Identifying Needs: a Qualitative Study of women ’s Experiences Regarding Rapid Genetic Testing for Hereditary Breast and Ovarian Cancer in the DNA BONus Study
AbstractGenetic testing for hereditary breast and ovarian cancer is increasingly being offered in newly diagnosed breast and ovarian cancer patients. This genetic information may influence treatment decisions. However, there are some concerns that genetic testing offered in an already vulnerable situation might be an extra burden to these women. The aim of this study was to explore the experiences of women who had been offered and accepted genetic testing when newly diagnosed with breast or ovarian cancer. Four semi-structured focus-group interviews were conducted with 17 women recruited from a Norwegian multicenter study....
Source: Journal of Genetic Counseling - January 24, 2017 Category: Genetics & Stem Cells Source Type: research
Men ’s Knowledge About Maternal Serum Screening for Down Syndrome and their Attitude Towards Amniocentesis
AbstractThe present study aimed to assess (i) the impact of screening consultation on male partner ’s knowledge about second trimester maternal serum screening for Down syndrome and on their attitudes toward amniocentesis, and (ii) the concomitant effect of men’s involvement in pregnancy on both knowledge and attitudes. The study included 164 men who accompanied their partners to the screenin g appointment. Knowledge Questionnaire and Partner’s Involvement in Pregnancy Scale with two dimensions, support and distance, were administered. Involvement in pregnancy was determined using two factors; support and distance. F...
Source: Journal of Genetic Counseling - January 24, 2017 Category: Genetics & Stem Cells Source Type: research
2017 National Society of Genetic Counselors Presidential Address: Do Something that Scares You
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - January 24, 2017 Category: Genetics & Stem Cells Source Type: research
Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data
In this study, the risks for the parents, fetuses and other siblings having twoSMN1 copies to be “2 + 0” carriers were estimated based on Chinese meta-analysis data and turned out to be rather striking. Our findings would help to optimize genetic counseling regarding spinal muscular atrophy. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - January 24, 2017 Category: Genetics & Stem Cells Source Type: research
Prevalence and Characteristics of Patients with Suspected Inherited Renal Cell Cancer: Application of the ACMG/NSGC Genetic Referral Guidelines to Patient Cohorts
This study supports efforts to increase awareness of referral of patients with RCC for genetic counseling particularly among urologic providers. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - January 18, 2017 Category: Genetics & Stem Cells Source Type: research
Thank You to Reviewers
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - January 16, 2017 Category: Genetics & Stem Cells Source Type: research
Large, Prospective Analysis of the Reasons Patients Do Not Pursue BRCA Genetic Testing Following Genetic Counseling
AbstractGenetic 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 onBRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons...
Source: Journal of Genetic Counseling - January 15, 2017 Category: Genetics & Stem Cells Source Type: research
Cancer Genetic Counselors ’ Current Practices and Attitudes Related to the Use of Tumor Profiling
This study provides a snapshot of current GC involvement with TP, and documents the desire by GCs for additional education on tumor profiling. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - January 12, 2017 Category: Genetics & Stem Cells Source Type: research
Characterizing Clinical Genetic Counselors ’ Countertransference Experiences: an Exploratory Study
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. An anonymous online survey, sent to NSG C members, yielded 127 usable responses. Participants completed Likert-type items rating their CT propensities; 57 of these individuals also provided examples of CT they experienced in their practice. Factor analysis of CT propensities tentatively suggested four factors: Control, Conflict Avoidance, Directiveness, and Self-Regulation, accounting for 38.5% of res...
Source: Journal of Genetic Counseling - January 9, 2017 Category: Genetics & Stem Cells Source Type: research
Factors Associated with Parental Adaptation to Children with an Undiagnosed Medical Condition
AbstractLittle 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 medic...
Source: Journal of Genetic Counseling - December 29, 2016 Category: Genetics & Stem Cells Source Type: research
Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program
AbstractPancreatic 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). FH obtained through GC and HHQ were compared using Wil...
Source: Journal of Genetic Counseling - December 29, 2016 Category: Genetics & Stem Cells Source Type: research
A Qualitative Study of Factors Influencing Decision-Making after Prenatal Diagnosis of down Syndrome
AbstractPrevious 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. Nineteen of the twenty-six factors previously studied and four novel factors (rationale for test...
Source: Journal of Genetic Counseling - December 28, 2016 Category: Genetics & Stem Cells Source Type: research
Research Participants ’ Preferences for Hypothetical Secondary Results from Genomic Research
AbstractSecondary 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 regar ding hypothetical preferences for specific types of secondary results, and these preferences were correlated with demographic information and psychosocial data. ...
Source: Journal of Genetic Counseling - December 28, 2016 Category: Genetics & Stem Cells Source Type: research
Motivational Interviewing in the Reciprocal Engagement Model of Genetic Counseling: a Method Overview and Case Illustration
AbstractMotivational 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. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - December 27, 2016 Category: Genetics & Stem Cells Source Type: research
The Confluence of Psychiatric Symptoms and Neurodegenerative Disease: Impact on Genetic Counseling
AbstractHereditary 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. A multidisciplinary team follow...
Source: Journal of Genetic Counseling - December 23, 2016 Category: Genetics & Stem Cells Source Type: research
