Transgender and gender diverse individuals' perspectives on discussions of fetal sex chromosomes in obstetrics care.

In the past decade, prenatal cell-free DNA screening (cfDNA) has become ubiquitous as a screening tool for fetal aneuploidy and sex chromosomes. Healthcare provider (HCP) discussions and public perceptions of sex and gender uniquely impact transgender and gender diverse (TGD) individuals, and existing cfDNA guidelines lack recommendations regarding how to discuss sex and gender prenatally. The aim of this exploratory qualitative study was to examine TGD individuals' opinions regarding fetal sex chromosome disclosure sessions. Twelve semi-structured virtual interviews were conducted with TGD individuals regarding their perspectives on the discussion of fetal sex chromosomes by HCPs within the prenatal setting. Interviews were coded and analyzed using a reflexive thematic approach, generating four major themes: (1) Current practices in prenatal care exclude gender diverse people; (2) HCPs' responsibility to de-gender discussions of sex chromosomes in prenatal care; (3) HCPs' responsibility to acknowledge gender diversity; and (4) HCPs' influence on societal perceptions of sex and gender. More guidance is needed from professional societies regarding best practices for HCP discussions of sex chromosomes, sex, and gender. Participants recommended HCPs educate patients about sex chromosomes and their relevance to health while avoiding the conflation of sex and gender terms. Additionally, there is an acute need for trans-inclusive prenatal healthcare. Ultimately, HCPs' and organizations are in a prime position to deconstruct rigid gender binaries and promote societal inclusion of TGD people.

The experiences and support needs of applicants who go unmatched to genetic counseling graduate programs: An exploratory qualitative study.

As interest in the profession of genetic counseling continues to grow, the number of applications received by accredited genetic counseling graduate programs far outweighs the number of available training positions. In the 2023 application cycle, 46% of applicants who participated in the genetic counseling match went unmatched. There is limited research surrounding the experiences of unmatched candidates. The aims of this qualitative study were to highlight the experience of not matching and reapplying and to identify support resources for the genetic counseling admissions process. We conducted 15 semi-structured interviews with individuals who had previously applied to genetic counseling graduate programs, not matched, and were in the process of reapplying. Through reflexive thematic analysis, five major themes were conceptualized: (1) Emotional navigation through the stages of the match process; (2) external perceptions surrounding going unmatched and disclosure of results; (3) experiencing stagnancy throughout applying and reapplying; (4) advances in knowledge and personal growth; (5) areas for increased supports and resources. This study has shed light on emotional and practical challenges faced by individuals who did not match with genetic counseling graduate programs and chose to reapply. The participants' experiences highlighted the need for enhanced support, especially in terms of emotional assistance and program feedback. They also underscored the importance of standardization and transparency in the application process. This research offers valuable insights for genetic counseling programs and organizations seeking to enhance the reapplicant experience and address the evolving needs of prospective candidates in the genetic counseling profession.

BIPOC students' paths to genetic counseling: Results from a longitudinal qualitative study.

Despite diversity initiatives, the genetic counseling profession continues to exhibit limited racial and ethnic diversity, with relatively stagnant representation of Black, Indigenous, and People of Color (BIPOC) individuals. Prior research has found that BIPOC high school and college students are less likely to be aware of genetic counseling and learn about it later than their white peers. Financial barriers and familial discouragement based on a preference for medical school may disproportionately impact BIPOC applicants. Here, we report the first set of results from a longitudinal constructivist grounded theory study exploring the training experiences of BIPOC genetic counseling students. Through reflexive thematic analysis of semi-structured interviews conducted with 26 first-year BIPOC genetic counseling students, we identified five themes pertaining to participants' paths to enrolling in a genetic counseling program: (1) Deciding to pursue genetic counseling, (2) Family's reaction to genetic counseling, (3) Deciding where to submit applications, (4) Barriers during admissions, and (5) Ranking programs. Participants discovered genetic counseling later in their academic journey, often necessitating gap years to complete admissions requirements. Limited guidance from advisors was commonly cited as a barrier by first-generation college students. Family support seems to be a key factor in participants' successful pursuit of genetic counseling, but participants described challenges explaining the career, particularly to parents who did not speak English. In addition, some participants encountered resistance about changing prior plans to go to medical school. Finally, while participants prioritized cost and location in their initial decision about where to submit applications, their ranking of programs was heavily influenced by experiences during interviews, where they favored conversational interviews and evaluated if they would "fit in" at the program. These findings underscore the need for proactive measures, such as early exposure initiatives, mentorship programs, and resources to facilitate family support, to promote diversity in genetic counseling.

