GENETIC COUNSELING PROGRAM

Abstracts:

While amended carrier screening reports are not currently commonplace, they will soon become necessary to keep results accurate in light of our evolving understanding of genetic contribution to disease. This is a direct result of embracing sequencing-based technologies for carrier screening, as opposed to traditional carrier screening, which relied on genotyping. Nevertheless, at this time, there are no formal guidelines that specifically address amended carrier screening reports.

This study aims to explore attitudes, opinions, and current standard practices of prenatal clinical and laboratory/industry genetic counselors surrounding the inevitable advent of amended carrier screening reports. Given the differences in their roles and responsibilities, both groups of genetic counselors were recruited to ensure we captured diverse perspectives regarding the various nuances and barriers associated with releasing and managing amended carrier screening reports (ACSRs).

Comparative analysis of 109 responses from genetic counselors practicing in the United States and Canada was performed. There is consensus among prenatal clinical and laboratory/industry genetic counselors (GCs) that amended carrier screening reports should be generated and that it is the best form of patient care. However, there is a difference in opinion among some of the specifics regarding workflow, such as who the reports should be sent to if the ordering provider is no longer available, who is responsible for recontacting patients, and how patients should be informed of variant upgrades and/or downgrades.

Information from this study provides insight into current practices and opinions of prenatal clinical and laboratory/industry GCs regarding amended carrier screening reports and suggests a need for guidelines to decrease inconsistent practices.

Abstract:

On June 24, 2022, the United States (U.S.) Supreme Court ruled in Dobbs v. Jackson Women’s Health that the Constitution does not grant the right to abortion. This ruling and the resulting increase in abortion restrictions have the potential to have a profound impact on not only genetic counseling students’ and recently graduated genetic counselors’ perspectives on abortion, but also the nature in which they are trained and the way in which they counsel patients. This study aims to further our understanding of the impacts of the Dobbs decision on where the next generation of genetic counselors plans to practice, what they plan to specialize in, their primary concerns for the future of abortion access, and how they view reproductive justice advocacy in relation to the field of genetic counseling. Due to the lack of published literature seeking the opinions of current and recently graduated genetic counseling students, a nation-wide survey was distributed to all U.S. Genetic Counseling Program Directors to collect data from this population. A total of 152 responses were analyzed using a cross-sectional mixed-methods approach. The abortion policies of each state following the Dobbs decision were divided into three categories based on restrictiveness for analysis: supportive, some restrictions/protections, and restrictive. The abortion attitudes of each participant were also scored using a scale created from the survey items, with scores ranging from least supportive (3) to most supportive (15) of abortion rights. Participants scored high on this scale, revealing attitudes very supportive of abortion rights, consistent with previously published studies on genetic counselors’ abortion perspectives (Woltanski et al., 2008; Jayaraman et al., 2021; Cooney et al., 2017). Participants also reported a desire not to practice in restrictive states, a hesitancy to pursue careers in the prenatal specialty, and deep concerns about the consequences of restricted abortion access on patients, genetic counseling education, and how providers counsel patients on the option of abortion.

Abstract:

Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a rare genetic disorder that can leave patients, families, and caregivers feeling isolated and lacking in support. The scarcity of published literature and evidence-based practices, along with ethical issues, has made it difficult for individuals with SPLIS and caretakers to find the resources they need to manage the disease effectively. To address these challenges, my capstone project outlines the creation of a tool, the SPLIS home(page), which serves as an online hub for education, resources, and community support. We began with outreach, short surveys, and stakeholder interviews to understand the needs of the SPLIS community. Patient support, building a community, and medical guidelines were the most desired components and structured the development of the SPLIS tool. The goal of this tool was to create a supportive community and network that positively impacts SPLIS patients and caregivers. The tool provides reliable and accurate information and a range of medical resources that enhances the quality of life and patient journey for those living with SPLIS. The SPLIS home(page) enables healthcare professionals to be better equipped in providing care and treatment to patients living with SPLIS. The project is the first of its kind to understand the perspectives of SPLIS stakeholders and first online support resource.

