counselors' experiences of the phenomenon. This study examined the extent to which clinical genetic counselors' perceive themselves as inclined to experience CT, gathered examples of CT encountered in clinical situations, and assessed their CT management strategies...
January 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28039658/factors-associated-with-parental-adaptation-to-children-with-an-undiagnosed-medical-condition
#6
Tatiane Yanes, Linda Humphreys, Aideen McInerney-Leo, Barbara Biesecker
Little is known about the adaptive process and experiences of parents raising a child with an undiagnosed medical condition. The present study aims to assess how uncertainty, hope, social support, and coping efficacy contributes to adaptation among parents of children with an undiagnosed medical condition. Sixty-two parents of child affected by an undiagnosed medical condition for at least two years completed an electronically self-administered survey. Descriptive analysis suggested parents in this population had significantly lower adaptation scores when compared to other parents of children with undiagnosed medical conditions, and parents of children with a diagnosed intellectual and/or physical disability...
December 30, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28039657/self-reported-questionnaire-detects-family-history-of-cancer-in-a-pancreatic-cancer-screening-program
#7
Aimee L Lucas, Adam Tarlecki, Kellie Van Beck, Casey Lipton, Arindam RoyChoudhury, Elana Levinson, Sheila Kumar, Wendy K Chung, Harold Frucht, Jeanine M Genkinger
Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer death; approximately 5-10% of PDAC is hereditary. Self-administered health history questionnaires (HHQs) may provide a low-cost method to detail family history (FH) of malignancy. Pancreas Center patients were asked to enroll in a registry; 149 with PDAC completed a HHQ which included FH data. Patients with FH of PDAC, or concern for inherited PDAC syndrome, were separately evaluated in a Prevention Program and additionally met with a genetic counselor (GC) to assess PDAC risk (n = 61)...
December 30, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28035593/a-qualitative-study-of-factors-influencing-decision-making-after-prenatal-diagnosis-of-down-syndrome
#8
Amy R Reed, Kathryn L Berrier
Previous research has identified twenty-six factors that may affect pregnancy management decisions following prenatal diagnosis of DS; however, there is no consensus about the relative importance or effects of these factors. In order to better understand patient decision-making, we conducted expansive cognitive interviews with nine former patients who received a prenatal diagnosis of DS. Our results suggest that patients attached unique meanings to factors influencing decision-making regardless of the pregnancy outcome...
December 29, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28035592/research-participants-preferences-for-hypothetical-secondary-results-from-genomic-research
#9
Julia Wynn, Josue Martinez, Jimmy Duong, Codruta Chiuzan, Jo C Phelan, Abby Fyer, Robert L Klitzman, Paul S Appelbaum, Wendy K Chung
Secondary or incidental results can be identified in genomic research that increasingly uses whole exome/genome sequencing. Understanding research participants' preferences for secondary results and what influences these decisions is important for patient education, counseling, and consent, and for the development of policies regarding return of secondary results. Two hundred nineteen research participants enrolled in genomic studies were surveyed regarding hypothetical preferences for specific types of secondary results, and these preferences were correlated with demographic information and psychosocial data...
December 29, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28032276/motivational-interviewing-in-the-reciprocal-engagement-model-of-genetic-counseling-a-method-overview-and-case-illustration
#10
Erin Ash
Motivational Interviewing is a well-described counseling method that has been applied to a broad range of health behavior encounters. Genetic counseling is an emerging area of utilization for the method of Motivational Interviewing. The relational and technical elements of the MI method are described within the context of genetic counseling encounters. Case excerpts will be used to illustrate incorporation of MI methods into the Reciprocal Engagement Model of the genetic counseling encounter.
December 28, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28013481/the-confluence-of-psychiatric-symptoms-and-neurodegenerative-disease-impact-on-genetic-counseling
#11
Jill S Goldman, Edward D Huey, Deborah Z Thorne
Hereditary neurodegenerative diseases can present with a psychiatric prodrome that overlaps with psychiatric symptoms that are not primary to these diseases. When individuals present for predictive testing while experiencing such symptoms, clinicians including genetic counselors, must proceed with caution and evaluate each situation on a case-by-case basis. Legitimate reasons may exist for moving forward with testing. Additionally predicting the consequences of testing is unrealistic so that the clinicians must do their best to prepare patients for both positive and negative results...
December 24, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27999980/commentary-to-my-identical-twin-sequenced-our-genome-cautionary-genomics
#12
EDITORIAL
Wylie Burke
No abstract text is available yet for this article.