The impact of cohort relationships on BIPOC genetic counseling students: Results from a longitudinal qualitative study.

The transition to graduate school is marked by stress, with academic demands and interpersonal interactions being primary concerns for genetic counseling students. For Black, Indigenous, and People of Color (BIPOC) graduate students, additional stressors caused by the "minority tax" and microaggressions impact their sense of belonging and inclusion. This prospective longitudinal study employed a constructivist grounded theory approach to investigate the experiences of first-year BIPOC genetic counseling students as they transitioned into the first year of their graduate training. We conducted semi-structured interviews with 26 first-year genetic counseling students at three key time points during their first year and analyzed them using reflexive thematic analysis. Here, we report themes related to stressors when transitioning into the genetic counseling training environment, the role of relationships as a source of support in navigating these challenges, and the impact of cohort dynamics on the training experience. Stressors included managing academic rigor and time demands, navigating microaggressions, reactions to discussions about diversity, equity, inclusion, and justice (DEIJ), and managing mental health. Peer relationships emerge as pivotal source of support, but challenging dynamics within the cohort negatively impacted participants, highlighting the importance of fostering an inclusive training environment. Since programs have less control over the composition of each cohort with the advent of the Match system in 2018, we recommend the use of community-building and debriefing activities to strengthen healthy relationships and address problematic dynamics. We recommend that training programs be proactive in creating mentoring relationships between faculty and students rather than waiting until students ask for help. Ultimately, we advocate for a holistic approach to genetic counseling training that maintains academic rigor but also prioritizes the creation of supportive, inclusive, and culturally sensitive learning environments for all students.

Inconvenient sampling: Community-engaged and restorative justice approaches to genetic counseling student research.

Genetic counseling research requires a comprehensive approach since it frequently serves as the foundation for clinical care practice. Genetic counseling students play a pivotal role in advancing the profession, as they contribute a significant proportion of the research conducted within the genetic counseling community. However, a prevailing trend of convenience sampling of genetic counselors has limited the diversity of perspectives in student research projects. This article promotes a strategy for greater inclusivity and equity in research by emphasizing community-engaged and empowered research through the perspective of restorative justice. Reflecting on the shadow of the harmful ideologies of eugenics in our profession underscores the need to amplify patients' voices and diverse experiences. Community-engaged research-in collaboration with individuals, families, and communities directly impacted by genetic counseling-transcends traditional research paradigms, empowering patients and addressing systemic inequities. Incorporating community-engaged research into genetic counseling student projects aims to empower future professionals to better understand patient perspectives and needs while working toward addressing historical injustices. This article explores the potential benefits and pathways of incorporating community-engaged research and restorative justice principles into genetic counseling scholarly work, promoting empathy, cultural responsiveness, and ultimately, a more patient-centered approach to research and clinical care. By embracing this collective journey toward authentic partnership in the production of high-quality evidence in genetic counseling student research and more broadly, genetic counseling can become a more just and inclusive practice.

Enhancing intersex healthcare: A qualitative study of parental perspectives on the role of genetics.

Intersex individuals, encompassing people with diverse sex characteristics that do not fit binary frameworks of sex, have long faced a history of medical secrecy, discrimination, and societal stigma, contributing to their limited social visibility. In recent years, increased awareness of intersex issues and a robust advocacy movement have drawn significant attention to the experiences of intersex individuals and their families. This study contributes to the existing literature by examining the experiences and needs of parents of intersex individuals within genetic healthcare systems, bridging a critical gap, and advocating for more comprehensive and supportive healthcare practices. Semi-structured interviews were conducted with 14 parents of intersex individuals, and reflexive thematic analysis was used to inductively generate four major themes. Themes highlighted the need for improved accessibility of intersex healthcare, the importance of multidisciplinary healthcare teams, and the significance of clinical diagnosis provided by genetics professionals. Furthermore, the study highlighted the necessity of a thoughtful approach to information provision and the impact of genetic investigations on family dynamics. Genetics professionals can play a pivotal role in raising awareness about intersex variations, improving diagnostic processes, collaborating within healthcare teams, and providing specialized support to address psychosocial concerns. The study underscores the importance of treating families as a collective entity and addressing the impact of genetic investigations on the family unit. By addressing the challenges and implementing the recommendations outlined, healthcare institutions can create a more compassionate, inclusive, and effective healthcare environment for the intersex community.