This capstone is the vital step forward in improving the management and treatment of SPLIS patients globally and creating a home(page) that is rooted in humility, connectivity, and empowerment, catering directly to the needs of the SPLIS community. It emphasizes the need for dynamic individuals to take on the lead to push forward the mission and goals of this group. It is also a call to action for rare disease organizations that may be open to collaboration as the budding SPLIS community builds upon these initial efforts.

Abstract:

Purpose: This project aimed to compare and contrast delivery models for germline genetic testing within the Veterans’ Affairs (VA) health system to identify best practices for providing this testing in an oncology setting.

Methods: We conducted semi-structured interviews of patients who had obtained germline genetic testing following a metastatic prostate cancer diagnosis across three testing delivery models available at VA facilities. The traditional model relies on genetics providers to perform all pre- and post-test activities, the hybrid model relies on oncologists to obtain informed consent and genetics services for test ordering (with result disclosure via letter). The mainstream model relies on oncologists for all pre- and post-test services. We used the Consolidated Framework for Implementation Research to inform data collection and analysis. Our patient sample was stratified by testing model and randomized for outreach. A rapid analysis method was used for analysis of interview transcripts.

Results: We interviewed 12 traditional, 10 hybrid and 9 mainstream model patients. Mean age was 71.23 years (SD=5.81). Participants were primarily White (61.3%) and Black (29.0%), with no demographic differences across the models. Traditional model patients had greater recall of process and communication surrounding genetic testing. Half of mainstream patients could not recall receiving test results. Patients across all three models expressed trust in their providers, and very few recalled discussing harms or limitations of testing. Family and social utility (perceived utility of genetic test results to family members and others, respectively) were more prevalent sentiments across all three models in comparison to clinical utility (changes to treatment) which was most prevalent in the hybrid model.

Conclusion: Referral to genetics providers may have contributed to better recall among traditional-model patients. Differences in recalling testing purpose and limitations between hybrid and mainstream model patients may be explained by use of written communication by the hybrid model.

Abstract:

The utility and benefits of genetic testing and diagnosis are evident to clinicians and researchers in the field of neurology and adult genetics, yet the lack of studies into the use of genomic technologies in adults has led to little change in improving access and coverage policies. This is particularly true for adults with brain disorders (BD) and is the patient population examined in this study. This study aimed to examine insurance coverage decisions for genetic testing by public and private payors in this population, as well as the impact of a genetic diagnosis to patient's clinical management. By analyzing current insurance coverage for clinical testing in the population of interest, we sought to identify gaps in the precision medicine and genomic healthcare landscape. Utilizing electronic medical records and stringent inclusion/exclusion criteria, we collected information about coverage patterns for patients with BDs, as well as genetic testing outcomes for these patients. This study found public and private payors have differences in policy which influence the ability for the adult BD population to receive genetic testing. We also found that both patients who received insurance coverage (16%) and other patients who relied on an alternative funding mechanism (40%) (e.g., charity funds, self-pay), were both able to receive a diagnosis which impacted their clinical management. This study concluded that clinical management changes impacted all patients who received a diagnosis as well as a few patients whose testing helped rule out other conditions on their differential. This study also helped generate data on the efficacy of current coverage policies in enabling access to impactful genetic diagnosis in adults with BDs.

Abstract:

Background: Palliative care (PC) is underutilized in the Huntington’s Disease (HD) population. Multiple factors may explain this phenomenon, including knowledge, perceptions, and attitudes towards PC in the HD population. Early PC adoption is associated with decreased hospital spending, longer patient lifespan, and greater patient quality of life. (Temel, 2010). Since genetic counselors provide support to patients with HD and families, they have an opportunity to introduce palliative care in the care of patients with HD.

Objectives: Family caregivers of patients with HD were surveyed to examine their knowledge, perceptions, and attitudes towards PC and genetic counseling (GC) and whether they would be receptive to discussions about PC during GC sessions.

Methods: A cross-sectional one-time survey with open-ended and closed-ended question was used to collect data. Open-ended questions were coded for themes, and for accuracy.

