journal
MENU ▼
Read by QxMD icon Read
search

Journal of Genetic Counseling

journal
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
#1
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
#2
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
#3
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
#4
EDITORIAL
Mary E Freivogel
No abstract text is available yet for this article.
November 21, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27858211/factors-influencing-the-decision-making-process-and-long-term-interpersonal-outcomes-for-parents-who-undergo-preimplantation-genetic-diagnosis-for-fanconi-anemia-a-qualitative-investigation
#5
K Haude, P McCarthy Veach, B LeRoy, H Zierhut
Fanconi anemia (FA) is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. Hematopoietic stem cell transplantation is used to treat FA, and best results are attained with sibling donors who are human leukocyte antigen (HLA) identical matches. Preimplantation genetic diagnosis (PGD) offers parents of an affected child the opportunity to have an unaffected child who is an HLA match. While some research has investigated parents' experiences during the PGD process, no published studies specifically address factors influencing their decision-making process and long-term interpersonal outcomes...
November 17, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27853911/my-identical-twin-sequenced-our-genome
#6
Samantha L P Schilit, Arielle Schilit Nitenson
With rapidly declining costs, whole genome sequencing is becoming feasible for widespread use. Although cost-effectiveness is driving increased use of the technology, comprehensive recommendations on how to handle ethical dilemmas have yet to reach a consensus. In this article, Sam shares her experience of undergoing whole genome sequencing. Despite the deeply private nature of the test, the results do not solely belong to Sam; her identical twin sister, Arielle, shares virtually the same genome and received results without a formal consent process...
November 16, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27837291/the-psychosocial-impact-of-undergoing-prophylactic-total-gastrectomy-ptg-to-manage-the-risk-of-hereditary-diffuse-gastric-cancer-hdgc
#7
Nina Hallowell, Julia Lawton, Shirlene Badger, Sue Richardson, Richard H Hardwick, Carlos Caldas, Rebecca C Fitzgerald
Individuals identified as at high risk of developing Hereditary Diffuse Gastric Cancer (HDGC) are advised to undergo prophylactic surgery - have their stomach removed - in their early twenties. Research with (older) cancer patients who undergo gastrectomy for curative reasons suggests that gastric resection has a number of physical and psychosocial sequelae. Because it is difficult to extrapolate the findings of studies of older cancer patients to younger healthy patients who are considering prophylactic total gastrectomy (PTG), the aim of this qualitative interview study was to determine the psychosocial implications of undergoing prophylactic surgery to manage genetic risk...
November 11, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27832511/communication-about-congenital-adrenal-hyperplasia-perspective-of-filipino-families
#8
Peter James B Abad, Cora A Anonuevo, Sandra Daack-Hirsch, Lorna R Abad, Carmencita D Padilla, Mercy Y Laurino
Congenital adrenal hyperplasia (CAH), like other genetic conditions, is a relational disease from both the biological and psychosocial perspectives since the diagnosis gives rise to a variety of health, reproductive, and psychosocial implications. It is in these contexts that family communication of genetic information is important to study. Hence, this research aimed to explore genetic information communication in Filipino families affected with CAH. Using a qualitative descriptive design, families with a child affected with CAH were recruited through the CAH parent support group and were interviewed...
November 10, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27832510/the-impact-of-living-with-klinefelter-syndrome-a-qualitative-exploration-of-adolescents-and-adults
#9
Amy Turriff, Ellen Macnamara, Howard P Levy, Barbara Biesecker
Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the personal impact of the condition. Genetic counselors benefit from understanding the challenges adolescents and men with XXY face to effectively address their medical and psychosocial needs. The purpose of this study was to understand the impact of living with XXY as an adolescent or an adult...
