In 2014, NCCN guidelines for ovarian cancer were updated to include genetic risk assessment for all women diagnosed with ovarian cancer, following the introduction of PARP inhibitors for targeted treatment*. Despite the advancements made in cancer genetics knowledge and the availability of cancer predisposition testing, little information has been gathered regarding the decision-making of providers in the referral process of their patients for cancer genetic risk evaluation.

We aimed to determine characteristics of the population of patients referred for genetics consultation upon receiving a diagnosis of ovarian cancer that distinguish them from those who are not referred. Data collected at the University of California, Irvine Medical Center covering a two-year time span following the NCCN update was analyzed. Our study found that women with ovarian cancer continue to be under-referred to cancer genetics; only 59% (95% CI 51-67%) of the study sample had documentation of referral following their diagnosis. This suggests a general unmet need to further educate providers on the importance of referral for genetics evaluation in the context of ovarian cancer. Of the four patient characteristics studied, ethnicity, insurance type and age at diagnosis were not found to be statistically significant potential predictors for genetics referral. Patients with “unknown” stage at diagnosis had a lower percent of documented referral than patients with known stage cancer. Further research is needed to identify why a significant proportion of women with ovarian cancer are not being referred for genetics evaluation.

*National Comprehensive Cancer Network 2014.

Individuals who identify as transgender and individuals who have been diagnosed with a disorder of sex development (DSD) likely have different challenges and experiences with the medical world. Both individuals with DSD as well as transgender individuals can be perceived as “gender non-conforming,” although their non-conformity would be attributed to differing etiologies. This study was designed to collect feedback from both of these groups in order to clarify similarities and differences with respect to satisfaction with healthcare, access to Medical Genetics and Genetic Counseling, diagnosis disclosure, and perceived stigma. By forming a better understanding of these two groups, we can begin to improve medical care and how they are perceived by healthcare professionals. With this aim, an anonymous survey was distributed online and responses from 104 eligible individuals analyzed.

Using the patient satisfaction questionnaire (PSQ-18), our study population reported lower general healthcare satisfaction than other previously-studied groups. Fewer than one-third of all participants with DSD reported having seen a medical geneticist or genetic counselor, even though a Medical Genetics evaluation is indicated in most, if not all, cases of DSD. Forty percent of all survey respondents reported that a healthcare practitioner had been unwilling or unable to treat them due to their gender or medical condition (eg: DSD). The results of this study indicate the need for further broad educational and sensitivity efforts in healthcare organizations. Additionally, further improvement efforts are needed in order to increase access to Medical Genetics and Genetic Counseling for individuals with DSD.

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a condition with heterogeneous clinical features characteristic of a connective tissue disorder (CTD) including generalized joint hypermobility, hyperextensible skin, joint subluxations/dislocations and commonly associated comorbidities such as postural orthostatic tachycardia syndrome and fatigue (Castori et al., 2017; Gensemer et al., 2021). hEDS is the only one among 13 Ehlers-Danlos syndrome (EDS) subtypes without a known etiology or targeted clinical molecular genetic testing, requiring strict clinical diagnostic guidelines and exclusion of other similar conditions (Malfait et al., 2017). Possibly due to the diverse clinical symptoms and the lack of molecular confirmation, hEDS referrals for evaluation for hEDS may be increasingly inundating and overwhelming genetics clinics. This study was a retrospective chart review that analyzed 143 referrals for suspected hEDS/CTD to the University of California, Irvine (UCI) adult genetics clinic and the referring providers’ relevant medical notes, if available. The purpose of this research was to understand why medical professionals refer patients with suspected hEDS/CTD for genetic evaluation and what they document in the referral. First, a classification scheme to identify appropriate referrals was developed using a consensus process. Utilizing a system with four categories of appropriateness, 51% (N=74) of referrals were found to lack enough details to be categorized as appropriate. Additionally, features recorded in the referral documentation were analyzed, and many features related to CTD aside from joint involvements either had not been assessed or were not documented. Many referrals (>75%) also did not document the presence or absence of certain CTD-related features including dislocations, subluxations, easy bruising, and elastic skin. Furthermore, the classification of appropriateness for the primary care referrals differed significantly from that for the referrals from specialist providers (χ2 (3) = 10.48, p=0.02). Referrals from primary care providers were more likely to be missing details (N=26, 47% compared to N=19, 22% for specialty referrals). The findings suggest that educational outreach to referring providers and implementing a referral protocol may help improve the quality of referrals and, ultimately, for genetics clinics to be able to provide optimal support to patients suspected with hEDS/CTD and the providers involved in their medical journeys.