Delivering Genetic Testing for Patients with Prostate Cancer: Moving Beyond Provider Knowledge as a Barrier to Care.

INTRODUCTION: The 2018 National Comprehensive Cancer Network guidelines for prostate cancer genetic testing expanded access to genetic services. Few studies have examined how this change has affected provider practice outside of large cancer centers. METHODS: We conducted a qualitative study of multi-disciplinary health care providers treating patients with prostate cancer at a safety-net hospital. Participants completed an interview that addressed knowledge, practices, and contextual factors related to providing genetic services to patients with prostate cancer. A thematic analysis using both inductive and deductive coding was undertaken. RESULTS: Seventeen providers completed interviews. Challenges in identifying eligible patients for genetic testing stemmed from a lack of a) systems that facilitate routine patient identification, and b) readily available family history data for eligibility determination. Providers identified non-medical patient characteristics that influenced their referral process, including health literacy, language, cultural beliefs, patient distress, and cost. Providers who see patients at different times along the cancer care continuum viewed benefits of testing differently. CONCLUSION: The use of digital technologies that systematically identify those eligible for genetic testing referrals may mitigate some but not all challenges identified in this study. Further research should determine how individual provider perceptions influence referral practices and patient access to genetics both within and across cancer specialties.

Toward depathologizing queerness: An analysis of queer oppression in clinical genetics.

Critically examining the way that the field of clinical genetics has impacted queer communities offers the field an opportunity to strengthen our commitment to inclusive high-quality care to all patients, families, and communities. This article reviews the origins of clinical genetics and genetic counseling in the eugenics movement and how this ontology promoted harmful medical practices grounded in assumptions of what is "normal." We critically examine existing clinical genetics practices and how commonly used binary frameworks for gender, sex, and sexuality perpetuate heteronormative, cisnormative, and bioessentialist assumptions. In order to move toward queer inclusivity, the genetic counseling field must first take accountability for past injustices. Restorative justice and trauma-informed approaches offer a way to engage with the queer community and to begin to rectify the history of medical harm. Through our analysis, we advocate for expanding efforts to depathologize queerness, promote bodily autonomy, and provide equitable healthcare for the queer community.

A qualitative study exploring LGBTQ genetic counseling students' relationships with peers and faculty in graduate school.

Lesbian, gay, bisexual, transgender, queer/questioning, and other sexual and gender minority (LGBTQ) students in healthcare professional programs face discrimination in their training, leading them to hide their identities and hindering their ability to form as meaningful connections with their classmates and faculty as non-LGBTQ students. To date, no studies have been published characterizing the LGBTQ student experience in genetic counseling programs. However, other historically oppressed groups such as Black, Indigenous, and people of color (BIPOC) genetic counseling students report feelings of isolation and negative impacts on mental health due to their racial or ethnic identity. This study explored how LGBTQ identity impacted relationships between genetic counseling students and their classmates and faculty in graduate school. In this qualitative study using constructivist grounded theory, 13 LGBTQ students and recent graduates of Canadian and American accredited genetic counseling programs were interviewed via videoconferencing. Participants reported determinants in self-disclosing their LGBTQ identity to their classmates and faculty and described ways in which their LGBTQ identity impacted relationships with individuals in their training programs. In particular, many described an overall heteronormative training environment, a hesitation to disclose their identity to faculty due to the professional nature of the relationship, and a sense of isolation. Participants also described the ways in which intersecting minoritized identities impacted their experiences as an LGBTQ student. This research contributes to the minimal literature about LGBTQ genetic counseling student experiences and has implications for addressing cisheteronormative curricula and attitudes in genetic counseling programs.

Experiences of genetic counseling students with disabilities and chronic illnesses: A qualitative study.