Results: Family caregivers of patients with HD have an overall positive attitude towards PC (PCAS-14: 36.44, SD: 5.41). Almost 28% of survey responses contained inaccurate statements about PC. One-fifth (N=15/72) of respondents identified 2 or more facets of PC and had accurate perceptions about PC. Twenty-five percent of respondents had a common misperception, which was that PC is solely about end-of-life care.

Family caregivers in the HDSA utilize GC when it is offered 85.2% of the time. PC is usually accessed by family caregivers in the late stage of the disease.

Most family caregivers of patients with HD had accurate knowledge about GC. Of those who had heard of GC, 52.8% of survey respondents listed at least one correct facet of GC, and 36.6% listed two or more facets of GC. Fewer respondents (9.9%) had misperceptions about GC.

When asked about whether or not PC should be spoken about in a GC session, family caregivers of individuals with HD gave mixed answers ( “Yes” (30.5%), “No” (35.4%), and “Maybe” (34.1%).

Conclusions: Family caregivers of patients with HD have more accurate knowledge on GC compared to the general population. (Pasca, 2021) As well, family caregivers of patients with HD are more knowledgeable about PC than the general public. (Shalev, 2018) However, many caregivers have misperceptions about PC. Educating providers and patients on PC is necessary to improve their knowledge and perceptions. Given that a third of survey respondents want to hear about PC in a GC session, GC was identified as a potential place to speak about PC with HD patients.

Abstract:

This study was a two-phase project, and part of the larger UCSF Program in Prenatal and Pediatric Genome Sequencing Study (P3EGS). The impetus for this research came from a desire to make the exome sequencing lab report more understandable. The first phase began with the development of two versions of a lab report guide to increase the value of the exome sequencing lab report. The second phase of the project consisted of semi-structured interviews with adult participants from the prenatal and pediatric arms of the P3EGS study. The goal of this study was to understand how the use of a lab report guide impacts understanding of an exome sequencing lab report, and provide insights for future iterations of a lab report guide as a supplementary resource. The results from this study demonstrate the possible utility of a lab report guide, particularly as it relates to improved understanding of the lab report, enhanced experience overall, and increased likelihood of sharing the lab report and guide with stakeholders including family and school districts. Based on the responses during the semi-structured interviews, participants generally felt positively about the lab report guides. Similar to (Stuckey et al. 2015a), this study found that participants liked the inclusion of diagrams, use of color, clear division of sections in the guides, and simplified explanations. All of these elements contributed to increased comprehension and reduced confusion. Based on the findings of the semi-structured interviews, recommendations for a new version of the lab report guide that incorporates participant feedback is described in the discussion section. Continued research to test and refine the revised lab report guide developed in this study or a redesign of the lab report itself will be important moving forward as genomic and genetic testing occur more frequently.

Abstract:

The Central Valley of California is a medically underserved region encompassing hundreds of miles between the metropolitan areas of the San Francisco Bay Area and the Greater Los Angeles Area. It consists of a high proportion of rural and agricultural communities and is home to a large Latinx population, many of whom have low health literacy, are Spanish speaking with limited English proficiency (LEP), and face barriers to genetic counseling (GC) services.

Conversations with local genetic counselors revealed a predominant patient need for awareness of GC and foundational genetics knowledge, particularly in the setting of prenatal GC. To our knowledge, there is no literature addressing prenatal GC needs for the Spanish-speaking LEP patient population in the Central Valley. Our study sought to characterize patient needs from a provider perspective and address them through the creation of a culturally appropriate Spanish- language video educational tool.

A needs assessment was distributed to staff at the Valley Children’s Healthcare (VCH) Maternal Fetal Center (MFC) main campus (n=17). This revealed patient needs like barriers to GC and myths and misperceptions about GC, such as patients will be pressured into genetic testing or an abortion procedure, no interpreter will be provided, religion, and stigma. Using this information, a narrative style and culturally appropriate video script was developed and translated into Mexican dialect Spanish. An animated video was created using culturally and regionally appropriate imaging and styling. Randomized patient interviews were conducted at the VCH MFC. Participants (n=3) watched the video tool and provided feedback. High patient satisfaction, content comprehension, and utility were reported indicating that the video educational tool is an effective patient resource. The video tool can be distributed to other Central Valley hospitals, community organizations, health centers and clinics to further promote awareness of GC among the Latinx community and decrease health disparities.

