MANAGING VARIANT DISCREPANCY IN HEREDITARY CANCER: CLINICAL PRACTICE, BARRIERS, AND DESIRED RESOURCES

Variants are changes in the DNA whose phenotypic effects may or may not be definitively understood. Because variant interpretation is a complex process, sources sometimes disagree on the classification of a variant, which is called a variant discrepancy. This study aimed to determine the practice of genetic counselors regarding variant discrepancies and to identify the barriers to counseling a variant discrepancy in hereditary cancer genetic testing. This investigation was unique because it was the first to address variant discrepancies from a clinical point of view. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. The vast majority of counselors (93%) had seen a variant discrepancy in practice. The most commonly selected barriers to counseling a variant discrepancy were lack of data sharing (90%) and lack of a central database (76%). Most counselors responded that the ideal database would be owned by a non-profit (59%) and obtain information directly from laboratories (91%). When asked how they approached counseling sessions involving variant discrepancies, the free responses emphasized that counselors consider family history and psychosocial concerns, showing that genetic counselors tailored the session to each individual. Variant discrepancies are an ongoing concern for clinical cancer genetic counselors, as demonstrated by the fact that counselors desired further resources to aid in addressing variant discrepancies, including a centralized database (89%), guidelines from a major organization (88%), continuing education about the issue (74%) and functional studies (58%)

A summary of research in elementary school social studies (1948-1950)

Thesis (Ed.M.)--Boston Universit

Special Libraries, November 1915

Volume 6, Issue 9https://scholarworks.sjsu.edu/sla_sl_1915/1008/thumbnail.jp

Undergraduate Library Internships at Musselman Library, Gettysburg College

In 2015-2016, Musselman Library at Gettysburg College participated in Cohort 3 of the Association of College and Research Libraries’ Assessment in Action program. This report outlines an assessment completed of former undergraduate library interns in order to explore the impact their internship experience had on the development of career goals, acceptance to and preparation for graduate education, and their early career. Through an online survey (n= 45) and six semi-structured telephone interviews, respondents reported a positive impact on the above areas

Can You Feel it? How Asking Influences Reports of Psychophysiological States

213 participants were shown a sequence of five different increasingly disgusting images. Depending on condition, they were either directly asked (solicited) or prompted to volunteer (unsolicited) whether or not they were experiencing disgust in response to a given image. We found that the act of solicitation directly lowers the threshold at which individuals are willing to provide information about their internal psychophysiological experience of disgust

GENETIC COUNSELOR UTILIZATION AND INTERPRETATION OF SOMATIC TUMOR TESTING IN EVALUATION FOR LYNCH SYNDROME

Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, PMS2) are diagnosed with LS and subsequently recommended to proceed with high risk screening protocols to increase prevention and early detection of LS-related cancers. Various tumor studies can help identify those at high risk for LS, but sometimes create uncertainty with discordant screening and germline results, leading to unexplained mismatch repair deficiency (UMMRD). Somatic testing of the MMR genes has created opportunities for resolving UMMRD, thus clarifying LS status and ensuring appropriate cancer surveillance. However, guidelines for such testing are currently limited. The purpose of this study was to examine current and hypothetical ordering practices of cancer genetic counselors for LS evaluation and to investigate participants’ interpretation of somatic MMR testing results. Two-hundred eligible participants were recruited through the National Society of Genetic Counselors listserv and answered questions regarding demographics, ordering practices, barriers to somatic MMR testing, theoretical patient scenarios, and need for further guidelines. Statistical analysis was done using Chi-square, Fisher exact, and Wilcoxon rank-sum tests while themes were identified from free-text responses. Most respondents did not include somatic MMR testing in the work-up for LS and did not routinely order this testing, but indicated interest in ordering this in conjunction with germline testing. The gap between preferred testing strategies and current ordering practices for somatic MMR testing may be due to reported laboratory and insurance-related barriers, particularly cost and coordination of tissue specimens. Nearly all individuals endorsed the need for additional guidelines for somatic MMR testing, which could provide support to reduce barriers, encourage insurance coverage, and allow for appropriate screening recommendations for patients and family members of those with UMMRD

Texas Physicians\u27 Awareness and Utilization of Genetic Services

The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to the majority of genetic tests and services hinges on physicians’ ability to identify patients at risk for genetic disease and provide appropriate testing and counseling or refer to genetic specialists. Recent research demonstrates the need for referrals to genetic specialists by showing that many physicians lack skills required to perform appropriate genetic services, such as making proper risk assessments, providing genetic counseling, ordering genetic testing and interpreting results. However, little research exists on physicians’ awareness and utilization of genetic services. In this study, an electronic survey evaluating practicing physicians’ awareness of, utilization of and perceived barriers to genetic services in Texas was distributed via state physician organizations. Of the 157 participants, approximately half reported they were moderately or very aware of genetic testing and services in their area. Very few reported awareness of telemedicine services. Over two-thirds reported never or rarely referring to genetic counselors or other genetic specialists, despite 75% reporting they had noticed an increased impact of genetics on their field and 61% reporting they had discussed genetics more in their day-to-day practice in the last 5-10 years. Only 20% reported genetics was very integral to their specialty. Over three-fourths of all participants indicated interest in learning more about genetics, genetic testing and genetic services. Among the most frequently chosen barriers to genetic counselors were awareness-related barriers such as not knowing how to refer to a genetic counselor. Responses to many items varied significantly by medical specialty. The results identify a need to increase awareness of genetic services and referral logistics. Specific findings can help direct outreach efforts to educate clinicians, such as developing clinically meaningful, specialty-specific educational objectives

Special Libraries, July-August 1953

Volume 44, Issue 6https://scholarworks.sjsu.edu/sla_sl_1953/1005/thumbnail.jp

Special Libraries, July-August 1953

Volume 44, Issue 6https://scholarworks.sjsu.edu/sla_sl_1953/1005/thumbnail.jp