Every year, applicants to genetic counseling graduate programs are burdened with the upfront cost of the application process. In addition to application fees, there are also “hidden costs” of applying, including graduate exam fees, prerequisite coursework, travel expenses for interviews, and time off from work to obtain relevant volunteer experiences. These costs can add up and become a hurdle for many applicants, especially those with fewer resources. Furthermore, the high costs of applying can become a barrier to diversifying the workforce. Because the financial barriers of the application process have not been extensively explored through empirical research, the aims of this study were to address the following: 1) What were the median application costs for prospective students applying to genetic counseling programs in the United States? 2) What aspects of the application process were most expensive? 3) Were there differences between individuals of historically underrepresented racial and ethnic backgrounds in medicine (hURM) and non-underrepresented applicants with respect to total application costs, accrued volunteer hours, parental education, and familial financial assistance? A survey was developed to capture demographic information, application history, application and preparation expenses, time volunteering, and financial resources. A total of 383 responses were analyzed. Median total application costs for respondents who attempted one application cycle were $2,634 (n = 264, range: $202 - $25,693). For those who attempted twice, median total costs were $4,762 (n = 84, range: $909 – $24,206). Interview-related items had the highest median cost (one application cycle: $879, range: $0 - $6,007; two or more application cycles: $1,310, range: $0 - $7,307). Among those who applied to more than one cycle, hURM respondents (n=19) had higher median total costs ($6,713 versus $4,762, p = 0.03) and lower median total volunteer hours (246 versus 381 hours, p =0.03) than those of non-underrepresented individuals (n = 100). Additionally, parental education level differed (p = 0.04) between the two groups. Higher parental education level was correlated with a higher percentage of familial financial support (p = 0.0009). Stakeholders within the profession should implement strategies to reduce financial barriers and the resulting inequities in the application process, which will improve access to genetic counseling graduate programs and enhance efforts to diversify the workforce.

A referral to genetic counseling is commonly made for patients with many types of cancer, given that cancers are hereditary in 5-10% of cases (National Institutes of Health, 2017). However, patients with myeloid malignancies are not often provided with genetic services despite emerging evidence that these cancers are hereditary about 13% of the time (Yang et al., 2022). This study explored the use of somatic genetic testing as a screening tool for hereditary cancer predisposition in patients diagnosed with myeloid malignancies, in the hopes of providing more evidence that this is an appropriate way to identify patients in need of genetics services. The study involved 110 participants whose medical records and somatic genetic test results were analyzed for criteria that indicate a need for genetic counseling and germline genetic testing. Furthermore, this study investigated the current landscape of genetics professionals’ involvement in the care of patients with myeloid malignancies at a single institution. Results from this study showed that 62 out of 110 patients (56%) met criteria for germline genetic testing to assess hereditary cancer risk based on the National Comprehensive Cancer Network 2023 guidelines for AML/MDS and the 2022 European LeukemiaNet guidelines (Döhner et al., 2022; National Comprehensive Cancer Network, 2023). However, none were referred for genetics services on the basis of their diagnosis of myeloid malignancy. Additionally, of those 62 patients, 9 (15%) would not have met those criteria without considering the results of their somatic genetic testing, all of which included genetic variants that could be germline in origin, and as such, would be clinically relevant. This indicates a need for greater awareness among providers (hematologic oncologists, genetic counselors, molecular pathologists, and molecular geneticists) concerning the current recommendations for germline genetic testing for patients with myeloid malignancies and somatic genetic testing. The findings of this study show that utilization of somatic genetic test results is merited as a resource and screening tool for determining whether a patient should receive genetic counseling and consideration of genetic testing.

Provider-patient ethno-racial concordance describes when a patient is seen by a provider from a similar ethno-racial or cultural background, and can include native language concordance, in which a patient is seen by a provider who can speak their native language. Benefits include improvements to both patients’ healthcare outcomes and their perceptions of their care. However, given that 87% of genetic counselors (GCs) are White, many patients do not have access to a concordant GC. The study assessed public attitudes, understanding, and misconceptions of genetics, medical genetics, and genetic counseling through an online survey. Educational videos (intervention), presented by genetics providers and trainees in English, Spanish and Vietnamese, provided education on these genetics topics and compared post-intervention knowledge and attitudes among randomized participants who watched the video from concordant vs. non-concordant providers. Participant groups included Hispanic/Latino (n=28), Asian (n=60), and African American (n=42); 68% had College/Graduate education, and for 36%, their preferred language was Vietnamese or Spanish. 41% (n=53) of participants viewed counseling as beneficial but unaffordable (p=0.005). Four common misconceptions were detected across all groups pre-intervention: 1) Medical information received from an at-home DNA or ancestry kit (such as ancestry.com, 23andme, or similar) is the same as results from a clinical genetic test ordered by a GC; 2) When a genetic condition is found in a fetus, a GC will recommend an abortion (or termination of the pregnancy); 3) GCs help people choose desirable traits for their future children such as height, hair color, and intelligence; and 4) GCs can change a person’s genetic makeup. Statements three and four remained misconceptions post-intervention. Two negative attitudes were expressed: fear of receiving a genetic diagnosis for oneself or a child and the belief that genetic counseling was not affordable. Attitudes about cost improved post-intervention, but attitudes about fear remained. A significant finding across all language and ethno-racial groups was participants’ preference for concordant providers who share those backgrounds, 72% (n=63) and 89% (n=78), respectively. Concordant provider videos positively correlated with improved understanding of genetic counseling in six out of seven statements related to at-home DNA kit results versus clinical genetic tests, availability of GC for those planning to become pregnant, genetic test results aiding in choosing appropriate treatment for illnesses like cancer, GC recommending abortion for genetic conditions found in a fetus, seeing a GC without a family history of genetic conditions, and benefits of GC for adopted individuals or those with limited family information. These results indicate that the benefits of concordance in provider videos were observed even in the absence of direct interaction. Future research should focus on developing culturally and linguistically tailored educational materials and exploring optimal recruitment strategies to improve genomic literacy among underrepresented populations.

