Research
Developing a deep understanding of the research process is critical in the rapidly changing fields of genetic counseling and medical genetics. At UCSF, Genetic Counseling students undertake a capstone research project consistent with their own interest. Along the way, they acquire skills to formulate a research question, design and conduct research studies, critically evaluate scientific literature, and learn to disseminate their findings. Research questions may be clinically or laboratory based, quantitative or qualitative, a clinical application, or provide other scholarly contribution that advances the field of genetic counseling.
Students are supported in this process through two Research Methods courses, a research project mentor and the GC Program’s Research Director. The research experience culminates in the presentation of a final capstone presentation at the end of the second year. Submission of research results appropriate for publication to a peer-reviewed journal and/or presentation at national academic meeting is strongly encouraged for each student.
As an elite research institution, UCSF offers a broad spectrum of research opportunities that support the development of genetic counseling scholars and the advancement of the field of genetic counseling.
UCSF Student Capstone Projects
Class of 2025
Sofia Dallards
Advisors: Michelle Hearn, MS CGC; Vinya Murthy, PhD MPH, LCGC
Investigating the Resource Needs and Barriers for Bilingual/Multilingual Genetic Counseling Students
Abstract:
Patients who experience language barriers with their healthcare providers tend to not fully understand their diagnoses, may not adhere to medication instructions, and have an increased risk for serious medical events. Current research on language access in genetic counseling highlights a need for expanded delivery of non-English genetic counseling services. This study aimed to characterize the main barriers, challenges, and resource needs of bilingual/multilingual genetic counseling (GC) students and recent graduates seeking to provide GC services in non-English languages. Descriptive analyses of responses from a quantitative survey of current genetic counseling trainees and recent graduates provided insight into barriers and challenges at the training level. This study also explored the perspectives of GC program leadership on multilingual/bilingual training support. The most significant challenge to counseling in non-English languages identified by study participants was “counselor limited medical and genetics vocabulary in the other language(s)”. The students/graduates and program leadership diverged on the most critical barrier as the students/graduates identified “needing to learn medical terminology” as the most significant barrier, while program leaders selected “lack of training opportunities to learn with bilingual/multilingual genetic counselors”. These findings offer insight into how GC training programs may provide targeted support to empower their bilingual/multilingual students to practice in their non-English language(s), thereby promoting a language-diverse future workforce.
Noah Ben-Chaim Greco
Advisor: David Blair, MD
Algorithms and Aortas: Exploring the clinical utility of electronic health data for identifying Marfan Syndrome cases prior to sentinel disease events
Abstract:
Introduction: Early and/or preventative diagnosis of Marfan syndrome (MFS) is essential to prevent life-threatening complications such as aortic dissections, aneurysms, and ectopia lentis. However, many individuals carrying pathogenic variants in FBN1 remain undiagnosed until after sentinel events occur. As genetic testing becomes more widely available, there is growing interest in using electronic health record (EHR) data to identify at-risk individuals earlier. We aimed to evaluate the diagnostic trajectories of FBN1 variant carriers in a population biobank and assess whether EHR-derived symptom and family history data could enable earlier recognition. Methods: We analyzed 245,376 genomes and linked EHR from the NIH All of Us Research Program. 50 individuals carried presumably pathogenic variants in FBN1. A custom MFS phenotype ontology was developed by mapping over 1,700 EHR-derived diagnostic codes to 365 MFS-related symptoms, specifically identifying those carrying a high risk for permanent disability or mortality (sentinel events). Using this ontology, we systematically measured MFS symptom expression and family history information among the FBN1 carriers available in All of Us. We used these measurements to compute Phenotypic Risk (PheRS) and Family History Risk Scores (FHxRS), using precision-recall analyses to evaluate the predictive performance of these measurements in distinguishing carriers from a control group of non-carriers (N = 196,856). Results: FBN1 carriers exhibited significantly more MFS-related symptoms than non-carriers (mean 18.90 vs. 5.95, p < 0.0001), and symptoms began at earlier ages (mean onset 41.66 vs. 48.87 years, p = 0.0047). Sentinel events were observed in nearly half of carriers, with a mean age of onset of 44.5 years, over a decade earlier than non-carriers (p < 0.0001). Critically, fewer than half of FBN1 carriers had a documented MFS diagnosis in their EHR, and over half of those were diagnosed only after or concurrently with a sentinel event. PheRS and FHxRS were significantly elevated among carriers (p < 0.001 for both) but failed to perform well as predictive tools. Precision-recall analysis revealed a combined model AUC of 0.01, with a false discovery rate exceeding 83% at only 1% recall. Discussion: Our findings highlight systemic delays in MFS diagnosis and demonstrate that EHR-derived symptom and family history data alone are insufficient for early population-scale identification. EHR-based symptom and family history burden, while statistically increased among FBN1 carriers, lacked sufficient predictive accuracy for broad screening utility. These results suggest a need to reconsider testing guidelines for autosomal dominant conditions like MFS. In particular, expanding access to genetic testing based on cumulative subclinical risk, rather than strict adherence to classical phenotype thresholds, may enable earlier diagnosis and improved prevention in MFS. However, the field of clinical genetics will likely need to tolerate many negative results given the low specificity of sub-clinical findings.
