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Journal of Genetic Counseling

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https://read.qxmd.com/read/31058411/developing-culturally-informed-genetic-services-for-the-somali-immigrants-in-minnesota
#1
Fook Yee Cheung, Rebekah Pratt, Abdirashid Shire, Lauren Bigalke, Zahra Ahmed, Heather Zierhut
Misinformation and distrust often prevent individuals from minority communities to seek adequate healthcare, including genetic services. Immigrants appear to be further burdened by factors that negatively impact their health outcomes and little is known about their experience with genetic services. We sought to identify attitudes and perception of genetic services in one immigrant group, the Somali community of Minnesota and to establish a culturally informed framework for caring for members. A qualitative study comprised of 11 semi-structured key informant interviews was conducted and analyzed using a thematic approach...
May 6, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/31058408/an-exploration-of-novice-genetic-counselors-transitional-challenges-commencement-is-just-the-beginning
#2
Divya Baktha Ramachandra, Patricia McCarthy Veach, Bonnie S LeRoy, Rebecca Tryon
Although transitional challenges exist in many professions, no research has explicitly investigated challenges novice genetic counselors encounter as they enter the workforce. This qualitative study explored challenges genetic counselors face when transitioning from student to practicing counselor and their strategies for managing them. Fifteen novice genetic counselors (~1-2 years post-degree experience), recruited via the National Society of Genetic Counselors, participated in semi-structured phone interviews...
May 6, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/31058406/genetic-counseling-job-market-in-the-united-states-and-canada-an-analysis-of-job-advertisements-2014-2016
#3
Kaitlyn Burns, Amy Swanson, Jennifer Hoskovec, Jennifer Leonhard, Susan Hahn, Quinn P Stein
Genetic counseling careers continue to evolve, yet there remains a lack of information about hiring trends in the genetic counseling profession. In this study, job advertisements in the United States and Canada were analyzed, using the National Society of Genetic Counselors (NSGC) Job Connections and the American Board of Genetic Counseling (ABGC) eBlasts from 2014 to 2016 to appraise job roles, qualifications, settings, specialties, and type. NSGC had 1875 advertised openings from 2014 to 2016, while ABGC had 373 advertised openings...
May 6, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/31058402/recontact-practices-of-cancer-genetic-counselors-and-an-exploration-of-professional-legal-and-ethical-duty
#4
Amy Mueller, Emily Dalton, Danielle Enserro, Catharine Wang, Maureen Flynn
The duty to recontact continues to be revisited in the field of clinical genetics and is currently relevant for cancer genetic counseling given the transition from single-gene to multi-gene panel testing. We recruited cancer genetic counselors through the National Society of Genetic Counselors list-serv to complete an online survey assessing current practices and perspectives regarding recontacting patients about diagnostic genetic tests. Forty-one percent of respondents reported that they have recontacted patients to offer updated (new) diagnostic genetic testing (40/97)...
May 6, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/31050105/understanding-variants-of-uncertain-significance-in-the-era-of-multigene-panels-through-the-eyes-of-the-patient
#5
Chloe Reuter, Nicolette Chun, Mitchel Pariani, Andrea Hanson-Kahn
Variants of uncertain significance (VUSs) are often disclosed to patients despite ambiguous association with disease risk and lack of clinical actionability. It is important to understand how patients understand a VUS result, but few studies have assessed this. Our qualitative study explored patient recall, reaction to, and interpretation of a VUS in the context of multigene panels. We conducted 11 semi-structured phone interviews with adults who had a VUS identified on multigene panel testing in a hereditary oncology clinic, with questions focusing on the VUS result, personal and family history, and motivations for and expectations of genetic testing...
May 3, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/31050075/patient-perspectives-on-the-process-and-outcomes-of-psychiatric-genetic-counseling-an-empowering-encounter
#6
Alicia Semaka, Jehannine Austin
Genetic counseling (GC) for individuals with mental illness (MI) has been shown to improve patient outcomes, such as increased empowerment and self-efficacy. However, we do not understand how the process of GC results in these improvements or what aspects of the process are critical. In this qualitative study, we explored the process and outcome of psychiatric GC from the patient's perspective. Ten Canadian adults with a diagnosed MI were interviewed prior to, and 1 month following, psychiatric GC. Interview transcripts were analyzed using Grounded Theory methodology and generated a theoretical framework that describes the process and outcomes of psychiatric GC from the patient's perspective...
May 3, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/31038280/evaluation-of-an-automated-process-for-disclosure-of-negative-noninvasive-prenatal-test-results
#7
Cassidi D Kalejta, Sonja Higgins, Hilary Kershberg, Jeff Greenberg, Monica Alvarado, Kerry Cooke, Sucheta Bhatt, Denise Bulpitt, Jamie Armour, Bassem Bejjani, Shawnia Ryan, Amanda Elms
We designed and implemented a novel automated negative non-invasive prenatal test (NIPT) result disclosure process using a proprietary, HIPAA-compliant web-based portal. High-risk pregnant patients who opted for NIPT from 04/2017 to 12/2018 were given the option to receive their negative result through the automated process. Patients were required to watch a brief educational video and answer evaluative questions before downloading their result. After completing the process, patients completed a survey regarding their opinion of the efficiency and convenience of the process and their satisfaction...