Despite public health efforts to mitigate stillbirth and neonatal death over the 20th and 21st centuries, the rate of decline in perinatal death has plateaued. Genetic etiologies, especially those implicated in undiagnosed causes of perinatal death, are thought to contribute to this trend. Ample literature has investigated the diagnostic yield of genetic testing in the case of stillbirth and neonatal demise. However, little research has explored the frequency of involvement of trained genetics specialists, such as medical geneticists and genetic counselors, in perinatal death cases from prenatal ascertainment of anomalies to demise. The current study examined retrospective demographic and clinical data from 111 perinatal demise cases and their gestational parents associated with attendance and uptake of prenatal genetic counseling, post-delivery genetics consult, genetic/genomic testing, and autopsy investigation at a large university-affiliated medical center between November 1st, 2017, and December 1st, 2021. Furthermore, this study investigated the potential diagnostic yield of genetic testing in the presence and absence of genetics specialist involvement providing evaluation and testing recommendations. Finally, this study appraised the degree of patient education in genetic post-counseling documented by genetics specialists versus non-genetics specialists. Through univariate analysis, genetic specialist involvement in perinatal cases was found to be associated with significant increases in genetic testing uptake , abnormal genetic testing results (positive results and results of uncertain significance that have a potential to contribute to disease), and increased degree of documentation of patient education outcomes through genetic post-test counseling compared to those services rendered by non-genetics providers. The findings of this study underscore the importance of active integration of genetics healthcare professionals into the process of perinatal postmortem investigation and allocating the practice of genetics evaluation and genetic testing selection to healthcare professionals with relevant genetics training.

Previous studies assessing the genetic counseling graduate program (GCGP) application experience have been limited and largely focused on admitted applicants; half of applicants are not admitted annually, but there is a significant gap in the understanding of their experiences. This study aimed to evaluate the factors affecting GCGP selection, barriers in the application process and factors affecting the overall application experience for 2021-2024 GCGP applicants. The factors and barriers affecting various GCGP applicant subgroups were also compared. Of the 377 participants who completed the online survey, 30% were matched, 41% were unmatched, and 28% were first-time applicants in 2024. The top factor influencing GCGP selection across all participants was the cost of tuition (74%), while the cost of individual program applications was a frequently selected barrier in the application process (68%) and a factor influencing the overall application experience (49%).GCGP selection by unmatched applicants was notably influenced by the cost of living in a program’s area when compared to matched applicants (p=0.020). Unmatched applicants also more frequently indicated that obtaining advocacy (p<0.001), volunteer (p=0.002), or research (p=0.007) experience were barriers in the application process, when compared to matched applicants. Matched applicants more frequently reported that exam-related costs were barriers in the application process, when compared to unmatched applicants (p=0.002). One notable theme in this study was diversity. Diversity within the patient, faculty and student populations were each more frequently cited by non-White applicants as factors influencing GCGP selection when compared to White applicants (p<0.001 for all three comparisons). Diversity within the genetic counseling field was also cited more frequently as a barrier by non-White (p<0.001) and LGBTQ2IA+ (p=0.007) applicants when compared to White and non-LGBTQ2IA+ applicants, respectively. In addition, diversity within programs was more frequently selected as a barrier by these two subgroups, when compared to White (p<0.001) and non-LGBTQ2IA+ applicants (p=0.031), respectively. A lack of diversity within programs and the field of genetic counseling was cited more frequently by non-White applicants as affecting their overall application experience when compared to White applicants (p<0.001 for both comparisons). Working to address these factors and barriers, particularly for underrepresented groups in medicine, could advance diversity within the genetic counseling field, guide recruitment strategies, and enhance the match/application process and experience.

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