December 20, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27987066/pediatric-whole-exome-sequencing-an-assessment-of-parents-perceived-and-actual-understanding
#13
Leandra K Tolusso, Kathleen Collins, Xue Zhang, Jennifer R Holle, C Alexander Valencia, Melanie F Myers
Whole exome sequencing (WES) is an integral tool in the diagnosis of genetic conditions in pediatric patients, but concerns have been expressed about the complexity of the information and the possibility for secondary findings that need to be conveyed to those deciding about WES. Currently, there is no validated tool to assess parental understanding of WES. We developed and implemented a survey to assess perceived and actual understanding of WES in parents who consented to clinical WES for their child between July 2013 and May 2015...
December 16, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27966054/lifestyle-risk-factors-for-breast-cancer-in-brca1-2-mutation-carriers-around-childbearing-age
#14
A van Erkelens, L Derks, A S Sie, L Egbers, G Woldringh, J B Prins, P Manders, N Hoogerbrugge
BRCA1/2-mutation carriers are at high risk of breast cancer (BC) and ovarian cancer. Physical inactivity, overweight (body mass index ≥25, BMI), smoking, and alcohol consumption are jointly responsible for about 1 in 4 postmenopausal BC cases in the general population. Limited evidence suggests physical activity also increases BC risk in BRCA1/2-mutation carriers. Women who have children often reduce physical activity and have weight gain, which increases BC risk. We assessed aforementioned lifestyle factors in a cohort of 268 BRCA1/2-mutation carriers around childbearing age (born between 1968 and 1983, median age 33 years, range 21-44)...
December 13, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27957667/clinical-cancer-genetics-disparities-among-latinos
#15
REVIEW
Marcia Cruz-Correa, Julyann Pérez-Mayoral, Julie Dutil, Miguel Echenique, Rafael Mosquera, Keila Rivera-Román, Sharee Umpierre, Segundo Rodriguez-Quilichini, Maria Gonzalez-Pons, Myrta I Olivera, Sherly Pardo
The three major hereditary cancer syndromes in Latinos (Hereditary Breast and Ovarian Cancer, Familial Adenomatous Polyposis and Lynch Syndrome) have been shown to exhibit geographic disparities by country of origin suggesting admixture-based disparities. A solid infrastructure of clinical genetics geared towards diagnosis and prevention could aid in reducing the mortality of these cancer syndromes in Latinos. Currently, clinical cancer genetic services in Latin America are scarce. Moreover, limited studies have investigated the mutational spectrum of these cancer syndromes in Latinos resulting in gaps in personalized medicine affecting diagnosis, treatment and prevention...
December 12, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27943088/patient-perspectives-on-intimate-partner-violence-discussion-during-genetic-counseling-sessions
#16
Christina Chen, Anne Greb, Isha Kalia, Komal Bajaj, Susan Klugman
Intimate partner violence (IPV) is a major health concern in the United States (ACOG 2013). The World Health Organization (WHO) describes IPV as any physical, sexual, psychological harm by a current or former intimate partner (WHO 2016). Due to the psychosocial depth and nature of discussions within genetic counseling sessions, patients may disclose and/or discuss IPV as it relates to sexual well-being, reproductive and overall health. This study aims to assess the role for IPV screening, counseling and intervention in genetic counseling practice by investigating the incidence, experiences and attitudes about IPV among genetic counseling patients...
December 9, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27921197/counselees-perspectives-of-genomic-counseling-following-online-receipt-of-multiple-actionable-complex-disease-and-pharmacogenomic-results-a-qualitative-research-study
#17
Kevin Sweet, Shelly Hovick, Amy C Sturm, Tara Schmidlen, Erynn Gordon, Barbara Bernhardt, Lisa Wawak, Karen Wernke, Joseph McElroy, Laura Scheinfeldt, Amanda E Toland, J S Roberts, Michael Christman
Genomic applications raise multiple challenges including the optimization of genomic counseling (GC) services as part of the results delivery process. More information on patients' motivations, preferences, and informational needs are essential to guide the development of new, more efficient practice delivery models that capitalize on the existing strengths of a limited genetic counseling workforce. Semi-structured telephone interviews were conducted with a subset of counselees from the Coriell Personalized Medicine Collaborative following online receipt of multiple personalized genomic test reports...
December 5, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#18
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27891554/teaching-genetic-counseling-skills-incorporating-a-genetic-counseling-adaptation-continuum-model-to-address-psychosocial-complexity
#19
Andrea Shugar
Genetic counselors are trained health care professionals who effectively integrate both psychosocial counseling and information-giving into their practice. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them develop effective and active counseling skills. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psycho-social goals. The author reflects on the personal challenges experienced in teaching genetic counselling students to work with psychological and social complexity, and proposes a Genetic Counseling Adaptation Continuum model and methodology to guide students in the use of advanced counseling skills...
November 28, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27873131/2017-national-society%C3%A2-of-genetic-counselors-presidential-address-do-something-that-scares-you
#20
EDITORIAL
Mary E Freivogel
No abstract text is available yet for this article.
November 21, 2016: Journal of Genetic Counseling
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