Sabrina Kabra
Advisors: Niharika Dixit, MD; Barry Tong, MS CGC
Creation of an improved educational video using patient perspectives of the Cancer Genetic Testing Station at ZSFG
Abstract:
Background. As the demand for genetic services continues to increase, many genetics clinics are turning to alternative service delivery models that supplement the traditional genetic counseling model. One such model is the Genetic Testing Station, or the GTS, which employs a genetic counseling assistant and an educational video to assist consenting affected patients for cancer genetic testing. Methods. Fifteen qualitative semi-structured debriefing interviews, a focus group with five oncology providers, and a focus group with two genetic counselors were conducted to explore English, Spanish, and Cantonese-speaking cancer patients’, as well as medical providers’ understanding and perceptions of the purpose and utility of the Genetic Testing Station at ZSFG. This feedback was then used to create an updated educational video that is also adapted to the new GTS workflow at ZSFG. Results. Seven specific themes were identified from the qualitative analysis; (1) the GTS is fast and makes sample collection easy; (2) telehealth is an acceptable mode to receive results; (3) knowing their family’s risk is a priority for patients; (4) patients need reinforcement of genetic test results by their oncologist; (5) confusion over the utility of genetic tests; (6) the video was not memorable to patients; and (7) suggestions to improve the video. Conclusions. Data from the interviews provided insight on how the video could be easier to understand and more memorable for patients, as well as the accessibility and efficiency of the GTS. These themes informed a new educational video tailored to the updated workflow, while illustrating and highlighting the most important details to consider about genetic testing. This video can be used at the oncology clinics at ZSFG to help educate and consent patients for cancer genetic testing.
Maggy Kepler
Advisors: Hannah Llorin, MS CGC; Julie Harris-Wai, PhD
Exploring providers' perspectives on the transfer of XXX, XXY, and XYY Embryos Following Preimplantation Genetic Testing
Abstract:
Preimplantation genetic testing for aneuploidy (PGT-A) is increasingly utilized as a part of in-vitro fertilization (IVF) treatments to aid patients and clinics in selecting embryos with the greatest likelihood of pregnancy. Ethically, emotionally, and medically complex decisions may need to be made when PGT-A results indicate an abnormal finding. Research and guidelines have not explored specific decision making or recommendations for the transfer of embryos with sex chromosome aneuploidies (SCAs). This study investigated genetic counselors’ (GCs’) perspectives on and experiences with counseling on the transfer of XXX, XXY, and XYY embryos with SCAs, as well as explored the ethical considerations involved. A survey with both closed- and open-ended questions was distributed to practicing GCs in the United States. A total of 140 survey responses were collected, 111 of which yielded free- response data for hypothetical case scenarios. Quantitative and qualitative analyses were performed to evaluate trends in responses and determine underlying themes. Results demonstrated that GCs were overwhelmingly in support of patients having the option to transfer XXX, XXY, and/or XYY embryos following facilitation of informed consent, preferably by a GC. Participants cited risk for miscarriage, perceived severity of associated phenotypic features, and prevalence as factors that influenced their perspectives. Many respondents signified that upholding reproductive autonomy was a primary motivation for supporting a patient in their decision to transfer an embryo. Counselors expressed ethical concerns with the refusal to transfer embryos with SCAs, as well as ethical discomfort with non- medical sex selection. This study contributes to the evolving landscape of ethical discussions regarding embryo testing and transferring practices within reproductive medicine. The findings emphasize the importance of informed consent and upholding patient reproductive autonomy in fertility care, and indicate a desire amongst GCs for professional organizations in reproductive medicine to provide guidelines or recommendations addressing the transfer of embryos with SCAs.
