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Journal of Genetic Counseling

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https://www.readbyqxmd.com/read/28191608/experiences-of-pre-implantation-genetic-diagnosis-pgd-in-sweden-a-three-year-follow-up-of-men-and-women
#1
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
Men and women with a hereditary genetic disease are faced with different options when they wish to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focused on men and women's psychological experiences of PGD three years after applying for PGD. Nineteen women and seventeen men (i.e. seventeen couples and two women) participated. The interviews were analysed by thematic method...
February 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28181058/analysis-of-reimbursement-of-genetic-counseling-services-at-a-single-institution-in-a-state-requiring-licensure
#2
Jennifer R Leonhard, Paul J Munson, Jason D Flanagan, Kristen L De Berg, Paul A Thompson, Lori W Dean, Quinn P Stein
Reimbursement for genetic counseling services was examined at a single institution. Patient encounters utilizing the 96040 CPT® code from 7/31/2009 through 7/31/2013 were reviewed. Exclusion criteria included billing records of patients seen by a physician the same day, self-pay, Medicaid, and Medicare patients. Of the 8,630 encounters with a genetic counselor, 582 encounters were eligible for review. Descriptive statistics (i.e., percentage of encounters receiving some level of reimbursement, average reimbursement rate, number of third party payors providing any level of reimbursement, and number of ICD-9 codes receiving any level of reimbursement) depicted reimbursement of the 96040 CPT® code for the encounters analyzed...
February 8, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28176155/genetic-counseling-for-alcohol-addiction-assessing-perceptions-and-potential-utility-in-individuals-with-lived-experience-and-their-family-members
#3
Fayth M Kalb, Victoria Vincent, Teresa Herzog, Jehannine Austin
Though addictions to substances including alcohol are highly heritable, there have been no studies regarding the possible applicability of genetic counseling to this set of conditions. Adults (≥18 years old) with a personal and/or family history of alcohol addiction were recruited to participate in an online survey-based study comprising 43 questions about beliefs/concern about recurrence risk and etiology of alcohol addiction and its impact on childbearing decisions, and perceptions of potential utility of genetic counseling for alcohol addiction...
February 7, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28168332/a-rapid-systematic-review-of-outcomes-studies-in-genetic-counseling
#4
REVIEW
Lisa Madlensky, Angela M Trepanier, Deborah Cragun, Barbara Lerner, Kristen M Shannon, Heather Zierhut
As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs...
February 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28161759/-they-just-want-to-know-genetic-health-professionals-beliefs-about-why-parents-want-to-know-their-child-s-carrier-status
#5
Danya F Vears, Clare Delany, John Massie, Lynn Gillam
In the context of a child being diagnosed with a genetic condition, reports from both parents and health professionals suggest many genetic health professionals are reluctant to provide carrier testing for unaffected siblings, despite the lack of evidence of harm. We propose that genetic health professionals' understandings of why parents want to have their children tested may contribute to their reluctance to test. We draw on interviews with 17 genetic health professionals, reporting their beliefs about parents' motivations for testing and their intentions to communicate results to their children...
February 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28138923/-it-was-an-emotional-baby-previvors-family-planning-decision-making-styles-about-hereditary-breast-and-ovarian-cancer-risk
#6
Marleah Dean, Emily A Rauscher
Women who test positive for a BRCA genetic mutation are at an increased risk for developing hereditary breast and ovarian cancer and have a 50% chance of passing on their genetic mutation to their children. The purpose of this study was to investigate how women who test positive for a BRCA mutation but have not been diagnosed with cancer make decisions regarding family planning. Analysis of interviews with 20 women revealed they engage in logical and emotional decision-making styles. Although women want to be logical to reduce their hereditary cancer risk, emotions often complicate their decision-making...
January 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28127677/lynch-syndrome-limbo-patient-understanding-of-variants-of-uncertain-significance
#7
Ilana Solomon, Elizabeth Harrington, Gillian Hooker, Lori Erby, Jennifer Axilbund, Heather Hampel, Kara Semotiuk, Amie Blanco, William M P Klein, Francis Giardiello, Lori Leonard
Providers and patients encounter challenges related to the management of Variants of Unknown Significance (VUS). A VUS introduces new counseling dilemmas for the understanding and psychosocial impact of uncertain genetic test results. This descriptive study uses Mishel's theory of uncertainty in illness to explore the experience of individuals who have received a VUS as part of the genetic testing process. Semi-structured interviews were conducted with 27 adult individuals who received a VUS for Lynch syndrome mismatch repair genes between 2002 and 2013...
January 26, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28124750/commentary-my-identical-twin-sequenced-our-genome
#8
EDITORIAL
Sabrina A Suckiel, Randi E Zinberg
No abstract text is available yet for this article.
January 26, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28124179/breast-cancer-risk-assessment-at-the-time-of-screening-mammography-perceptions-and-clinical-management-outcomes-for-women-at-high-risk
#9
Nichole A Morman, Lindsey Byrne, Christy Collins, Kelly Reynolds, Jeffrey G Bell
The purpose of this study was to evaluate the utility of a breast cancer risk assessment (BCRA) at the time of screening mammogram. Women whose BCRA indicated a high risk for cancer received a letter with instructions for breast health care and genetic counseling if appropriate. After 6 months this group received surveys to evaluate their risk perception and their recall of, and compliance with, recommendations. We also explored the impact of other variables such as a recommendation for genetic counseling and physician communication with the women...
January 26, 2017: Journal of Genetic Counseling
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
#10
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/28093663/large-prospective-analysis-of-the-reasons-patients-do-not-pursue-brca-genetic-testing-following-genetic-counseling
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
EDITORIAL
Wylie Burke
No abstract text is available yet for this article.
December 20, 2016: Journal of Genetic Counseling
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