Non-invasive prenatal screening (NIPT) is a screening tool that utilizes maternal and fetal cell-free DNA to revise one’s risk of having a child with an abnormal number of chromosomes, also known as aneuploidy. Most patients experience satisfaction in their understanding of NIPT but still may not fully grasp the limitations of screening. The purposes of this study were to (1) investigate which patient demographics were associated with better knowledge about NIPT and how women make decisions about NIPT, and (2) determine if patients’ knowledge about NIPT improved after meeting with a genetic counselor. Surveys that assessed knowledge and decision-making about NIPT were sent before and after a patient’s prenatal genetic counseling appointment. Thirty-four participants completed the pre-counseling survey, and 30 participants completed the post-counseling survey. While the sample size was too small to draw any conclusions about how specific demographics influence decision-making about NIPT, the study showed that the most common reason for choosing to have NIPT was the desire to know as much information as possible about the fetus without invasive testing. Patients who had previously spoken with a doctor about NIPT or were considering having NIPT prior to their appointments had better knowledge before (p=.042 and p=.022, respectively) and after (p=.037 and p=.036, respectively) their appointments. Topics with higher knowledge scores included the possibility of NIPT resulting normally even if a birth defect is identified on ultrasound. Topics with lower knowledge scores included the potential for NIPT to fail to return a result and the potential for NIPT to determine maternal health issues. The study showed that genetic counseling significantly increased patients’ knowledge of NIPT (p=<0.001) and identified areas of greatest improvement, particularly regarding the possibility for a no-call result. These findings highlight topics that counselors may wish to focus on when assessing patient awareness of NIPT and support the important role genetic counselors play in educating patients about their prenatal testing options.

The purpose of this study was to determine whether siblings of people with Down syndrome face courtesy stigma, a stigma acquired as a result of an association with a person from a stigmatized group. The central hypothesis was that the majority of people who have a sibling with Down syndrome face courtesy stigma during both adolescence and adulthood. The data supports this hypothesis, showing that 76% of respondents reported courtesy stigma as adolescents and 62% reported courtesy stigma as adults. The levels of courtesy stigma reported were higher in adolescence than adulthood. However, the overall levels of courtesy stigma reported by all respondents were low, and participants reported strongly positive relationships with their siblings with Down syndrome despite experiencing courtesy stigma. Other findings of this study include a positive correlation between aberrant behaviors on the part of the individual with Down syndrome and higher levels of courtesy stigma reported by their siblings and an increase in courtesy stigma when the sibling with Down syndrome also has a comorbid condition, such as autism or a lack of verbal communication skills. Due to a small participant population, this study was unable to establish whether the amount of courtesy stigma experienced by siblings of people with Down syndrome has changed together with our society's attitudes toward people with intellectual disabilities over the past several decades.

Patient-decision making plays a critical role in the hereditary cancer genetic testing process and creates an opportunity to experience decision regret. Motivations and feelings about genetic testing decisions are well-explored in the literature, but less is known about how patients feel about their decision to test after receiving results, particularly regarding regret.

We invited 1,596 English-speaking adults who had genetic counseling where testing was recommended for hereditary cancer risk at UCI Health (the clinical enterprise of the University of California, Irvine) between November 2014 and March 2023 and received 234 complete responses. Interestingly, when asked a yes/no question regarding test regret, 97% reported no regret, but on the validated Decision Regret Scale, 34% showed mild regret, and 7% had moderate to severe regret. Independently, those with biological children (p = 0.01), no personal history of cancer (p = 0.01), and some out-of-pocket cost (p = 0.001), commercial insurance (p = 0.01), and who were married or in a partnership (p <0.001) were less likely to have regret. Level of regret was also correlated with education - those who had at least an undergraduate degree or higher were less likely to have regret (p = 0.01). Importantly, education was our only variable that addressed socioeconomic status, so this may be a direct association, but other related variables may confound it. We assessed whether the level of regret differed between those who received a positive, negative, or uncertain test result. While those with positive test results appeared to have a higher regret rate, there were no statistically significant differences across the groups.

We explored whether current cancer diagnosis, genes associated with test results, if a change in medical care resulted, and various demographic factors were correlated with regret but did not find any significant associations.

Our data suggest that most individuals who choose to have genetic testing for hereditary cancer risk have little to no regret regarding their decision to test. Participants reported they lacked regret because genetic testing allowed them to learn of their cancer risk, make decisions about screening and management, and learn more information about their family members. Participants who reported regret said it was because they had to inform family members of their test results, had increased anxiety about developing cancer, and felt guilty that they may have passed something on to their children. Knowing that most patients do not have strong regret about genetic testing after learning their results, regardless of result type, allows genetic counselors to reassure their patients in their choices if they choose to proceed with genetic testing.

