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Journal of Genetic Counseling

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https://www.readbyqxmd.com/read/29770910/creation-and-implementation-of-an-environmental-scan-to-assess-cancer-genetics-services-at-three-oncology-care-settings
#1
Erica M Bednar, Michael T Walsh, Ellen Baker, Kimberly I Muse, Holly D Oakley, Rebekah C Krukenberg, Cara S Dresbold, Sandra B Jenkinson, Amanda L Eppolito, Kelly B Teed, Molly H Klein, Nichole A Morman, Elizabeth C Bowdish, Pauline Russ, Emaline E Wise, Julia N Cooper, Michael W Method, John W Henson, Andrew V Grainger, Banu K Arun, Karen H Lu
An environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date, the ES has not been used nor evaluated in the clinical cancer genetics setting. We created and implemented an ES to inform the design of a quality improvement (QI) project to increase the rates of adherence to national guidelines for cancer genetic counseling and genetic testing at three unique oncology care settings (OCS). The ES collected qualitative and quantitative data from reviews of internal processes, past QI efforts, the literature, and each OCS...
May 16, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29752676/patients-views-of-treatment-focused-genetic-testing-tfgt-some-lessons-for-the-mainstreaming-of-brca1-and-brca2-testing
#2
Sarah Wright, Mary Porteous, Diane Stirling, Julia Lawton, Oliver Young, Charlie Gourley, Nina Hallowell
This paper explores patients' views and experiences of undergoing treatment-focused BRCA1 and BRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients' views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways...
May 11, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29696416/message-from-the-editor-in-chief
#3
(no author information available yet)
No abstract text is available yet for this article.
April 25, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29687313/genetic-counselors-experience-with-and-opinions-on-the-management-of-newborn-screening-incidental-carrier-findings
#4
Kristen Leppert, Katharine Bisordi, Jessica Nieto, Kristin Maloney, Yue Guan, Shannan Dixon, Alena Egense
Newborn screening (NBS) is a public health program whose aim is to identify infants who will be clinically affected with a serious metabolic, genetic, or endocrine disorder; however, the technology utilized by many NBS programs also detects infants who are heterozygous carriers for autosomal recessive conditions. Discussion surrounding disclosure of these incidental carrier findings remains controversial. The purpose of this study was to assess genetic counselors' attitudes about disclosure of carrier status results generated by NBS and to gather data on their experiences with incidental carrier findings...
April 23, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29629496/commentary-on-commercial-genetic-testing-and-the-future-of-the-genetic-counseling-profession
#5
Jennifer Hoskovec
No abstract text is available yet for this article.
April 9, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29626325/what-to-do-with-a-second-chance-in-life-long-term-experiences-of-non-carriers-of-huntington-s-disease
#6
Elisabeth Winnberg, Ulrika Winnberg, Lilian Pohlkamp, Anette Hagberg
Little is known about how people's lives are influenced when going from a 50% risk status of Huntington's disease (HD) to no risk after performing predictive testing. In this study, 20 interviews were conducted to explore the long-term (> 5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children...
April 7, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29603037/adopted-individuals-views-on-the-utility-and-value-of-expanded-carrier-screening
#7
Sara Spencer, Sarah Ewing, Kathryn Calcagno, Suzanne O'Neill
Adoptees may not have family medical history and ethnicity information. Carrier screening assesses reproductive risk. Expanded carrier screening (ECS) screens for many genetic conditions regardless of a patient's knowledge of family history and ethnicity. This study aimed to better understand the opinions and attitudes of adopted individuals on the use of ECS in determining a patient's reproductive genetic risks. Specifically, the study assessed how adopted individuals feel that results of ECS may be useful to them and whether adoptees feel that meeting with a genetics professional in the process of undergoing ECS would be useful...
March 30, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29594659/involvement-and-influence-of-healthcare-providers-family-members-and-other-mutation-carriers-in-the-cancer-risk-management-decision-making-process-of-brca1-and-brca2-mutation-carriers
#8
Athena Puski, Shelly Hovick, Leigha Senter, Amanda Ewart Toland
Deciding between increased cancer screening or prophylactic surgery and the timing of such procedures can be a difficult and complex process for women with BRCA mutations. There are gaps in our understanding of involvement of others in the decision-making process for women with BRCA mutations. This study evaluated the management decision-making process of women with BRCA mutations, focusing on the involvement of others. Grounded theory was used to analyze and code risk management decision-making information from interviews with 20 BRCA mutation carriers...
March 29, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29574538/identifying-factors-underlying-the-decision-for-sickle-cell-carrier-screening-among-african-americans-within-middle-reproductive-age
#9
Tilicia L Mayo-Gamble, Susan E Middlestadt, Hsien-Chang Lin, Jennifer Cunningham-Erves, Priscilla Barnes, Pamela Braboy Jackson
Guidelines recommend that African Americans know their sickle cell trait status to inform reproductive health decisions. Few studies have applied a behavioral theory to identify factors associated with sickle cell trait screening to inform intervention targets to increase this behavior. We applied a Sickle Cell Trait Screening Framework to identify factors associated with African Americans' intention to ask for sickle cell trait screening. Participants (N = 300), ages 18 to 35, completed a cross-sectional survey...