Kelly Landucci
Advisor: Rebecca Freeman, MS CGC
Developing a culturally attuned genetic counseling resource in collaboration with Arabic-speaking communities
Abstract:
Genetic counseling services are crucial for the healthcare journey of many individuals, whether through a cancer diagnosis, pregnancy, or identifying underlying genetic conditions within a child or adult. This complex process may be more difficult if a language interpreter is required for the client, or patient, and the genetic counselor to communicate with one another. To combat this issue, language resources translated into the desired language may be appropriate to ensure understanding. Arabic is a commonly spoken language around the world but is lacking resources in the healthcare field. Conversations with local genetic counselors revealed the lack of language resources currently available in Arabic. Our study aimed to work with Arabic-speaking genetic counselors and individuals attending genetic counseling sessions to create a culturally appropriate Arabic-language written education resource.
Lauren L'Heureux
Advisor: Joyce So, MD PhD
Patient perspectives on telehealth across a spectrum of genetics specialties
Abstract:
After the Covid-19 pandemic, many healthcare clinics incorporated or increased video visits in order to assess patients despite pandemic-related limitations on in-person encounters. Since then, video visits have become more integrated into the standard of care in many environments, including in genetics clinics. University of California, San Francisco (UCSF) genetics clinics have now utilized video visits, as well as in-person appointments to see their patients for several years. We conducted a quality improvement project to better understand patient preferences and perspectives on in-person vs video visits for completed new patient appointments and upcoming follow-up appointments at various UCSF genetics clinics. This study also explored the similarities, differences and nuances in patient preferences between the different genetics clinics. Participants in the study were patients who had been seen for new patient genetics appointments in one of the following specialties: adult genetics, pediatric genetics, cancer genetics, or prenatal genetics. We received responses from 370 patients across all clinics. The results showed that the majority of patients did prefer video appointments, but 3 out of the 5 genetics specialties offered less in-person appointments than was preferred by their patients. Patients cited many different reasons as to why they might prefer video over in-person, and vice versa, including personal comfort/convenience, access to childcare/time off work, ability to communicate clearly, and the need for physical exams. Patient preferences were also found to be significantly different between the various genetics specialties (P-value = 2.022e-07). The results of this study can help the different genetics clinics understand the preferences of their specific patient populations and plan future clinic modalities with these perspectives in mind.
Sophia Sussman
Advisor: Joyce So, MD PhD
The Genetic testing USAGE Study
Abstract:
As advancements in genetic and genomic medicine continue to accelerate, the demand for specialized adult genetics clinics is increasing. This is driven by an increasing need for diagnostic evaluations of adult-onset genetic conditions, predictive testing based on family history, transition from pediatric to adult care, and family planning considerations. Despite these developments, research on the utility of genetic testing has predominantly focused on pediatric populations, resulting in a lack of evidence for adult patients. This gap contributes to disparities in insurance coverage for genetic testing on adults compared to children. This study aims to evaluate the clinical and personal utility of genetic testing among adult patients to inform care strategies and advocate for more equitable insurance coverage grounded in comprehensive utility measures. Participants were recruited from individuals who completed genetic evaluations at the Adult Genetics and Preventive Genomics Clinic at the University of California, San Francisco, between January 2022 and December 2024. Demographic and diagnostic data were extracted from electronic medical records, and participants completed an online survey adapted from validated instruments. Descriptive statistics were used to summarize demographic and clinical characteristics, and comparative analyses were conducted to examine differences in utility outcomes. Statistical significance was set at p<0.05. Among the 182 participants, 38% (N=69) received a genetic diagnosis, while 58% (N=105) did not. An additional 4% (N=8) received only pharmacogenomic or carrier screening results, which were not classified as diagnostic for the purposes of this study. Participants who received a genetic diagnosis reported significantly higher clinical utility scores than those without a diagnosis. Wilcoxon rank-sum tests indicated that all three domains of clinical utility–diagnostic thinking, therapeutic efficacy, and patient outcomes–were significantly associated with diagnostic status. Although diagnosed participants also reported higher average personal utility scores, this difference did not reach statistical significance. However, within the personal utility domains, the self-knowledge domain was significantly associated with diagnostic status, whereas reproductive planning and practical benefits were not. A significant positive correlation was observed between clinical and personal utility scores. These findings underscore the multidimensional impact of genetic testing in adult patients. While clinical utility was more consistently associated with receiving a diagnosis, personal utility appeared to vary based on individual experiences and values, indicating that the impact of genetic testing is shaped more by personal context than diagnostic outcome. The observed correlation emphasizes the importance of evaluating both dimensions when assessing the overall value of genetic testing. This study contributes to the limited literature focused on adult populations and provides essential insights to support patient-centered genetic care. This research also offers evidence to inform policy discussions on the accessibility and coverage of genetic testing, reinforcing the importance of comprehensive utility assessments in the evolving landscape of genomic medicine.
