An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)
AbstractThe Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic ...
Source: Journal of Genetic Counseling - April 27, 2017 Category: Genetics & Stem Cells Source Type: research
A Qualitative Look into Israeli Genetic Experts ’ Insights Regarding Culturally Competent Genetic Counseling and Recommendations for Its Enhancement
AbstractThe aim of this study is to describe the perceptions and recommendations of Israeli genetic experts in regard to culturally competent genetic counseling. Qualitative data was collected from 15 semi-structured interviews with Israeli genetics experts. Recurring themes were identified using"thematic analysis" and coded by means of"grounded theory". Our analysis divides data from the genetic experts' interviews into four main themes:Why is culturally competent genetic counseling important? (Describing its contribution to individuals and to society); who is the recipient of culturally competent gene...
Source: Journal of Genetic Counseling - April 25, 2017 Category: Genetics & Stem Cells Source Type: research
Development of a Streamlined Work Flow for Handling Patients ’ Genetic Testing Insurance Authorizations
AbstractObtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data. Tasks needed for genetic testing insurance authorization were outline...
Source: Journal of Genetic Counseling - April 24, 2017 Category: Genetics & Stem Cells Source Type: research
Cancer Genetic Counseling and Testing in an Era of Rapid Change
This study shows that cancer genetic counselors are adapting quickly to genetic testing changes, but with wide variability. Findings suggest future research to elucidate clinicians’ and patients’ preferences for guidance on t he clinical implementation of next-generation sequencing. (Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - April 22, 2017 Category: Genetics & Stem Cells Source Type: research
Erratum to: A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults who Have Muenke Syndrome and their Partners
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - April 21, 2017 Category: Genetics & Stem Cells Source Type: research
Erratum to: Information Mismatch: Cancer Risk Counseling with Diverse Underserved Patients
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - April 21, 2017 Category: Genetics & Stem Cells Source Type: research
Influence of Genetic Counseling Graduate Program Websites on Student Application Decisions
This study investigated how genetic counseling educational program websites affect application decisions via an online survey sent to current students and recent graduates. Program leadership: directors, assistant directors, associate directors, were also surveyed to determine where their opinions coincided or differed from those reported by students and recent graduates. Chi square analysis and t-tests were used to determine significance of results. A two-sample t-test was used to compare factors students identified as important on a 5-point Likert scale with those identified by directors. Thematic analysis revealed three...
Source: Journal of Genetic Counseling - April 19, 2017 Category: Genetics & Stem Cells Source Type: research
Motivation, Perception, and Treatment Beliefs in the Myocardial Infarction Genes (MI-GENES) Randomized Clinical Trial
In this study, participants at intermediate 10-year risk of CHD were randomized to receive either their estimated conventional risk score (CRS) alone, or a CRS and a genetic risk score (GRS), by a genetic counselor. Surveys on motivation to participate in and perception of genetic testing for CHD were administered at 3 months and treatment beliefs at 6 months following risk disclosure. Survey responses used Likert scales. Linear and logistic regression were used for analysis. Overall, motivation to participate in genomic clinical trials was favorable and did not differ between the CRS and GRS groups (16.95 ± 0.82 vs. ...
Source: Journal of Genetic Counseling - April 6, 2017 Category: Genetics & Stem Cells Source Type: research
Insights into BRCA1/2 Genetic Counseling from Ethnically Diverse Latina Breast Cancer Survivors
AbstractDespite the disproportionate underuse of genetic counseling and testing forBRCA1/2 (BRCA)-associated hereditary breast and ovarian cancer (HBOC) risk among Latinas, little is known about the associated barriers and facilitators. We conducted in-depth qualitative interviews with 20 at-risk Latina women from diverse backgrounds. Eligible women were diagnosed with breast cancer<50 years, with or without a family history of breast and/or ovarian cancer (>1 first-degree relative diagnosed<50 years). All interviews were conducted in Spanish, audio recorded, transcribed, and translated into English. Two bilin...
Source: Journal of Genetic Counseling - April 4, 2017 Category: Genetics & Stem Cells Source Type: research
Minding the Genes: a Multidisciplinary Approach towards Genetic Assessment of Cardiovascular Disease
AbstractGenetic assessment for inherited cardiovascular disease (CVD) is increasingly available, due in part to rapid innovations in genetic sequencing technologies. While genetic testing is aimed at reducing uncertainty, it also produces awareness of potential medical conditions and can leave patients feeling uncertain about their risk, especially if there are ambiguous results. This uncertainty can produce psychological distress for patients and their families undergoing the assessment process. Additionally, patients may experience psychological distress related to living with inherited CVD. In order to more effectively ...
Source: Journal of Genetic Counseling - April 1, 2017 Category: Genetics & Stem Cells Source Type: research
Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents
AbstractHealthcare professionals (HCPs) regularly face requests from parents for predictive genetic testing of children for adult-onset conditions. Little is known about how HCPs handle these test requests, given that guidelines recommend such testing is deferred to adulthood unless there is medical benefit to testing before that time. Our study explored the process of decision-making between HCPs and parents. Semi-structured interviews were conducted with 34 HCPs in 8 regional genetic services across the UK, and data were thematically analysed. We found that instead of saying ‘yes’ or ‘no’ to such requests, many H...
Source: Journal of Genetic Counseling - April 1, 2017 Category: Genetics & Stem Cells Source Type: research
Teaching Genetic Counseling Skills: Incorporating a Genetic Counseling Adaptation Continuum Model to Address Psychosocial Complexity
AbstractGenetic 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 propose...
Source: Journal of Genetic Counseling - April 1, 2017 Category: Genetics & Stem Cells Source Type: research
Commentary: “My Identical Twin Sequenced Our Genome”
(Source: Journal of Genetic Counseling)
Source: Journal of Genetic Counseling - April 1, 2017 Category: Genetics & Stem Cells Source Type: research
Prospective Evaluation of Predictive DNA Testing for Huntington ’s Disease in a Large German Center
We present a prospective study of counselees seeking predictive testing for Huntington ’s disease at the Huntington Center North Rhine-Westphalia (Bochum, Germany) between 2010 and 2012. The aim was to observe the decision-making process of at-risk individuals and explore their experiences following the decision as well as the impacts of positive and negative mutation results. Data were collected using two standardized questionnaires as well as via a semi-standardized telephone interview one year after the initial counseling session. Seventy-two individuals participated in at least one of the three phases of the survey...
Source: Journal of Genetic Counseling - March 30, 2017 Category: Genetics & Stem Cells Source Type: research
Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients
This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information. The survey used standardized instruments including the Impact of Event Scale (IES), Multidimensional Impact of Cancer Risk Assessment (MICRA), Satisfaction with Decision Instrument (SWD), Ambiguity Tolerance Scale (AT-20), genetics knowledge, and utilization of genetic test results. Study results suggested that unaffected individuals with a family history of breast or ovarian cancer who...
Source: Journal of Genetic Counseling - March 29, 2017 Category: Genetics & Stem Cells Source Type: research