While many patients with disabilities or chronic illnesses are served by genetic counselors, little effort has been made to promote the inclusion of individuals with disabilities and chronic illnesses as professionals in the genetic counseling field. Genetic counselors with disabilities and chronic illnesses have reported insufficient support from their colleagues throughout all stages of their professional journeys, but there is a lack of research exploring these challenges. To gain an understanding of the experiences of this community during graduate training, we conducted semi-structured interviews with 13 recent graduates of genetic counseling programs who identify as having a disability or chronic illness. Questions explored various aspects of the graduate school experience including challenges, strengths, relationships, disclosure, and accommodations. Qualitative thematic analysis of interview transcripts resulted in six themes: (1) decisions around disclosure are complex, (2) interactions with others contribute to feeling misunderstood, (3) the high-performance culture in graduate programs makes it challenging to meet personal needs, (4) interpersonal relationships provide support, (5) the accommodation process is often disappointing, and (6) lived experiences are valuable to patients. This study reveals opportunities to better support genetic counseling students with disabilities and chronic illnesses through strengthening inclusion efforts, shifting away from ableist ideologies, and promoting more flexible training options.

A qualitative study of LGBTQIA+ genetic counselors' experiences while applying to graduate school.

Research has shown that lesbian, gay, bisexual, transgender, queer, intersex, asexual and other sexual and gender minority (LGBTQIA+) healthcare students experience discrimination during admissions and training. While several studies have examined the experiences of racial and ethnic minorities within the genetic counseling field, the admissions experiences of LGBTQIA+ individuals have not been explored. Through semi-structured interviews, this qualitative study investigated the experiences of ten LGBTQIA+ genetic counselors and genetic counseling students during graduate school admissions. Interview questions focused on participants' perceptions of the genetic counseling field prior to applying, important factors in choosing and ranking programs, decisions surrounding disclosure of LGBTQIA+ identities, interview experiences related to their identities, and the impacts, if any, of their identities on their overall admissions journey. Transcripts were coded and analyzed utilizing a constructivist grounded theory approach, resulting in the emergence of themes regarding factors that influenced participants' decisions to disclose their identity and how their LGBTQIA+ identity factored into their selection of a training program. This study adds new perspectives to the conversations around diversity, equity, and inclusion within the genetic counseling field. Further, it provides genetic counselors and genetic counseling programs insight into inclusive admissions processes and suggests ways to improve inclusivity in graduate admissions.

Transgender patients' perspectives on their cancer genetic counseling experiences.

Transgender (trans) individuals face many forms of discrimination in accessing health care, including lack of provider knowledge and denial of services. Barriers specific to the cancer setting include limited availability of information concerning cancer management and its potential impact on gender affirmation therapies and minimal training for providers regarding inclusive practices for the trans population. The limited research about the experiences of cancer genetic counseling for trans patients has investigated exclusively the perspective of the provider, not the patient. This constructivist grounded theory study sought to fill this gap in the literature by interviewing trans individuals who had undergone cancer genetic counseling. Participants were recruited through social media platforms, LGBTQ+ advocacy and cancer support groups, and the National Society of Genetic Counselors' list serv. Six semi-structured interviews were conducted with participants focusing on their expectations and goals prior to the genetic counseling session, concerns during the session, and reflections on inclusive practices. Transcripts were coded and analyzed using a constant comparative approach and five themes emerged: (a) Anxiety for the consult, (b) Disruptions of familial relationships and emotional support systems, (c) Use of inclusive language during session, (d) Impact on gender affirmation journey, and (e) Lack of appropriate cancer risk information for trans patients. The results from this pilot study suggest that trans patients experience anticipatory anxiety before the genetic counseling appointment, particularly about the potential of a physical examination. They may be more likely to experience disrupted family relationships that impact access to family history information and support. Genetic counselors should utilize inclusive language both when referring to the patient and when discussing cancer risk. Finally, additional research is needed to provide more accurate cancer risk predictions for trans individuals.

Genetic counselors' experiences with transgender individuals in prenatal and preconception settings.

