Perspectives of Women Considering Bilateral Prophylactic Mastectomy and their Peers towards a Telephone-Based Peer Support Intervention
AbstractProphylactic mastectomy is an effective strategy to reduce the risk of breast cancer for women carrying aBRCA1/2 germline mutation. This decision is complex and may raise various concerns. Women considering this surgery have reported their desire to discuss the implications of this procedure with women who have undergone prophylactic mastectomy. We conducted a qualitative study to describe the topics covered during a telephone-based peer support intervention between women considering prophylactic mastectomy (recipients) and women who had undergone this surgery (peers), and to explore their perspectives regarding th...
Source: Journal of Genetic Counseling - February 1, 2018 Category: Genetics & Stem Cells Source Type: research
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results
We present a qualitative study using semi-structured interviews of participants enrolled in a genome sequencing/exome sequencing (GS/ES) study at the same institution where they receive clinical care. Interviews were coded for motivations to participate and expectations of this research. The interviews revealed common motivations for participation, including altruism and hope for benefit for themselves, family members, and/or others with their condition. Additionally, themes emerged related to unintentional influence based on trust of the clinical provider that recruited them to the study. Participant trust in the enrollin...
Source: Journal of Genetic Counseling - February 1, 2018 Category: Genetics & Stem Cells Source Type: research
Patients ’ Knowledge of Prenatal Screening for Trisomy 21
This study's objective was to assess the knowledge of prenatal screening for Trisomy 21 in pregnant women in one institution in Canada. A cross-sectional survey measuring demographics, knowledge of screening, and health literacy, was administered to pregnant women. Of the 135 women who completed the survey, 74% had adequate knowledge of Trisomy 21 and associated screening procedures. Twenty-eight point one percent of women did not receive any counseling. Overall, 29.5% of women did not know that the screening test was optional and 10.2% of women underwent screening prior to having been counseled. Multigravidity (p< 0.05...
Source: Journal of Genetic Counseling - February 1, 2018 Category: Genetics & Stem Cells Source Type: research
Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy
This study provides a greater understanding of factors associated with uptake of genetic testing and cardiac evaluation in children at risk of an inherited arrhythmia or cardiomyopathy. It also identifies a need to educate families about the importance of cardiac evaluation even in the absence of genetic testing. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - February 1, 2018 Category: Genetics & Stem Cells Source Type: research
Talking with Children About Adult-Onset Hereditary Cancer Risk: A Developmental Approach for Parents
AbstractFamilies often express difficulty to their providers and request guidance regarding the task of communicating with children about potential adult-onset inherited cancer risks. This disclosure is often complicated by the parent ’s ongoing adjustment to their mutation status, guilt at potential transmission of the mutation to the child, concern over inciting distress in children, and the varied capacities of children in the home to understand genetic information. Providers often do not have adequate resources to support o r facilitate disclosure of genetic test results to children. Optimally, communication about in...
Source: Journal of Genetic Counseling - January 30, 2018 Category: Genetics & Stem Cells Source Type: research
Children ’s at Home: Pilot Study Assessing Dedicated Social Media for Parents of Adolescents with Neurofibromatosis Type 1
AbstractThe aim of this pilot study was to evaluate Children ’s at Home (C@H), a dedicated social media website for parents of adolescents with neurofibromatosis type 1 (NF1). The interventional study included two phases: (1) creating video intervention/prevention assessment (VIA) visual narratives about having an adolescent with NF1 and (2) interacting on C@H, a secure, medically moderated social media website. C@H was evaluated qualitatively at three time points. At enrollment (T0,N = 17), participants reported needing C@H to break their isolation, connect with other families, and receive accurate information, advi...
Source: Journal of Genetic Counseling - January 30, 2018 Category: Genetics & Stem Cells Source Type: research
How Might the Genetics Profession Better Utilize Social Media
AbstractSocial media is a common method of communication in people ’s personal lives and professional settings. Gallagher et al. (2016) recommended, “it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals.” Full members of the National Society of Genetic Counselors (NSGC) in the US A and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicate...
Source: Journal of Genetic Counseling - January 26, 2018 Category: Genetics & Stem Cells Source Type: research
Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists
AbstractFor couples at high risk of transmitting a cancer predisposition to offspring, reproductive decision-making can be challenging. As the choice between available reproductive options is preference-sensitive, the use of a decision aid can support these couples in their decisional process. The present study aims to investigate preferences and needs of involved stakeholders regarding the development and implementation of a patient decision aid. Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk ...