April 30, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30969465/men-s-experiences-of-recontact-about-a-potential-increased-risk-of-prostate-cancer-due-to-lynch-syndrome-just-another-straw-on-the-stack
#8
Victoria Rasmussen, Rowan Forbes Shepherd, Laura Elenor Forrest, Paul A James, Mary-Anne Young
The practice of recontacting patients to provide new health information is becoming increasingly common in clinical genetics, despite the limited research to evidence the patient experience. We explored how men with Lynch Syndrome (LS) understand and experience being recontacted about a potential increased risk of prostate cancer. Sixteen men with LS (Meanage 51 years) were recruited from an Australian screening study to undergo a semi-structured interview. A modified grounded theory approach was used to guide data collection and thematic analysis...
April 10, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30969464/sickle-cell-carriers-unmet-information-needs-beyond-knowing-trait-status
#9
Tilicia L Mayo-Gamble, David Schlundt, Jennifer Cunningham-Erves, Velma McBride Murry, Kemberlee Bonnet, Delores Quasie-Woode, Charles P Mouton
Benefits of identifying sickle cell disease (SCD) carriers include detection of at-risk couples who may be informed on reproductive choices. Studies consistently report insufficient knowledge about the genetic inheritance pattern of SCD among people with sickle cell trait (SCT). This study explored perspectives of adults with SCT on the information needed to make an informed reproductive decision and the recommendations for communicating SCT information. Five focus groups (N = 25) were conducted with African Americans with SCT ages 18-65 years old...
April 10, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30946507/current-genetic-counseling-practice-in-the-united-states-following-positive-non-invasive-prenatal-testing-for-sex-chromosome-abnormalities
#10
Lauren Fleddermann, Syed Shahrukh Hashmi, Blair Stevens, Lauren Murphy, David Rodriguez-Buritica, Lara A Friel, Claire Singletary
The purpose of this study was to describe current genetic counseling practice in the United States following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SCA). Screening for SCAs can be confounded by confined placental mosaicism, natural loss of the X chromosome from maternal cells during aging, and undiagnosed maternal SCA or copy number variant (CNV). Furthermore, with the exception of 45,X, individuals with SCAs usually have no ultrasound or postnatal findings...
April 4, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30938469/new-developmental-syndromes-understanding-the-family-experience
#11
Cara N Inglese, Alison M Elliott, Anna Lehman
Increased application of next generation sequencing has led to the discovery of a multitude of new neurodevelopmental syndromes, contributing to an increased diagnostic rate for exome sequencing from 25% originally to 40% currently. Owing to the recent recognition of these syndromes, as well as the types of large-scale studies (with limited phenotype information) often making these discoveries, these disorders may be poorly characterized clinically. As a result there is very limited information and disorder-specific support available to patients and families...
April 2, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30908831/exploring-prenatal-genetic-counselors-perceptions-of-abortion-laws-in-restrictive-states
#12
Shelby Koenig, Eve Simi, Aaron Goldenberg, Susan Magasi, Catherine Wicklund
In many states, abortion laws are becoming increasingly restrictive. Prenatal genetic counselors often see patients after the diagnosis of a fetal abnormality or genetic disorder and discuss the option of termination of pregnancy. The purpose of this study was to understand prenatal genetic counselors' perspectives on how state abortion laws impact their practice. Qualitative semi-structured interviews were conducted with 16 prenatal genetic counselors in states with restrictive abortion laws who were recruited from the National Society of Genetic Counselors' online directory...
March 25, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30907982/the-relationship-between-genetic-counseling-student-self-efficacy-and-clinical-training
#13
Elizabeth Owens-Thomas, Katie Wusik, Hua He, Geoffrey Yager, Carrie L Atzinger
Clinical experience is an important part of the training required in genetic counseling graduate programs, but little evidence exists for the number of clinical cases a student may need in order to confidently perform skills. The purpose of this study was to further describe the relationship between genetic counseling student self-efficacy and the number of core cases students log during their training. In this study, second year genetic counseling students nearing the end of their training completed a questionnaire that included the Genetic Counseling Self-efficacy Scale (GCSES) and questions related to the students' clinical experiences...