Many transgender individuals want to have children and are pursuing reproductive care. Limited research has described the experiences of transgender individuals during pregnancy, and no known studies have examined reproductive genetic counseling sessions with this patient population. To understand what topics and considerations are explored within this sector of reproductive care, prenatal and preconception genetic counselors that have seen a transgender patient and/or transgender partner of a patient were recruited through an email blast to members of the National Society of Genetic Counselors. Nine genetic counselors completed phone interviews. Content analysis was used to identify, quantify, and examine the concepts within the transcripts. Six major themes emerged: (1) Trans individuals were referred for common genetic counseling indications, (2) genetic counselors were driven to think of more inclusive language, (3) genetic counselors considered ways to make written materials more inclusive, (4) trans individuals expressed discomforts in the prenatal/preconception setting, (5) genetic counselors observed challenges with the care team, and (6) genetic counselors felt underprepared. This study identifies areas within reproductive spaces of genetic counseling that could be more inclusive, particularly relating to commonly used gendered language and written materials, and provides training recommendations for genetic counselors. Additionally, we outline the reported areas of discrimination for these patients and partners, and discuss ways that genetic counselors can be advocates for respectful and equitable care within their clinics.

Genetic counselors' comfort and knowledge of cancer risk assessment for transgender patients.

Transgender individuals are often their own health advocates, especially if seeking hormone therapies and gender-affirmation surgeries. While literature exists in the genetic counseling field that explores the relationship between genetic counselors and lesbian, gay, and bisexual patients, there is less research that directly addresses transgender patients. This study assessed cancer genetic counselors' education, knowledge, and comfort with transgender health issues, such as hormone therapies and gender affirmation surgeries. A survey evaluated comfort with relevant vocabulary terms and performance on written case vignettes to approximate how cancer genetic counselors would facilitate conversations with transgender patients about cancer risks. Conclusions drawn in this study are representative of this subpopulation, which is skewed toward a younger population. Mean similarity between responses and predetermined correct answers on the case vignettes was 78.5%. A majority of participants endorsed wanting more education on implications of transgender identity on cancer risk assessment, a need underscored by some participants reporting their discomfort asking about gender pronouns. There was an overall lack of consensus on breast cancer screening based on estrogen therapy, pedigree symbol use, and testing of a minor prior to hormone therapy. This study adds to the growing literature that highlights the educational needs specific to genetic counseling to promote individualized care for transgender patients.

Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study.

Increased usage of exome and genome sequencing has made uncertainties associated with genomic sequencing methods more prevalent within medicine. Current research focuses on patients' perceptions of uncertainty related to genomic sequencing, but there is limited knowledge of the perspectives of providers. The aim of this study was to explore how professionals in genomics perceive uncertainties involved in genomic sequencing, and if or how this impacts their approach to pretest counseling. We performed 20 semi-structured interviews with genetic counselors in the United States and Canada who provide pretest genetic counseling for genomic sequencing. Interviews explored participating genetic counselors' views of uncertainty regarding genomic sequencing, how they classify it, how it manifests, and how they manage it during pretest counseling. Thematic analysis showed that genetic counselors acknowledge concepts of uncertainty that map to existing frameworks of uncertainty for genomic sequencing. Genetic counselors also perceived incongruencies between patients' and providers' expectations of genomic sequencing, which prompted them to modify patients' perceptions of uncertainty related to genomic sequencing. All genetic counselors agreed that guidance and strategies for genomic sequencing pretest counseling would be helpful, particularly for novice genetic counselors and non-genetics providers. These findings highlight the need and potential for conceptual models of uncertainty and uncertainty management strategies to facilitate patient-centered pretest counseling for genomic sequencing.

Cancer genetic counselors' experiences with transgender patients: A qualitative study.

It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender-related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Through inductive analysis, six themes emerged: (1) documentation systems are not inclusive or clear; (2) genetic counselors feel unprepared for these sessions; (3) gender affirming hormones impact risk assessment; (4) genetic testing affects gender affirming surgical decisions; (5) transgender patients present at younger ages to clinic; and (6) pathogenic variants allow for insurance coverage for gender affirming surgeries. This study's findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.

Queering genomics: How cisnormativity undermines genomic science.