Paloma Nakamura
Advisors: Galen Joseph, PhD; Leslie Riddle, MPH; Julie Harris-Wai, PhD
Implications of the Dobbs decision on the documentation practices or prenatal genetic counselors
Abstract:
The 2022 Supreme Court decision in Dobbs v. Jackson Women’s Health Organization overturned the constitutional right to an abortion; consequentially, several states enacted near or near-total abortion bans. This patchwork reproductive landscape complicates the practice of prenatal genetic counselors (GCs), who discuss and coordinate abortion care for pregnant patients with ultrasound and/or genetic findings. Following Dobbs, there have been recommendations to adjust documentation surrounding abortion to protect patients and providers, but there is a lack of published literature assessing how prenatal GCs are changing practices. This study aimed to further our understanding of the impact of Dobbs on prenatal GCs’ practice and electronic health record (EHR) documentation surrounding abortion across different policy environments. We hypothesized that prenatal GCs working in restrictive states would report more changes to documentation practices than protective state GCs. We developed a cross-sectional survey with both open and closed-ended questions based on themes identified in a previous qualitative study conducted by our study team. The survey was distributed via the American Board of Genetic Counseling and the National Society of Genetic Counselors. Responses from 182 prenatal GCs were analyzed. Using the Guttmacher Institute’s categorizations, which assess the degree to which each state restricts or protects abortion care, respondents were sorted into three groups (protective, restrictive, and mixed legislation). Compared to protective states, GCs in restrictive states had 14.4 times higher odds of reporting that abortion restrictions affected their counseling, and 5.7 times higher odds of reporting that abortion restrictions impacted their documentation surrounding abortion. Reported adjustments included minimized documentation of abortion-related information in the EHR, use of code words to avoid explicitly mentioning abortion, and increased reliance on verbal communication. Respondents reported inconsistent institutional guidance on documentation and challenges navigating different abortion policy environments. Together, these findings highlight the growing differences in genetic counseling practice based on abortion policy environment. Post-Roe, restrictions have intensified; subsequently, there is need for careful consideration of documentation surrounding abortion by prenatal GCs, which may be underrecognized by those in protective states.
Maggy Osha
Advisors: Maren Scheuner, MD MPH; Paloma Sales, PhD
A survey to assess VA provider genetic utilization as compared to four years ago
Abstract:
Genetic testing (including germline and tumor cancer tests, pharmacogenomic tests, and exome tests) in the Veterans Health Administration (VA) is an important part of health care provided for many Veterans. Since patients stand to benefit from this testing, it is important to understand the rates of utilization by various clinicians. Past research, including a 2020 survey of VA clinicians, has found that many do not feel prepared to use genetics in their practice and that most had not ordered genetic tests or made referrals to genetics in the past year. Since 2021, many strategies have been implemented in the VA with a goal to improve guideline-concordant utilization of genetic services by oncology clinicians. This capstone project aimed to understand the current state of genetic services utilization by VA clinicians including characteristics associated with genetic test ordering and requesting genetics referral, as well as changes since the VA implemented strategies to improve genetic testing uptake. Data were collected via survey of clinicians at the same VA facilities as the 2020 survey. Outcomes of interest were ordering genetic tests or making a referral to genetics. Covariates included clinician demographics and specialty, as well as responses to other questions about preparedness and knowledge. Analyses were done using logistic regression models and descriptive statistics. Findings indicate among 592 survey respondents, 39.5% ordered at least one genetic test in the past year and 40.8% made a referral to genetics in the past year. Genetic test ordering (13% of 2020 respondents), and particularly pharmacogenomic testing increased significantly for all specialty areas. The potential reasons for this increase as well as associated covariates are discussed in this study.
