1,721,016 research outputs found
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Evaluation of Somatic Genetic Testing as a Screening Tool to Detect Hereditary Cancer Predisposition in Patients Diagnosed with Myeloid Malignancies
Get PDFA 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
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Assessing the Impact of Provider-Patient Ethno-Racial and Linguistic Concordance on Knowledge and Attitudes of Underrepresented Populations towards Genetic Counseling
Get PDFProvider-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
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Affirming the Utility of Somatic Genetic Testing as a Screening Tool to Identify Patients with a Possible Hereditary Myeloid Malignancy
Get PDFUnderstanding of germline predispositions for myeloid malignancies has expanded with recent research that found up to 13.6% of these cancers are hereditary, but the uptake of germline genetic testing for myeloid malignancies has been low (Yang et al., 2022; Feurstein et al., 2022; Jerez & Santiago, 2024). This study was an extension of a previous UCI study conducted by Rachel Collier that sought to evaluate the utility of somatic NGS genetic testing as screening tool to identify participants with potentially germline variants found on somatic testing (Collier, 2023). The study period was extended from June 9, 2020 to September 26, 2024 and seven additional genes were added to a “Relevant Gene List”. This study included 327 participants whose somatic NGS panel test results and medical records were analyzed to determine whether a participant’s history warranted a recommendation of germline genetic testing. With an extended study period to review additional somatic genetic test reports from the prior study as well as an expanded gene list, this study found that 197 out of 327 (60%) participants with myeloid malignancies met criteria for germline genetic testing based on 2022 European Leukemia Network guidelines as well as 2024 National Comprehensive Cancer Network guidelines for Breast/Ovarian/Pancreatic/Prostate and Colorectal/Endometrial/Gastric cancers (Döhner et al., 2022; Gupta et al., 2024, Daley et al., 2024). Twenty eight of the 197 (14%) met criteria for germline genetic testing based only on somatic NGS results that identified potentially germline variants. Twelve of the 197 participants (6%) were referred to genetic counseling due to their myeloid malignancy. Thirty-five of the 197 (18%) participants met the criteria of all three guidelines based on personal or family history; six participants (3%) met only the NCCN criteria for personal or family history and 128 (65%) met only ELN criteria for personal or family history. Notably, 192 of the 327 participants (59%) had insufficient details on family history (such as type of cancer and/or age of onset) in their medical records, which made it impossible to determine whether the individual met one or more criteria. The impact of 32 letters sent to medical providers in the prior study (Collier R et al., 2023) that recommended referral to genetic counseling and consideration of germline genetic testing was assessed and only five participants were referred for genetic counseling; none had germline genetic testing performed. This study affirms the finding that somatic NGS testing is a valuable tool for identifying patients with potentially hereditary myeloid malignancies and highlights a greater need for awareness among providers, trainees, and molecular laboratories regarding current guidelines for germline genetic testing among patients with a myeloid malignancy
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Analysis of Financial Barriers Experienced by Prospective Genetic Counseling Students
Get PDFEvery 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 202 - 4,762 (n = 84, range: 24,206). Interview-related items had the highest median cost (one application cycle: 0 - 1,310, range: 7,307). Among those who applied to more than one cycle, hURM respondents (n=19) had higher median total costs (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
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Analysis of the Financial Resources Genetic Counseling Students Use to Fund Their Training
Get PDFPrevious studies investigating the financial resources genetic counseling (GC) trainees use to fund their training are limited in number, with the most recent study completed in 2014. This study aimed to evaluate the various financial resources that GC trainees use to fund their training and make comparisons among different groups via an anonymous online survey to graduates of GC training programs between 2019 and 2026. Of the 477 responses eligible for analysis, 63.6% were from 2019 – 2024 graduates and the rest were from current GC trainees. A quarter of participants self-identified as Disadvantaged (per NIH definition) and 11.5% identified as having a disability. Additionally, 15.9% of participants were classified as historically underrepresented in medicine (hURM). One notable theme seen was the need of financial education for some trainees. A surprisingly high proportion of participants responded “No” or “I don’t know” when asked if they were aware of (44%) or had access to (50.7%) financial advising/education or were aware if their GC training program (GCTP) offered this service (71.3%). Additionally, 23% of participants reported not knowing about federal or other loan forgiveness programs despite reporting debt from training.