Over the past century, genetics and genomics ("genomics") have contributed significantly to our knowledge of human biology and disease. Genomics has also bolstered inaccurate and harmful arguments about "essential" differences between socially defined groups. These purported differences have reinforced class hierarchies and justified the mistreatment of groups such as Black people, Indigenous people, and other people of color and/or people with disabilities. With this history in mind, we explore how genomics is used to reinforce scientifically unsound understandings of the relationship between two fundamental aspects of the human experience: sex and gender. We argue that imprecise, inaccurate practices for collecting data and conducting genomic research have adversely influenced genomic science and can contribute to the stigmatization of people whose sex and/or gender challenge binary expectations. The results have been to preclude transgender and intersex people from accessing high-quality, evidence-based healthcare and to hinder their participation in scientifically sound research. In this perspective, we use the lens of queer theory to render this situation more visible. First, we highlight the theoretical contributions queer theory can make to genomic science. Second, we examine practices in research and clinical genomics that exclude and stigmatize transgender and intersex people. Third, we highlight the ways that many current genomic research practices generate false conclusions that are used to support unjust public policies. We conclude by recommending ways that clinicians and researchers can-and should-harness the scientific, social, and cultural power of genomics to advance knowledge and improve lives across the spectra of sex and gender.

Intersex people's perspectives on affirming healthcare practices: A qualitative study.

Intersex people have variations in their sex characteristics that do not exclusively fall within binary definitions of male and female. This community experiences discrimination in the medical setting due to the pathologization of intersex bodies, including 'normalizing' genital surgeries without the child's consent. While research has explored biomedical aspects contributing to intersex variations, there is limited research centering intersex people's perspectives on their healthcare experiences. The aim of this qualitative study was to understand the experiences of intersex people in the medical setting, with the goal of providing recommendations to clinicians to promote affirming healthcare practices. Between November 2021 and March 2022 we conducted 15 virtual semi-structured interviews with members of the intersex community about their experiences with healthcare providers and perspectives on how their care could be improved. Participants were recruited through social media, with the majority residing in the United States. Through reflexive thematic analysis, 4 major themes were conceptualized: (1) the exclusion of intersex people in binary frameworks, (2) the common experience of medical trauma, (3) the value of psychosocial support, and (4) systemic change to address intersex healthcare. Recommendations were generated based on participants' narratives, including a recommendation for providers to use a trauma-informed approach to care. Healthcare providers must prioritize patient autonomy and ensure consent throughout their medical visits in order to promote intersex affirming care. Depathologization of intersex variations and comprehensive teachings of intersex history and medical care must be incorporated into medical curricula to mitigate experiences of medical trauma and to relieve the burden placed on patients to be their own medical experts and advocates. Participants shared the value of being connected to support groups and mental health resources. Systemic change is needed for the normalization and demedicalization of intersex variations and for the medical empowerment of the intersex community.

Characterizing Referrals for Prostate Cancer Genetic Services in a Safety-Net Hospital.

PURPOSE: Little is known about the uptake of germline genetic testing for patients with prostate cancer after 2018 guideline changes. This study characterizes genetic service referral patterns and predictors of referrals among patients with prostate cancer. METHODS: A retrospective cohort study using electronic health record data was conducted at an urban safety-net hospital. Individuals diagnosed with prostate cancer between January 2011 and March 2020 were eligible. The primary outcome was referral to genetic services after diagnosis. Using multivariable logistic regression, we identified patient characteristics associated with referrals. Interrupted time series analysis using a segmented Poisson regression examined whether guideline changes resulted in higher rates of referral after implementation. RESULTS: The cohort included 1,877 patients. Mean age was 65 years; 44% identified as Black, 32% White; and 17% Hispanic or Latino. The predominant insurance type was Medicaid (34%) followed by Medicare or private insurance (25% each). Most were diagnosed with local disease (65%), while 3% had regional and 9% had metastatic disease. Of the 1,877 patients, 163 (9%) had at least one referral to genetics. In multivariable models, higher age was negatively associated with referral (odds ratio [OR], 0.96; 95% CI, 0.94 to 0.98), while having regional (OR, 4.51; 95% CI, 2.44 to 8.34) or metastatic disease (OR, 4.64; 95% CI, 2.98 to 7.24) versus local only disease at diagnosis was significantly associated with referral. The time series analysis demonstrated a 138% rise in referrals 1 year after guideline implementation (relative risk, 3.992; 97.5% CI, 2.20 to 7.24; P < .001). CONCLUSION: Referrals to genetic services increased after guideline implementation. The strongest predictor of referral was clinical stage, suggesting opportunities to raise awareness about guideline eligibility for patients with advanced local or regional disease who may benefit from genetic services.