Ana Shaugnessy
Advisor: Lynsey Rodriguez, MS LCGC
Creation and implementation of a Spanish-language whole genome sequencing video consent tool
Abstract:
Background. Over 13% of patients seeking genetic testing in the United States are Spanish- speaking, and at Valley Children’s Hospital that number ranges between 35-57% (Biel, 2022). The Spanish-speaking population faces additional barriers to healthcare, and studies have shown that receiving language concordant care can improve outcomes and increase uptake of genetic testing. As Whole Genome Sequencing (WGS) is utilized more frequently in clinic, providers have struggled to consistently and adequately consent patients on the implications that come along with such a complex test. Objectives. The study team aimed to address these gaps in access to language concordant care by creating an educational Spanish video tool that can consent patients in the pediatric setting for WGS. The tool was designed utilizing the feedback from providers (n=47) at Valley Children’s Hospital, measured through an initial needs assessment survey. The tool was then sent out to providers with a final survey to allow for modifications. Results. Survey results demonstrated a 60% increase in provider satisfaction following the development of the tool, with 91% of providers reporting that they would describe the WGS consent process as consistent if they were able to utilize the tool in clinic. 100% of respondents reported that the video tool would improve the consent process for WGS, and 91% of respondents reported that they would save between 5 and 15 minutes of appointment time with each patient visit if they used the video. Conclusion. The consenting process for WGS is involved and complex for everyone, especially Spanish-speaking patients. This study demonstrated the utility of a Spanish-language video tool to consent patients for WGS by increasing provider satisfaction, saving time for providers, and providing consistent and equitable healthcare for a historically underserved population. This video tool can serve as a foundation for future patient resources in both the genetics space and greater medical field.
Emma Sherman
Advisors: Aimiel Casillan, MS LSGC; Jason Carmichael, MS, LCGC
Assessing patient perspectives and knowledge of pharmacogenomics before and after receiving educational materials
Abstract:
The Genetic Medicine and Metabolism clinic at Valley Children’s Healthcare is increasing the simultaneous consenting of patients to pharmacogenomic testing on an opt-in basis when ordering whole genome sequencing. Despite the incorporation of PGx testing into the standard-of-care at VCH, there is a significant deficit in the PGx testing resources available to English and Spanish-speaking patients and their families. This study aims to provide preliminary data on the evolution of perspectives and knowledge VCH patients have regarding PGx testing prior to and following review of educational material in the form of an infographic. Prior to receiving the educational material, the participants would be administered the Minnesota Assessment of Pharmacogenomic Literacy (MAPL) survey and would fill it out once again following the review of the infographic. Six optional free-response questions were included as part of the post-test to elicit participant’s overall impressions of the educational material. There was a statistically significant difference in the mean MAPL score prior to (mean = 9.4) the educational intervention and succeeding (mean = 10.2) the infographic (p =.02412), demonstrating the efficacy of educational material that is sensitive to the sociocultural needs of Valley Children’s Hospital patients and families. Additionally, thematic content analysis of four discrete themes were established regarding participant’s opinions on the education material presented: 1.) Improvements, 2.) Coordination of written, visual, and auditory information, 3.) Accessibility of information, and 4.) Desire for testing. This study does not support the prediction of PGx perspectives and knowledge based on demographic factors such as education level and annual household income. Overall, this study supports the intentional development and employment of educational PGx testing material that is socio-culturally sensitive of the VCH patient population.
Jean Miriam Yasis
Advisors: Yu An, MS CGC; CeeCee Fairley, MS CGC; Bob Wallerstein, MD
Clinic Optimization and QI: A Patient-Centered Approach for Autism-Related Indications
Abstract:
The UCSF Genetics in Autism Program (GAP) was implemented to address needs surrounding high patient demand and factors that contribute to patient/family experiences. GAP employs two different clinic structures: traditional joint collaborative clinic of Medical Geneticist (MG) and genetic counselor (MG-GC) and genetic counselor (GC) only. For GC only visits, GCs independently lead the visit with MG consultation, as-needed. We used an observational design to examine the GAP clinic structures and how these impacted patient test completion rate and diagnostic yield. Study participants included UCSF GAP patients evaluated 7/13/2022 to 7/1/2024. The primary diagnostic testing options for ASD (chromosomal microarray, FMR1 CGG repeat testing, and whole exome sequencing) were ordered through GeneDx, a CLIA-certified genetic testing company. Descriptive and inferential statistics were utilized to examine whether individuals attending GC only visits versus the traditional MG-GC model would have higher or comparable clinical efficiency, and any differences in access. Of 268 patients, 205 (76%) patients were scheduled as GC only versus 63 (24%) in an MG-GC clinic visit. Our data revealed that GC only visits were scheduled within 97 days (median: 73 days) compared to 94 days for MG-GC visits (median: 86 days) on average. Of these 268 patients, 197 consented to testing and of these 140 patients completed testing, with GC only test completion rate of 69% and MG-GC test completion rate of 75%. There were no statistically significant differences between the two clinic models’ wait times and test completion. Our findings suggest that by offering this unique care model utilizing a GC-based evaluation for ASD clinical genetics appointments, departmental resources could be allocated more appropriately, access could be optimized, and efficiency could potentially be streamlined. These insights draw attention to potential areas of improvement for both clinic structures, including increasing clinical efficiency without compromising quality care and improving access.