Factors influencing applicants' rank order in the Genetic Counseling Admissions Match.

Previous studies have identified factors that influence genetic counseling applicants' decisions to initially apply to certain schools. However, research on the factors that influence their Genetic Counseling Admissions Match (GCAM) rank order preferences are limited. The purpose of this study was to investigate these factors via an online survey sent to current students and recent graduates who participated in the GCAM. Participants (N = 415) were asked to rank factors within six categories (faculty, students, didactic curriculum, clinical training, cost of attendance, and general program information) on a 7-point Likert scale. Factors related to clinical training were most influential to applicants (M = 5.68), while factors related to didactic training were least influential to applicants (M = 4.63). Several significant differences existed between underrepresented and overrepresented applicants; overrepresented was defined as White, non-Hispanic female. Underrepresented applicants were more influenced by the diversity of program faculty (p = 0.016), students (p ≤ 0.001), and the location/patient population (p = 0.003), while overrepresented applicants are more influenced by program graduation and board pass rates (p = 0.021). The results of our study suggest that GCAM rank preferences are influenced by a large number of factors. Additionally, by demonstrating significant differences in the influence of program diversity on underrepresented applicants, the results of our study suggest that JEDI efforts of genetic counseling training programs should continue to be an area of focus, in order to create a more welcoming environment for all students and to further diversify the genetic counseling profession.

Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013-2018.

BACKGROUND: Early identification of hereditary cancer risk would save lives, but genetic testing (GT) has been inadequate. We assessed i) trends for hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and other GT and ii) factors associated with receipt of GT. METHODS: We used data from the Arkansas All-Payer Claims Database from January 2013 through June 2018 (commercial, Medicaid), December 2017 (state employee), or December 2016 (Medicare) and identified enrollees with ≥1 month of enrollment. Using Current Procedural Terminology (CPT-4) codes, rates for GT were calculated per 100,000 person-quarters and time series regressions estimated. Second, GT and covariate information for enrollees with 24 months of continuous enrollment were used to estimate separate logistic regression models for each GT category. RESULTS: Among 2,520,575 unique enrollees, HBOC testing rates were 2.2 (Medicaid), 22.0 (commercial), 40.4 (state employee), and 13.1(Medicare) per 100,000 person-quarters and increased linearly across all plans. Older age (OR=1.24; 95%CI 1.20 - 1.28), female sex (OR=18.91; 95%CI 13.01 - 28.86), higher comorbidity burden (OR=1.08; 95%CI 1.05 - 1.12), mental disorders (OR=1.53; 95%CI 1.15 - 2.00), and state employee coverage (OR=1.65; 95%CI 1.37 - 1.97) were positively associated with HBOC testing. Less than 1 of 10,000 enrollees received Lynch syndrome testing, while < 5 of 10,000 received HBOC testing. CONCLUSION: GT rates for hereditary cancer syndromes have increased in Arkansas but remain low. Receipt of GT was explained with high discrimination by sex and plan type. IMPACT: Expansion of GT for hereditary cancer risk in Arkansas is needed to identify high-risk individuals who could benefit from risk-reduction strategies.

Can Automated Alerts in the Electronic Health Record Encourage Referrals for Genetic Counseling and Testing Among Patients at High Risk for Hereditary Cancer Syndromes?

PURPOSE: Up to 10% of cancers may be associated with an inherited mutation that increases cancer risk. National guidelines emphasize referral for genetic counseling and testing for patients whose personal and/or family history increases their risk of having a hereditary cancer syndrome. METHODS: To increase appropriate referrals for cancer genetic counseling and testing, we piloted an automated alert known as a Best Practice Advisory (BPA) in the electronic health record, Epic, to notify oncology providers when a patient had a personal and/or family history that merited referral to cancer genetics. Epic could not gather the complex clinical data needed for the referral decision automatically, necessitating staff completion of a questionnaire. After educating providers, the BPA was implemented with resources to support its use. RESULTS: Initial interaction with the alert was high but rapidly dwindled, resulting in questionnaire completion in 7.2% of more than 32,000 encounters and 14.9% of patients over 9 months. However, cancer genetics referrals increased 95.9% during the pilot (P < .0001), with 18.5% placed through the BPA and the rest from a non-BPA mechanism. Semistructured interviews with key stakeholders revealed not only general acceptance of the BPA concept but also barriers to completion, such as pressure to room patients quickly in the face of competing BPAs and lack of buy-in from some providers. CONCLUSION: These results suggest that provider engagement and BPA fatigue are significant obstacles to acceptance of a new automated alert. Despite interest in a tool for cancer genetics, the demand on clinical time for this complex BPA was poorly tolerated.

Exploring genetic counselors' use of pedigree symbols to represent assisted reproductive technology.

The standardized pedigree nomenclature recommendations created by the National Society of Genetic Counselors Pedigree Standardization Work Group contains some Assistive Reproductive Technology (ART) specific nomenclature. However, the work groups' recommendations lack instructions on how to document 'the number of embryos conceived, frozen, and implanted, along with their genetic testing history' (Bennett et al., 2008, p. 429). The purpose of this qualitative study was to determine if the current symbols are sufficient for what genetic counselors need in the ART field and how genetic counselors are addressing any gaps. Ten genetic counselors with ART counseling experience participated in semi-structured interviews. Participants reported using standard symbols and creating their own designs when standard symbols are not available for applicable ART situation. Thematic analysis identified seven reasons why participants felt that ART should be recorded on the medical pedigree. The 3 most common themes identified were: (1) medical assessment and facilitating development of a differential diagnosis, (2) clarity and continuity of documentation, and (3) psychosocial assessment of the family and fertility experience. All participants felt that the current nomenclature was not sufficient for their clinical practice and would support additional standard symbols. This study supports the need for development of further pedigree nomenclature inclusive of patients with ART experiences.

Challenges in recruiting African-American women for a breast cancer genetics study.

BACKGROUND: African-American women, especially in the southern United States, are underrepresented in cancer genetics research. A study was designed to address this issue by investigating the germline mutation rate in African-American women in Arkansas with a personal and/or family history of breast cancer. Women were tested for these mutations using a large panel of breast cancer susceptibility genes. In this analysis, we discuss the challenges encountered in recruiting African-American women from an existing biorepository to participate in this study. METHODS: We attempted to contact 965 African-American women with a personal and/or family history of breast cancer who participated in Spit for the Cure (SFTC) between 2007 and 2013 and provided consent to be recontacted. The SFTC participants were invited by telephone and email to participate in the genetic study. Enrollment required completion of a phone interview to obtain a family and medical history and return of a signed consent form. RESULTS: Among eligible SFTC participants, 39.6% (382/965) were able to be contacted with the phone numbers and email addresses they provided. Of these, 174 (45.5%) completed a phone interview and returned a signed consent form. Others were not able to be contacted (n = 583), declined to participate (n = 57), did not keep phone interview appointments (n = 82), completed the phone interview but never returned a signed consent (n = 54), were deceased (n = 13), or were too confused to consent to participate (n = 2). CONCLUSIONS: Recruiting African-American women into our breast cancer genetics study proved challenging primarily due to difficulty establishing contact with potential participants. Given their prior participation in breast cancer research, we anticipated that this would be a highly motivated population. Indeed, when we were able to contact SFTC participants, only 14.9% declined to participate in our study. Innovative communication, retention, and recruitment strategies are needed in future studies to address the recruitment challenges we faced.