Knowledge and Health Beliefs of Sickle Cell Disease and Sickle Cell Trait: The Influence on Acceptance of Genetic Screening for Sickle Cell Trait

Sickle cell trait carriers are healthy; however, they are at risk to have children with sickle cell disease (SCD), a serious hematologic disorder. Unsuccessful population screening for sickle cell trait (SCT) has resulted in a large population of African American individuals entering childbearing age with no knowledge of their risk. Recent experience with newborn screening follow-up of hemoglobinopathies has shown that interest in genetic screening for SCT is low. This study aims to understand and increase the level of acceptance of genetic screening among the African American population through a program of education and assessment of the current state of SCD cultural health beliefs. This is important for Public Health because SCD is the most common genetic disorder affecting the African American community and education to promote screening must be sensitive to the cultural beliefs of the community. Utilizing a method of anonymous surveys given to female African American patients within a busy prenatal clinic the effect of education of SCD on the acceptance of genetic screening for SCT has been assessed. The Health Belief Model was used to assess the current state of health beliefs regarding SCD and trait testing through anonymous surveys. This study revealed that a brief educational intervention regarding SCD in a prenatal setting is effective in significantly increasing knowledge of SCD and acceptance of screening for SCT (p-value < 0.001). African American women of childbearing age have a high perception of severity of SCD, a low perception of susceptibility to SCD, a high perception of benefit to SCT testing and a low perception of barriers to testing for SCT.Education within a prenatal setting can be used as a model to increase acceptance of screening for SCT. A high level of knowledge of SCD is associated with a high level of acceptance; however, the Health Belief Model revealed that currently the majority of the participants do not feel that they are personally at risk to have a child with SCD, regardless of SCD knowledge. Future education of SCD must take into account these beliefs in order to effectively motivate interest in SCT testing

Report from the National Society of Genetic Counselors Service Delivery Model Task Force: A Proposal to Define Models, Components, and Modes of Referral

The Service Delivery Model Task Force (SDMTF) was appointed in 2009 by the leadership of the National Society of Genetic Counselors (NSGC) with a charge to research and assess the capacity of all existing service delivery models to improve access to genetic counseling services in the context of increasing demand for genetic testing and counseling. In approaching this charge, the SDMTF found that there were varying interpretations of what was meant by “service delivery models” and the group held extensive discussions about current practices to arrive at consensus of proposed definitions for current genetic service delivery models, modes of referral and components of service delivery. The major goal of these proposed definitions is to allow for conversations to begin to address the charge to the committee. We propose that current models of service delivery can be defined by: 1) the methods in which genetic counseling services are delivered (In‐person, Telephone, Group and Telegenetics), 2) the way they are accessed by patients (Traditional referral, Tandem, Triage, Rescue and Self‐referral) and 3) the variable components that depend upon multiple factors unique to each service setting. This report by the SDMTF provides a starting point whereby standardized terminology can be used in future studies that assess the effectiveness of these described models to overcome barriers to access to genetic counseling services.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146876/1/jgc40645.pd

Traditional Roles in a Non‐Traditional Setting: Genetic Counseling in Precision Oncology

Next generation sequencing technology is increasingly utilized in oncology with the goal of targeting therapeutics to improve response and reduce side effects. Interpretation of tumor mutations requires sequencing of paired germline DNA, raising questions about incidental germline findings. We describe our experiences as part of a research team implementing a protocol for whole genome sequencing (WGS) of tumors and paired germline DNA known as the Michigan Oncology Sequencing project (MI‐ONCOSEQ) that includes options for receiving incidental germline findings. Genetic counselors (GCs) discuss options for return of results with patients during the informed consent process and document family histories. GCs also review germline findings and actively participate in the multi‐disciplinary Precision Medicine Tumor Board (PMTB), providing clinical context for interpretation of germline results and making recommendations about disclosure of germline findings. GCs have encountered ethical and counseling challenges with participants, described here. Although GCs have not been traditionally involved in molecular testing of tumors, our experiences with MI‐ONCOSEQ demonstrate that GCs have important applicable skills to contribute to multi‐disciplinary care teams implementing precision oncology. Broader use of WGS in oncology treatment decision making and American College of Medical Genetics and Genomics (ACMG) recommendations for active interrogation of germline tissue in tumor‐normal dyads suggests that GCs will have future opportunities in this area outside of research settings.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147078/1/jgc40655.pd

Identification of Genetic Counseling Service Delivery Models in Practice: A Report from the NSGC Service Delivery Model Task Force

Increasing demand for genetic services has resulted in the need to evaluate current service delivery models (SDMs) and consider approaches that improve access to and efficiency of genetic counseling (GC). This study aimed to describe SDMs currently used by the GC community. The NSGC membership was surveyed regarding the use of four SDMs: in‐person GC, telephone GC, group GC, and telegenetics GC. Variables related to access and components of use were also surveyed, including: appointment availability, time‐per‐patient, number of patients seen, billing, and geographic accessiblity. Seven hundred one usable responses were received. Of these, 54.7 % reported using an in‐person SDM exclusively. The remainder (45.3 %) reported using multiple SDMs. Telephone, group and telegenetics GC were used often or always by 8.0 %, 3.2 % and 2.2 % of respondents, respectively. Those using an in‐person SDM reported the ability to see the highest number of patients per week (p 4 h away. This study shows that genetic counselors are incorporating SDMs other than traditional in‐person genetic counseling, and are utilizing more than one model. These adaptations show a trend toward shorter wait time and shorter length of appointments. Further study is indicated to analyze benefits and limitations of each individual model and factors influencing the choice to adopt particular models into practice.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146891/1/jgc40411.pd