Source: Journal of Genetic Counseling - January 25, 2018 Category: Genetics & Stem Cells Source Type: research
Utilization of the Tablet Application Proband in Pedigree Construction and Assessment
AbstractMany medical institutions have converted to a digital model for record keeping due to the Health Information Technology for Economic and Clinical Health Act. This Act provides incentives to health care systems to accelerate and encourage the adoption of electronic health record (EHR) systems. The pedigree as a tool in medicine provides an efficient method to assess and represent an individual ’s health and family health risks that may otherwise not be apparent in the medical record in a clearly identifiable way (Schuette, J. L.,& Bennett 2009). Many clinicians continue to construct pedigrees using pen and pap...
Source: Journal of Genetic Counseling - January 25, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic Counseling in the Era of Genomics: What ’s all the Fuss about?
AbstractAs genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare professionals navigate the complexities of using genomic technologies to facilitate diagnosis and inform patient management. Counseling issues arising when counseling for diagnostic genomic sequencing were identified by four genetic counselors with 10 years of collective experience providing genetic counseling in this setting. These issues were discussed and refined...
Source: Journal of Genetic Counseling - January 24, 2018 Category: Genetics & Stem Cells Source Type: research
Investigating Pregnancy Outcomes After Abnormal Cell-Free DNA Test Results
AbstractCell-free DNA (cfDNA) testing has increased sensitivity and specificity compared to other prenatal screening methods, but invasive diagnostic testing (IDT) is recommended for confirmation. We performed a retrospective chart review of 39 women with abnormal cfDNA results between March 2012 and September 2015 at an urban academic hospital to evaluate patient choice and pregnancy outcomes. We analyzed data using descriptive statistics, Fisher ’s exact tests, and Wilcoxon rank-sum tests. Median maternal age was 36.0 years [interquartile range (IQR) 31, 39]; 64.1% of women (25/39) were advanced maternal age and 69.2%...
Source: Journal of Genetic Counseling - January 24, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic Counselors ’ Experiences and Interest in Telegenetics and Remote Counseling
AbstractIn 2009, the National Society of Genetic Counselors Service (NSGC) Delivery Model Task Force defined genetic counseling service delivery models including telephone (genetic counseling provided remotely by telephone) and telegenetics (counseling provided remotely using videoconferencing). Little is known about the experience of genetic counselors practicing telemedicine in the USA. We sought to evaluate perceived satisfaction, advantages, disadvantages, and barriers to the practice and implementation of telegenetics by practicing genetic counselors. A 21-question online survey was distributed via the NSGC ’s membe...
Source: Journal of Genetic Counseling - January 23, 2018 Category: Genetics & Stem Cells Source Type: research
Genesurance Counseling: Patient Perspectives
This study aimed to explore patient expectations of GCs in these discussions, as well as examine factors that may impact expectations. A 38-item survey was administered prior to patients receiving prenatal or cancer genetic counseling at 11 clinic sites across UTHealth, Baylor College of Medicine, and Sanford Health, with 360 responses analyzed. Key variables were analyzed using descriptive statistics, chi-square anal ysis, and multivariate logistic regression to assess associations between factors and control for potential confounders. Over 75% of patients expected GCs to discuss genesurance topics during a genetic counse...
Source: Journal of Genetic Counseling - January 19, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic Test Reporting and Counseling for Melanoma Risk in Minors May Improve Sun Protection Without Inducing Distress
This study investigated whether genetic counseling and test reporting for theCDKN2A/p16 mutation, which confers highly elevated melanoma risk, improved sun protection without inducing distress. Eighteen minors (Mage = 12.4,SD = 1.9) from melanoma-prone families completed measures of protective behavior and distress at baseline, 1 week (distress only), 1 month, and 1 year following test disclosure. Participants and their mothers were individually interviewed on the psychological and behavioral impact of genetic te sting 1 month and 1 year post-disclosure. Carriers (n = 9) and noncarriers (n = 9) reporte...
Source: Journal of Genetic Counseling - January 19, 2018 Category: Genetics & Stem Cells Source Type: research
Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling
AbstractPatients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG). An online 54-item survey was used to gain information on (1) how and to what extent genetic counseling students and genetic counselors connect directly with patients via social media sites, and (2) gather information on providers using...
Source: Journal of Genetic Counseling - January 15, 2018 Category: Genetics & Stem Cells Source Type: research