November 10, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27832509/genetic-counseling-assistants-an-integral-piece-of-the-evolving-genetic-counseling-service-delivery-model
#10
Sara Pirzadeh-Miller, Linda S Robinson, Parker Read, Theodora S Ross
This study explores the potential impact of the genetic counseling assistant (GCA) position on the efficiency of the genetic counseling field, evaluates attitudes regarding expansion of the genetic counseling field to include the GCA, and presents data on GCA endeavors and GCA job tasks as reported by GCAs, certified genetic counselors (CGCs), and program directors (PDs). Data on GCA roles and attitudes toward different aspects of the GCA position were collected via surveys of CGCs who have worked with GCAs, PDs who have and have not had experience with GCAs in their programs, and GCAs...
November 10, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27830353/genetic-counseling-for-couples-seeking-noninvasive-prenatal-testing-in-japan-experiences-of-pregnant-women-and-their-partners
#11
Motoko Watanabe, Mari Matsuo, Masaki Ogawa, Toshitaka Uchiyama, Satoru Shimizu, Naoko Iwasaki, Akemi Yamauchi, Mari Urano, Hironao Numabe, Kayoko Saito
The recent advent of noninvasive prenatal testing (NIPT) has had a significant impact in the field of prenatal testing. Although reports on pregnant women who used NIPT have accumulated, little is known about the experiences of their male partners. In this study, we assessed the experiences of couples who were expecting a child and undergoing NIPT, with a focus on both the pregnant women and their partners. Questionnaires were administered to 282 participants focusing on their specific experiences at three time points: after pre-test counseling (first visit), when undergoing NIPT (second visit), and when results were received (third visit)...
November 9, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27826805/why-is-cancer-genetic-counseling-underutilized-by-women-identified-as-at-risk-for-hereditary-breast-cancer-patient-perceptions-of-barriers-following-a-referral-letter
#12
Alyssa Kne, Heather Zierhut, Shari Baldinger, Karen K Swenson, Pamela Mink, Patricia McCarthy Veach, Michaela L Tsai
Family history information comprises an important tool in identifying and referring patients at risk for hereditary breast and ovarian cancer (HBOC) to cancer genetic counseling. Despite recommendations and support provided by numerous professional organizations, cancer genetic counseling services are underutilized by atrisk patients. This study aimed to: (1) determine the rate of genetic counseling utilization following a referral letter, (2) characterize factors (barriers and supports) which influenced uptake of services, and (3) identify potential strategies for increasing utilization...
November 8, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27822877/feasibility-and-preliminary-efficacy-of-an-internet-support-group-for-parents-of-a-child-with-neurofibromatosis-type-1-a-pilot-study
#13
S Martin, M C Roderick, R Lockridge, M A Toledo-Tamula, A Baldwin, P Knight, P Wolters
This pilot study investigated the feasibility and preliminary efficacy of an Internet Support Group (ISG) for parents of children with NF1. Eligible parents were recruited by email and completed baseline questionnaires assessing social support, self-efficacy, depression, and anxiety. The ISG involved eight weekly 90-min chat sessions and a discussion forum open 24 h/day for 8 weeks. Follow-up measures were completed immediately post-intervention and 3 months later. Parents from 33 families (29 mothers, 4 fathers) completed baseline measures...
November 7, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27815662/knowledge-and-self-esteem-of-individuals-with-neurofibromatosis-type-1-nf1
#14
Kayla Rosnau, S Shahrukh Hashmi, Hope Northrup, John Slopis, Sarah Noblin, Myla Ashfaq
Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized by physical findings such as café-au-lait macules, Lisch nodules, and neurofibromas in addition to other medical complications. Learning and social problems are more prevalent among individuals affected with NF1. It has been reported that people with NF1 have lower self-esteem (SE) when compared to the general population. Additionally, a study published over 20 years ago found that overall knowledge of NF1 was lacking in individuals affected with the condition...
November 4, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27812918/theories-for-psychotherapeutic-genetic-counseling-fuzzy-trace-theory-and-cognitive-behavior-theory
#15
Barbara Biesecker, Jehannine Austin, Colleen Caleshu
Psychotherapeutic genetic counseling is an increasingly relevant practice description. In this paper we aim to demonstrate how psychotherapeutic genetic counseling can be achieved by using psychological theories to guide one's approach to working with clients. We describe two illustrative examples, fuzzy trace theory and cognitive behavior theory, and apply them to two challenging cases. The theories were partially derived from evidence of beneficial client outcomes using a psychotherapeutic approach to patient care in other settings...
