A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes
AbstractAn understanding of the role of inherited cancer predisposition syndromes in pediatric tumor diagnoses continues to develop as more information is learned through the application of genomic technology. Identifying patients and their relatives at an increased risk for developing cancer is an important step in the care of this patient population. The purpose of this review is to highlight various tumor types that arise in the pediatric population and the cancer predisposition syndromes associated with those tumors. The review serves as a guide for recognizing genes and conditions to consider when a pediatric cancer r...
Source: Journal of Genetic Counseling - March 29, 2017 Category: Genetics & Stem Cells Source Type: research
Public ’s Views toward Return of Secondary Results in Genomic Sequencing: It’s (Almost) All about the Choice
AbstractThe therapeutic use of genomic sequencing creates novel and unresolved questions about cost, clinical efficacy, access, and the disclosure of sequencing results. The disclosure of the secondary results of sequencing poses a particularly challenging ethical problem. Experts disagree about which results should be shared and public input – especially important for the creation of disclosure policies – is complicated by the complex nature of genetics. Recognizing the value of deliberative democratic methods for solicitinginformed public opinion on matters like these, we recruited participants from a clinical resear...
Source: Journal of Genetic Counseling - March 29, 2017 Category: Genetics & Stem Cells Source Type: research
Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports
In conclusion, for patients receiving personalized and actionable genomic results through a web portal, genomic counseling enhanced their objective und erstanding of the genetic variant risk contribution to multiple common diseases. These results support the development of additional genomic counseling interventions to ensure a high level of patient comprehension and improve patient-centered health outcomes. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - March 27, 2017 Category: Genetics & Stem Cells Source Type: research
Genetic Counselors ’ Perception of the Effect on Practice of Laws Restricting Abortion
AbstractIn 2013, twenty-two states enacted seventy provisions restricting access to abortion. The legislation restricted access to abortions by instituting more regulations on providers and facilities, by prohibiting abortion prior to viability, by restricting funding available to patients and by requiring patients to wait a mandatory time period before having a procedure. Genetic counselors are trained to provide unbiased, comprehensive information in a non-directive style in order to allow patients to exercise their reproductive freedom. We developed a survey of 37 questions for genetic counselors to gauge the potential ...
Source: Journal of Genetic Counseling - March 27, 2017 Category: Genetics & Stem Cells Source Type: research
A Psychological Perspective on Factors Predicting Prophylactic Salpingo-Oophorectomy in a Sample of Italian Women from the General Population. Results from a Hypothetical Study in the Context of BRCA Mutations
AbstractThe aim of this study was to assess attitudes toward ovarian cancer risk management options for BRCA mutation carriers in healthy Italian women, and to identify predictors of the preference for risk reducing salpingo-oophorectomy (RRSO) over surveillance. One hundred eighty-one women aged 30 –45 completed a questionnaire about preferences, knowledge, risk perception, and socio-demographic information. Participants were randomly presented with a pamphlet about BRCA1 or BRCA2 mutation-specific testing, consequences of testing and preventive options for carriers, and they were stratified by having children or not an...
Source: Journal of Genetic Counseling - March 23, 2017 Category: Genetics & Stem Cells Source Type: research
A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners
AbstractMuenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of having a child with Muenke syndrome is an important aspect of genetic counselling. Prenatal genetic testing for Muenke syndrome is accurate; however the value of testing is uncertain with a variable phenotype. The purpose of this study was to explore attitudes towards prenatal testing in couples where one partner had tested positive for the Mu...
Source: Journal of Genetic Counseling - March 22, 2017 Category: Genetics & Stem Cells Source Type: research
Special Issue Introduction: Dealing with Psychological and Social Complexity in Genetic Counseling
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - March 20, 2017 Category: Genetics & Stem Cells Source Type: research
Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing
AbstractGenomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients ’ perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients’ decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who dec lined participation (N = 240) to evaluate their reasons for doing so. Two thirds of women declined participation. We identified major themes describing reasons these indi...
Source: Journal of Genetic Counseling - March 16, 2017 Category: Genetics & Stem Cells Source Type: research
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome
AbstractWhether children should be offered genetic testing for cancer risk is much debated but young voices are rarely heard in these conversations. The current study explored perspectives of genetic testing held by adolescents and emerging adults in families with Li Fraumeni syndrome (LFS). Twelve 12- to 25-year-olds in families with LFS completed qualitative interviews for this study. All believed that testing should be offered for children but many qualified this statement saying parental approval would be needed and testing should be optional. Genetic testing was seen as way to learn of risk status, allow for disease p...
Source: Journal of Genetic Counseling - March 15, 2017 Category: Genetics & Stem Cells Source Type: research
Seekers, Finders, Settlers, and Stumblers: Identifying the Career Paths of Males in the Genetic Counseling Profession
AbstractGenetic counseling is a female-dominated profession, with 96% of counselors self-identifying as female. Research suggests gender diversification benefits healthcare professionals and the populations they serve. Therefore, this study explored how men choose a genetic counseling career, associations between career satisfaction and their career entry dynamics and experience levels, and differences due to experience level in how they decide on this profession. Twenty-five novice, experienced, or seasoned male counselors and 8 male genetic counseling students participated in semi-structured phone interviews. Interpretiv...
Source: Journal of Genetic Counseling - March 13, 2017 Category: Genetics & Stem Cells Source Type: research
Information Mismatch: Cancer Risk Counseling with Diverse Underserved Patients
AbstractAs genetics and genomics become part of mainstream Medicine, these advances have the potential to reduce or exacerbate health disparities. Gaps in effective communication (where all parties share the same meaning) are widely recognized as a major contributor to health disparities. The purpose of this study was to examine GC-patient communication in real time, to assess its effectiveness from the patient perspective, and then to pilot intervention strategies to improve the communication. We observed 64 English-, 35 Spanish- and 25 Chinese-speaking (n = 124) public hospital patients and 10 GCs in 170 GC appointment...
Source: Journal of Genetic Counseling - March 12, 2017 Category: Genetics & Stem Cells Source Type: research
At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease
AbstractIn the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy. This paper provides basic management and genetic evaluation principles for affected women, ...
Source: Journal of Genetic Counseling - March 9, 2017 Category: Genetics & Stem Cells Source Type: research
Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer
This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer . The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular distress, anxiety and depression. Participants completed the followi ng tools during a psychological interview: a socio-demographic form, Cancer Risk Perception (CRP) and Genetic Risk Perception (GRP), Hospital Anxiety and Depression Scale (HADS) and Distress Thermometer (DT). The data seem to...
Source: Journal of Genetic Counseling - March 9, 2017 Category: Genetics & Stem Cells Source Type: research
Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study
AbstractInternational advocacy of patient-centred healthcare delivery has led to emphasis on the (re)design and evaluation of healthcare processes and outcomes from a patient perspective. Patient-reported outcome measures (PROMs) have significant potential to inform such attempts. However there is limited understanding of the processes by which this can be achieved. This exploratory study followed attempts to utilise two different PROMs measures to support service quality improvement in clinical genetics. PROMs used were the Genetic Counseling Outcome Scale (GCOS-24), a well-validated clinical genetics-specific PROM and Eu...
Source: Journal of Genetic Counseling - March 8, 2017 Category: Genetics & Stem Cells Source Type: research
Speical Issue Introduction: Dealing with Psychological and Social Complexity in Genetic Counseling
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - March 6, 2017 Category: Genetics & Stem Cells Source Type: research
