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 < 0.0001) and were the most likely to bill in some manner (p < 0.0001). Those using telegenetic and telephone GC served patients who lived the furthest away, with 48.3 % and 35.8 %% respectively providing GC to patients who live >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.
Importance Sebaceous neoplasms (SN) define the Muir-Torre syndrome (MTS) variant of Lynch syndrome (LS), which is associated with increased risk for colon and other cancers necessitating earlier and more frequent screening to reduce morbidity and mortality. Immunohistochemical (IHC) staining for mismatch repair (MMR) proteins in SN can be used to screen for LS, but data on subsequent germline genetic testing to confirm LS diagnosis is limited. Objective To characterize the utility of IHC screening of SN in identification of germline MMR mutations confirming LS Design Retrospective study Setting Two academic cancer centers Participants 86 adult patients referred for clinical genetics evaluation after diagnosis of SN Main Outcomes and Measures Results of tumor IHC testing and germline genetic testing were reviewed to determine positive predictive value and sensitivity of IHC in diagnosis of LS. Clinical variables, including age at diagnosis of SN, clinical diagnostic criteria for LS and MTS, and family history characteristics were compared between mutation carriers and non-carriers. Results 25 (29.1%) of 86 patients with SN had germline MMR mutations confirming LS. Among 77 patients with IHC testing on SN, 38 (49.4%) had loss of staining of one or more MMR proteins, and 14 had germline MMR mutations. IHC correctly identified 13/16 MMR mutation carriers, corresponding to 81.3% sensitivity. Ten of 12 (83.3%) patients with > 1 SN had MMR mutations. 52% of MMR mutation carriers did not meet clinical diagnostic criteria for LS, and 44% did not meet the clinical definition of MTS. Conclusions and Relevance IHC screening of SN is effective in identifying patients with germline MMR mutations and can be used as a first line test when LS is suspected. Abnormal IHC, including absence of MSH2, is not diagnostic of LS and should be interpreted cautiously in conjunction with family history and germline genetic testing. Use of family history to select patients for IHC screening has significant limitations, suggesting that universal IHC screening of SN merits further study. Clinical genetics evaluation is warranted for patients with any of the following: abnormal IHC, normal IHC with personal or family history of other LS-associated neoplasms, or multiple SN.
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. This novel mutation predicts p.Tyr663X, which is a truncated protein that is missing the last three exons, including the DIX (Disheveled and AXIN interacting) domain. This nonsense mutation is predicted to destroy the inhibitory action of AXIN2 on WNT signaling. Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia. Our report provides additional evidence supporting an autosomal dominant AXIN2-associated ectodermal dysplasia and neoplastic syndrome.
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.
The common sense model posits that individuals' understanding of illness is based upon somatic symptoms and life experiences and thus may differ significantly from the biomedical view of illness. The current study used the common sense model to understand cancer risk perceptions in 99 individuals testing for BRCA1/2 mutations. Specifically, we examined change from post-counseling to post-result in (1) absolute risk (risk of developing cancer in one's lifetime) and (2) comparative risk (risk relative to the general population). Results indicated that absolute risk showed a trend such that those with a personal history of cancer receiving uninformative negative results reported decreased absolute risk. Further, individuals receiving uninformative negative results reported decreased comparative risk. Those with no personal cancer history receiving informative negative results did not decrease in risk over time nor did their risk differ from those with a personal cancer history, evidencing unrealistic pessimism regarding their risk of cancer. The reasons provided for individuals' risk perceptions could be classified in terms of attributes of the common sense model and included the: (1) causes of cancer (e.g. family history, mutation status); (2) control or cure of cancer through health behaviors and/or surgery; and (3) perceived timeline for developing cancer (e.g. time left in life to develop cancer). We conclude that key to developing interventions to improve understanding of cancer risk and promoting effective cancer control mechanisms is an understanding of the specific reasons underlying individuals' perceptions of cancer risk.
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