March 25, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30907979/left-ventricular-outflow-tract-obstruction-uptake-of-familial-cardiac-screening-and-parental-knowledge-from-a-single-tertiary-care-center
#14
Amy R Shikany, Ashley Parrott, Jeanne James, Peace Madueme, Kathryn Nicole Weaver, Christine Cassidy, Philip R Khoury, Erin M Miller
Left ventricular outflow tract obstruction (LVOTO) malformations exhibit higher heritability than other cardiac lesions and cardiac screening is encouraged for first-degree relatives. This study sought to determine the uptake of familial cardiac screening in families with an infant with an LVOTO and assess parental knowledge regarding genetics and heritability of LVOTO. A chart review of the period 2010-2015 identified 69 families who received genetic counseling regarding a diagnosis of LVOTO in an infant. Surveys assessing familial cardiac screening and parental knowledge were completed by a parent in 24 families (completion rate of 35%)...
March 25, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30896068/impact-of-the-physical-environment-on-patient-outcomes-of-genetic-counseling-an-exploratory-study
#15
Emily Morris, Jacob Best, Angela Inglis, Jehannine Austin
The psychology literature shows that the physical space in which counseling sessions are conducted influences outcomes of the interaction. However, this phenomenon has not been quantitatively explored in genetic counseling (GC). Through retrospective review of naturalistic data from a psychiatric GC clinic (where data on patient outcomes are routinely tracked from pre- to 1 month post-appointment using the Genetic Counseling Outcome Scale (GCOS, empowerment) and the Illness Management Self Efficacy Scale (IMSES), we tested the hypotheses that patients seen in comfortably furnished counseling (C-type) rooms would have greater increases in (a) empowerment and (b) self-efficacy after GC than patients seen in medically oriented (M-type) rooms...
March 21, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30888734/prenatal-genetic-counselors-practices-and-confidence-level-when-counseling-on-cancer-risk-identified-on-expanded-carrier-screening
#16
Jennifer Thompson, Kristen Vogel Postula, Kenny Wong, Sara Spencer
No abstract text is available yet for this article.
March 19, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30888706/genetics-professionals-attitudes-toward-prenatal-exome-sequencing
#17
Casey E Brew, Brian A Castro, Vivian Pan, Alexa Hart, Bruce Blumberg, Catherine Wicklund
Prenatal exome sequencing (ES) currently has limited use in the clinical setting, but research suggests that it has added diagnostic utility over karyotyping and array techniques for prenatal diagnosis of fetuses presenting with ultrasound abnormalities. The purpose of this study was to assess the attitudes of genetics professionals toward the clinical implementation of prenatal ES in order to guide development of professional guidelines. A survey was developed using themes identified in previous qualitative studies and was distributed to members of the American College of Medical Genetics and Genomics (ACMG), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC)...
March 19, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30861266/genetic-counseling-for-consumer-driven-whole-exome-and-whole-genome-sequencing-a-commentary-on-early-experiences
#18
Johanna L Schmidt, Roxanne Maas, Sharon Reid Altmeyer
Counseling after consumer-driven whole exome sequencing (WES) and whole genome sequencing (WGS) presents challenges for genetic counselors as availability of this testing increases. There are no standard practice guidelines and limited resources for genetic counselors in this area, but consumer demand for counseling and data interpretation exists and is likely to grow along with testing opportunities. In this paper, we comment upon our experiences as three independent, private practice genetic counselors who have provided counseling services for clients with WES/WGS reports and data...
March 12, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30843643/patients-reactions-and-follow-up-testing-decisions-related-to-tay-sachs-hexa-variants-of-uncertain-significance-results
#19
Tiffany Yip, Karen A Grinzaid, Cecelia Bellcross, Reneé H Moore, Patricia Z Page, Melanie W Hardy
JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow-up genetic counseling services. In 2014, JScreen began reporting to patients variants of uncertain significance (VUSs) in the gene that causes Tay-Sachs disease (HEXA). Genetic counseling was provided to discuss the VUS and patients were offered hexosaminidase A (HEXA) blood enzyme testing to assist with VUS reclassification. To identify patient reactions and factors influencing their follow-up testing decisions after receiving these results, we conducted a retrospective quantitative study by administering online surveys to 62 patients with HEXA VUSs...
March 7, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30843639/exploring-genetic-counselors-perceptions-of-usefulness-and-intentions-to-use-refined-risk-models-in-clinical-care-based-on-the-technology-acceptance-model-tam
#20
Christopher Heinlen, Shelly R Hovick, Guy N Brock, Brett G Klamer, Amanda Ewart Toland, Leigha Senter
Pathogenic germline mutations in the BRCA1 or BRCA2 genes are associated with an elevated lifetime risk for breast (50%-85% risk) and ovarian cancer (20%-40% risk). Genome-wide association studies have identified over 100 genetic variants associated with modified breast and/or ovarian cancer risk in BRCA1 and BRCA2 carriers. Risk models generated based on these variants have shown that these genetic modifiers strongly influence absolute risk of developing breast or ovarian cancer in BRCA mutation carriers. There is a lack of understanding, however, about the clinical applicability and utility of these risk models...
March 7, 2019: Journal of Genetic Counseling
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