Genetic counseling chatbots have recently been developed, with several currently in use. This raises two important questions: if genetic counselors are interested in using chatbots in their practices, and what applications and information genetic counselors want included in these chatbots. To date, these questions have not been explored, and there has been no published research on genetic counselors’ opinions on the usage of chatbots. The aim of this thesis is to investigate the current perspectives of genetic counselors and genetic counseling graduate students regarding the use of chatbots in the genetic counseling field. A survey was developed to explore genetic counselors’ and genetic counseling graduate students’ familiarity with, usage of, and opinions regarding chatbots, both in general and specifically in the genetic counseling field. This includes their thoughts on what information genetic counseling chatbots should provide and potential barriers to their use. It was hypothesized that counselors and students who are younger, see a larger number of patients per week, use alternative counseling methods, and are already familiar with chatbots in general will be more interested in offering a genetic counseling chatbot. While overall, participants were only slightly interested in offering a chatbot to their patients, the variables that predicted greater interest were different than those hypothesized. The data showed that counselors who work in a laboratory or non-patient-facing setting and do not have administrative and/or support staff are more interested. In addition, both counselors and students who are familiar with genetic counseling chatbots and would consider using a chatbot for their personal health are more interested. Participants’ main concern was that counselors would be unable to assess whether patients understood the information included in the chatbot. While participants’ preferences for what is included in a genetic counseling chatbot is in line with what is currently being offered, the results of this thesis still offer some important insights into the future development and refinement of genetic counseling chatbots.

This study was designed to asses the Persian-American Jewish community’s perceptions of the risk of genetic disorders and their attitudes toward testing and to determine whether disinterest in carrier screening is due to lack of education and resources about the disorders or due to fear of disapproval from the community. By forming a better understanding of this population, community based screening programs can be implemented to serve this at-risk population. A short anonymous survey was distributed online. In total, 202 individuals responded to the survey.

The risk for genetic disorders was generally underestimated within the study population, with a low level of knowledge pertaining to disorders more prevalent in their community. Attitudes toward genetic testing and screening were positive, with individuals of higher education levels scoring higher. The majority of participants were willing to undergo genetic carrier screening and testing, regardless of their demographic background. Levels of genetic knowledge did not impact participants’ willingness to undergo genetic testing. There was a higher association of stigma with respect to carrier status and ability to find a marriage partner, with individuals aged 45 and older less likely to approve of a marriage between an unaffected carrier and their family member. The majority of individuals preferred genetic education from their doctor or through a community program. The results of this study demonstrate the need for educational programs to target the Persian Jewish community and the establishment of screening programs to address the population’s willingness to undergo genetic carrier screening and testing.

Family history is an important screening tool that can highlight features suggestive of a cancer predisposition syndrome (CPS). In collaboration with the McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) project through McGill University and the Genome 4 Kids (G4K) study through St. Jude Children’s Research Hospital, a retrospective analysis of an existing data set of pediatric oncology patients compared aspects of family cancer histories in participants with and without a CPS. MIPOGG is an app that generates a recommendation for or against a genetics referral based on the presence or absence of personal and family history features associated with a high risk for a CPS. Analysis of the features in MIPOGG indicated that personal history features alone were significantly associated with identifying a CPS in participants while family history features alone were not. Although the yield of identifying participants with a CPS using family history features was low, one participant with a CPS was only classified as high-risk for a CPS due to a family history feature. Factors such as a patient’s age and cancer type did not have any clear associations with the degree of relationship or ages of relatives with cancers in a family history. This study highlighted the importance of detailed characterization of personal history features and the low yield of family history as a screening tool for CPSs in the pediatric oncology setting. However, an important subset of pediatric oncology patients with a CPS will only have features concerning for a CPS in their family history; if only personal history features are evaluated, patients such as these may be missed as being at high risk for a CPS. Recognizing the power and limitations of family history as a screening tool for CPS identification can aid in the effectiveness of a healthcare provider’s risk assessment for a CPS at the time of a child’s cancer diagnosis.

The goal of this study is to explore factors associated with sexuality in children with Down Syndrome (DS), including demographic factors related to both parent and child (age, gender, ethnicity, etc.), child’s knowledge of and experiences with sexuality, and attitudes of the parents. The study further investigates factors that are associated with parental attitudes, indicated by willingness to permit the child to be alone with a romantic partner. The hypothesis tested is that the child’s age, gender, and developmental level, in addition to parental attitudes and concerns, are related to mothers’ willingness to allow the child to be alone with a partner. Data are analyzed using multivariate logistic regression. The results show that age and developmental level, but not gender, are statistically significantly associated with parental permissiveness. Additional factors impacting permissiveness include knowledge about sexuality, understanding of consent, and the specific source of sexual education. Understanding further the factors influencing and influenced by intimacy is vital in the effort to support autonomy for individuals with DS. Gaining insight into—and assessing the interplay of—these variables has the potential to influence advocacy for sexual independence among individuals with DS. This is the first study of its kind to look at sexuality in a broad age group and with a fine level of detail. We aspire to add to the currently limited depth of knowledge regarding this topic with hope that the results from this study may potentially lead to greater awareness of the importance of sexuality for individuals with DS.