March 24, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29569053/response-to-commercial-genetic-testing-and-the-future-of-the-genetic-counseling-profession
#10
EDITORIAL
McKinsey L Goodenberger, Brittany C Thomas, Teresa Kruisselbrink
No abstract text is available yet for this article.
March 23, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29569052/managing-couple-conflict-during-prenatal-counseling-sessions-an-investigation-of-genetic-counselor-experiences-and-perceptions
#11
Kara Schoeffel, Patricia McCarthy Veach, Karol Rubin, Bonnie LeRoy
Research shows couple conflict occurring during prenatal genetic counseling sessions may be challenging for some genetic counselors. Yet, no study has explored couple conflict in depth. The current study investigated genetic counselors' experiences and perceptions of the nature and context of couple conflict in prenatal sessions and counselor conflict management strategies. Sixteen prenatal genetic counselors recruited through the National Society of Genetic Counselors participated in semi-structured phone interviews asking about how they recognize couple conflict; topics that trigger conflict and when it occurs; individual, cultural, and situational factors associated with conflict; conflict management strategies; and specific examples from their practice...
March 22, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29556875/the-process-of-disclosure-mothers-experiences-of-communicating-x-linked-carrier-risk-information-to-at-risk-daughters
#12
Amy Goldman, Alison Metcalfe, Rhona MacLeod
When a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed about the disclosure of D/BMD carrier risk information to their daughters...
March 19, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29550972/development-and-validation-of-the-genetic-counseling-self-efficacy-scale-gcses
#13
Sarah Caldwell, Katie Wusik, Hua He, Geoffrey Yager, Carrie Atzinger
This study describes the development of a self-efficacy scale that is specific to genetic counseling and based both on Bandura's self-efficacy theory (2006) and the Accreditation Council for Genetic Counseling practice-based competencies (2013). The phase 1 validation compared genetic counseling students (n = 20) and genetic counselors (n = 18). Nine items were removed from the scale at this point for lack of discrimination or redundancy. The phase 2 validation included a larger cohort of genetic counseling students (n = 168)...
March 18, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29550971/talking-points-women-s-information-needs-for-informed-decision-making-about-noninvasive-prenatal-testing-for-down-syndrome
#14
Aimée C Dane, Madelyn Peterson, Yvette D Miller
Adequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women's information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited decision support tool...
March 17, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29550970/factors-influencing-clinical-follow-up-for-individuals-with-a-personal-history-of-breast-and-or-ovarian-cancer-and-previous-uninformative-brca1-and-brca2-testing
#15
Sarah E Chadwell, Hua He, Sara Knapke, Jaime Lewis, Rebecca Sisson, Jennifer Hopper
Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned...
March 17, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29525932/attitudes-toward-and-uptake-of-prenatal-genetic-screening-and-testing-in-twin-pregnancies
#16
Kathryn M Reese, Jennifer Czerwinski, Sandra Darilek, Anthony Johnson, Malorie Jones, Claire N Singletary
The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15)...
March 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29525931/a-commentary-on-opportunities-for-the-genetic-counseling-profession-through-genomic-variant-interpretation-reflections-from-an-ex-lab-rat
#17
Karen Wain
The genetic counseling profession continues to expand and respond to the changing landscape of genomic medicine. "Non-traditional" genetic counseling roles have become more commonplace and the transferability of the genetic counselor skill set has been widely acknowledged, particularly in genetic laboratory settings. As these expanding roles continue to mature, all genetic counselors can benefit by learning and adopting clinically relevant skills, such as genomic variant interpretation, which can be applied to direct patient care...
March 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29525930/exploring-the-issues-surrounding-clinical-exome-sequencing-in-the-prenatal-setting
#18
Swetha Narayanan, Bruce Blumberg, Marla L Clayman, Vivian Pan, Catherine Wicklund
Exome sequencing is a clinical diagnostic test offered primarily for children and adults with suspected genetic conditions. The purpose of this study was to explore issues related to exome sequencing in a reproductive clinical setting. This was a qualitative study using semi-structured interviews. Participants were professionals drawn from four key stakeholder groups-healthcare providers, laboratory/industry, ethics, and government. Transcribed interviews were analyzed for emergent themes. Most participants saw potential clinical utility in offering prenatal exome sequencing for diagnostic purposes as opposed to screening...
March 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29516345/informed-decision-making-in-the-context-of-prenatal-chromosomal-microarray
#19
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29508181/movement-of-genetic-counselors-from-clinical-to-non-clinical-positions-identifying-driving-forces
#20
Stephanie A Cohen, Megan E Tucker
A previous study of genetic counselors (GCs) in the state of Indiana identified movement out of clinical positions within the past 2 years. The aims of this study were to determine if this trend is nationwide and identify reasons why GCs are leaving their positions and factors that might help employers attract and retain GCs. An email was sent to members of the American Board of Genetic Counseling with a link to an online confidential survey. There were 939 responses (23.5% response rate). Overall, 52% of GCs report being highly satisfied in their current position, although almost two thirds think about leaving and one third had changed jobs within the past 2 years...
March 5, 2018: Journal of Genetic Counseling
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