Among the different subgroup comparisons, many notable differences were found. Overall, Disadvantaged participants were more likely to identify as non-White (p<0.001) and hURM (p<0.001) than non-Disadvantaged participants. Additionally, these participants were less likely to have access to familial financial assistance (p<0.001 for non-Whites, p=0.036 for Whites) than their counterparts. Regardless of Disadvantaged status, non-White participants were more likely to report over 150,000 in educational debt (p=0.006 for Disadvantaged; p=0.019 for non-Disadvantaged) and more likely to report using credit cards to pay for tuition (p=0.017 for Disadvantaged; p=0.03 for non-Disadvantaged). Furthermore, Disadvantaged non-White participants were less likely to use familial financial assistance (p=0.022) and more likely to use loans (p<0.001) to pay for tuition than non-Disadvantaged Non-White participants, who were more likely to use government assistance in general (p<0.001). In contrast, non-Disadvantaged White participants were more likely to report over 150,000 in debt than their Disadvantaged White counterparts.
When analyzing participants by hURM status, Disadvantaged hURM participants were more likely to use credit cards to pay for tuition (p=0.036) than Disadvantaged non-hURM participants. Among the non-Disadvantaged, hURM participants were more likely to report feeling their post-graduate salary was insufficient (p=0.022) and report using government assistance in general (p<0.001). In addition, they specifically reported using government assistance to pay for housing (p<0.001) and food (p<0.001) more than their counterparts.
Lastly, when analyzing participants by Disability Status, Disabled individuals were less likely to report being employed than non-Disabled individuals in their first (p<0.001) and second years (p<0.001) of training and were more likely to report feeling their post-graduate salary was insufficient (p=0.008).
This study is revealing current strategies for covering the costs of GCTP which hopefully will contribute to increasing diversity in this field, illustrate the need for more funding for GC training, and improve the experiences of prospective, incoming, and current GC trainees
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Assessing the Factors and Barriers That Affect the Experience of Applicants Participating in the National Matching Services (NMS) Genetic Counseling Match Program
Get PDFPrevious 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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Assessing the Factors and Barriers That Affect the Experience of Applicants Participating in the National Matching Services (NMS) Genetic Counseling Match Program
Get PDFPrevious studies have assessed the factors applicants to genetic counseling graduate programs (GCGP) consider when deciding which programs to apply to and factors they consider to be barriers in the application process. Previous work by Lem et al. (2024) identified factors that were commonly selected among all applicants to GCGPs during the 2021-2024 admissions cycles. Some of these factors were shown to be significantly different among demographic subgroups. This study further analyzed factors selected by individuals (N=377) within four demographic subgroups: race, gender, sexuality and college generation status. Financial factors in the GCGP application process were found to be important for first-generation college students. First-generation college students were about two times more likely to select financial factors, including availability of part-time work (p=0.03; Odds ratio (OR) = 1.728; 95% confidence interval (CI): 1.056-2.827) and additional financial resources (p=0.046; OR=1.727; 95% CI: 1.01-2.954), as considerations in which programs to apply to. Our findings also suggest first-generation college students were about three times more likely to select financial factors, including cost of the National Matching Service (NMS) (p<0.001; OR=3.075; 95% CI: 1.801-5.252), cost of GRE and sending test scores (p=0.006; OR=2.979; 95% CI: 1.375-6.453), and cost of individual program applications (p=0.002; OR=2.638; 95% CI: 1.416-4.914) as barriers in the GCGP application process. Implementing financial assistance programs in the application process could help support first-generation college students.
Diversity related factors were also found to be important considerations for historically underrepresented medicine (hURM) applicants. Non-White applicants were about 5.5 times more likely to select diversity factors, including diversity within students (p<0.001; OR=5.494; 95% CI: 3.357-8.992) and diversity within faculty (p=0.001; OR=5.550; 95% CI: 3.339-9.224) as factors affecting which programs applicant applied to. Lack of diversity within individual programs was significantly more likely to be a barrier for non-White applicants (p<0.001; OR= 11.472; 95% CI: 5.939-22.162) and non-women applicants (p=0.006; OR=3.796; 95% CI: 1.47-9.803). Similarly, diversity within the field of genetic counseling was also significantly more likely to be a barrier for non-White applicants (p<0.001; OR=10.914; 95% CI: 5.606-21.251), non-women applicants (p<0.001; OR=6.91; 95% CI: 2.653-17.99) and first-generation college students (p=0.004; OR=2.556; 95% CI: 1.342-4.867). Diversifying the faculty and students of GCGPs could help to eliminate the barriers in the application process experienced by non-White and non-women applicants.
In addition to barriers in the GCGP application process, a larger proportion of non-White applicants (46.6%, p<0.001) and non-women applicants (48.4%, p=0.009) were introduced to the field over the age of 21 compared to White applicants (28.3%) and women applicants (32.9%), who were introduced earlier. Our findings suggest there is a need to implement more opportunities for exposure to the profession of genetic counseling earlier in education, including high-school and undergraduate students, to reach more diverse populations. Additional analyses of survey data regarding GCGP application experience suggest significant differences across subpopulations
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Investigating Uptake and Impact of Genetic and Genomic Evaluation Following a Perinatal Demise
Get PDFDespite 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
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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