November 4, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27804046/response%C3%A2-to-a-different-vantage-point-commentary-psychotherapeutic-genetic-counseling-is-it
#16
Barbara Biesecker, Jehannine Austin, Colleen Caleshu
Whether genetic counseling is a form of psychotherapy is open for debate. Early practicioners in genetic counseling described it as such, and this claim has been replicated in recent publications. This commentary is a rebuttal to the claim that genetic counseling is distinct from psychotherapty. We argue that it is a a form of psychoterapy that aims to help clients manage a health threat that affects their psychological wellbeing, paralleling the goals of psychotherapy.
November 2, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27796679/experiences-among-women-with-positive-prenatal-expanded-carrier-screening-results
#17
Erin Rothwell, Erin Johnson, Amber Mathiesen, Kylie Golden, Audrey Metcalf, Nancy C Rose, Jeffrey R Botkin
The offering and acceptance of expanded carrier screening is increasing among pregnant women including women without an increased risk based on race, ethnicity or family history. The chances of a positive screening test have been reported to be as high as 24 % when multiple conditions are screened. Yet, little is known about the way these tests are offered and how patients are affected by a positive test result. To explore this area of genetic testing, interviews (n = 17) were conducted among women who received positive expanded carrier results in the context of obstetric care...
October 29, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27796678/reproductive-decision-making-in-women-with-brca1-2-mutations
#18
Jessica L Chan, Lauren N C Johnson, Mary D Sammel, Laura DiGiovanni, Chan Voong, Susan M Domchek, Clarisa R Gracia
Expanded genetic testing of BRCA mutations has led to identification of more reproductive-aged women who test positive for the mutation which might impact attitudes and decisions about relationships, childbearing and the use of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). A cross-sectional survey was administered to 1081 self-reported BRCA carriers to investigate how knowledge of BRCA status influences these issues. The mean age at BRCA test disclosure was 44 years and 36 % reported a personal history of cancer...
October 28, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27796677/the-subjective-experience-of-patients-diagnosed-with-hereditary-hemorrhagic-telangiectasia-a-qualitative-study
#19
Laura Geerts, Carole Fantini-Hauwel, Elodie Brugallé, Odile Boute, Frédéric Frénois, Lydie Defrance, Sylvie Manouvrier-Hanu, Florence Petit, Pascal Antoine
The aim of the present study was to understand the context and psychological impact for patients diagnosed with hereditary hemorrhagic telangiectasia (HHT). Semi-structured interviews were conducted with 9 patients affected by HHT, and the transcripts were analyzed using interpretative phenomenological analysis. The results of this study allowed us to propose a new hypothesis to explain the delay in diagnosis: the trivialization of symptoms associated with HHT. Moreover, the results showed that a genetic diagnosis of HHT results in emotional shock, uncertainty about the future, and worry about one's children in parents who are confronted with the dilemma of facing the reality of the diagnosis or delaying dealing with the diagnosis until disease onset...
October 28, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27771846/reciprocal-relationships-the-genetic-counselor-patient-relationship-following-a-life-limiting-prenatal-diagnosis
#20
S R Williams, K L Berrier, K Redlinger-Grosse, J G Edwards
Utilizing the tenet, "Relationship is integral to the genetic counseling process" from the Reciprocal Engagement Model (REM) of genetic counseling practice, this study sought to explore the relationship between the genetic counselor and patient following a "life-limiting" prenatal diagnosis that resulted in a major loss (termination, stillbirth/miscarriage, or neonatal death). The specific aims of this study were to: 1) Understand and describe aspects of the genetic counselor-patient relationship in the context of the life-limiting prenatal diagnosis, and identify characteristics and actions of the 2) genetic counselor and 3) patient that influence the relationship...
October 22, 2016: Journal of Genetic Counseling
journal
journal
31015
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"