Abstract:

Whole exome and whole genome sequencing (WES/WGS) have historically been viewed as a last resort for genetic testing, especially for patients reaching genetics at the end of their diagnostic odysseys. As the utility of WES/WGS in shortening diagnostic odysseys is further explored, it is important to understand the impact these tests results have on patients, including the non-health outcomes of testing outside of its clinical utility, which is called personal utility. This pilot study explored the personal utility of WGS by administering two surveys developed to encompass areas of personal utility to a cohort of adult patients with complex brain disorders undergoing standard genetic testing and WGS. Surveys were implemented after participants completed standard genetic testing and before undergoing WGS, and after WGS to capture the change in elements of personal utility and expand on the application of previous research of personal utility in genomics. Scores of self- knowledge, curiosity, value of information, and coping, as well as negative emotions, privacy concerns, and uncertainty all decreased after WGS results were disclosed.

Between the different types of results, scores of the first four elements of personal utility decreased more after WGS for patients with a VUS compared to those with negative results. Much of the qualitative research that built the foundation of our understanding of personal utility interviewed patients and families with positive results, emphasizing the impact of a diagnosis on the elements of personal utility. This study provides a counterbalance, not only through a quantitative approach supporting the use of a similar survey, but also among a population of patients with uncertain and negative results where these results often negatively impact healthcare decision making. Ultimately, personal utility highlights important facets of the lived experience of genetic conditions that are integral when evaluating healthcare outcomes alongside clinical utility and other measures.

Abstract:

The University of California, San Francisco’s Center for Reproductive Health (UCSF CRH) offers fertility evaluation and treatment options to individuals in the greater Bay Area. As part of the fertility treatment process, expanded carrier screening (ECS) is typically used to identify whether or not future pregnancies are at an increased risk of having certain genetic conditions. As ECS is used more often and panels become larger, the risk of identifying results that have personal health implications (known as actionable results) for the patient increases. This quality improvement project aimed to build a database consisting of actionable results found via expanded carrier screening at the CRH, and to utilize this database to identify areas for improvement and avenues for future research. Utilizing the more basic, existing database as the backbone, a new database which includes information on demographics, actionable variants, referrals, follow-up, and fertility treatment decisions was constructed. In total, 121 patients who received ECS between May 2021 and October 2022 were found to have actionable results. Analysis of the data raised questions about the obligation ordering providers have to ensure patient follow-up is completed, as well as the informed consent process for expanded carrier screening. Additionally, many avenues for future research were opened up with the completion of this database, including opportunities for patient surveys and interviews, case studies, design and implementation of a new consent process, and additional database construction and updates.

Abstract:

As genetic testing methods for prenatal diagnosis continue to rapidly evolve, there is a greater possibility that families undergoing prenatal diagnosis may receive unexpected results. This study examines three clinical cases where families underwent prenatal diagnostic testing and ended up getting unexpected genetic test results that had impacts for both the pregnancy and the parents of the pregnancy. The study aims to take an in-depth look at the medical and psychosocial issues that can arise when these unexpected findings that impact parental health are discovered. Analysis of these cases show that there is a lack of consistency among topics covered in the prenatal testing consent discussion and that there is a need for clear recommendations to guide these discussions. Questionnaires from genetic counselors who saw these patients suggest that a broader discussion about unexpected results and giving concrete examples of result types during the pre-test counseling session can increase informed decision making amongst families considering prenatal diagnostic testing. Additionally, case review and analysis of the genetic counselor responses highlight the need for psychosocial counseling and referrals to other specialists when unexpected results arise. These findings were utilized to create concrete recommendations for genetic specialists who come across unexpected findings during prenatal diagnosis that have implications for parental health. We hope these recommendations can better prepare genetic counselors and any clinicians involved in this process to counsel patients on these results, and that this study highlights the need for more research on this topic.