Non-geneticist Clinicians Research Articles

Addressing Cross-Specialty Clinical Genetics Education Needs.

Advances in genomics are transforming clinical practice, but there are too few genetics professionals to meet increasing demand. Moreover, many nongeneticist clinicians feel unprepared to incorporate genetics into practice. This study assessed clinicians' unmet genomics educational needs at a single academic institution. Qualitative interviews with Department and Division leaders informed a survey distributed to all clinicians at the institution. Survey questions focused on current practices, confidence, and desired educational resources around genetics and genomics. Data were analyzed using descriptive statistics and Fisher exact tests. Results were shared with an expert panel of Genetics-Genomics Champions to help meet educational needs across specialties. Of the 215 survey respondents, 72% were faculty, 24% were trainees, and 4% were clinical staff, representing 18 departments. Less than half felt confident using genetics in the clinic. About 81% desired more training, which did not differ by role (P = .27) or department (P = .98). The Genetics-Genomics Champions proposed delivering just-in-time content via e-consults, online materials, and departmental meetings. This study highlights clinicians' need and desire for more genetics training. It also underscores the importance of consulting genetics-savvy clinicians to identify challenges and solutions for addressing cross-specialty genetics education needs.

The UTHealth Houston Adult Cardiovascular Genomics Certificate Program: Efficacy and Impact on Healthcare Professionals.

The demand for genetic services has outpaced the availability of resources, challenging clinicians untrained in genetic integration into clinical decision-making. The UTHealth Adult Cardiovascular Genomics Certificate (CGC) program trains non-genetic healthcare professionals to recognize, assess, and refer patients with heritable cardiovascular diseases. This asynchronous online course includes 24 modules in three tiers of increasing complexity, using realistic clinical scenarios, interactive dialogues, quizzes, and tests to reinforce learning. We hypothesized that the CGC will increase genomic competencies in this underserved audience and encourage applying genomic concepts in clinical practice. Required course evaluations include pre- and post-assessments, knowledge checks in each module, and surveys for module-specific feedback. After 6 months, longitudinal feedback surveys gathered data on the long-term impact of the course on clinical practice and conducted focused interviews with learners. The CGC was accredited in September 2022. Principal learners were nurses (24%), nurse practitioners (21%), physicians (16%), and physician assistants. Scores of 283 learners in paired pre- and post-assessments increased specific skills related to recognizing heritable diseases, understanding inheritance patterns, and interpreting genetic tests. Interviews highlighted the CGC's modular structure and linked resources as key strengths. Learners endorsed confidence to use genetic information in clinical practice, such as discussing genetic concepts and risks with patients and referring patients for genetic testing. Learners were highly likely to recommend the CGC to colleagues, citing its role in enhancing heritable disease awareness. The CGC program effectively empowers non-genetic clinicians to master genomic competencies, fostering collaboration to prevent deaths from heritable cardiovascular diseases, and potentially transforming healthcare education and clinical practice.

Validation of a guidelines-based brief patient-administered digital tool to assess the need for germline genetic testing.

10605 Background: Scalable and reliable approaches are needed to assist non-genetics clinicians in assessing whether a patient meets criteria for germline genetic testing. Insurance coverage of genetic testing often depends on such assessments. RISE Risk Assessment Module: Hereditary Cancer is a brief patient-administered digital tool designed for this purpose. The tool’s assessment is based on personal and family history and is informed by national guidelines. The aim of this study was to assess the clinical validity of this digital tool by evaluating its agreement with assessments made by genetic counselors. Methods: We performed a chart review of cases from a telehealth genetic counseling practice seen July to October 2020. Extracted history was entered into the tool by the research team to model how a patient would complete the digital tool. The tool’s assessment of whether the patient met criteria for genetic testing was compared to the assessment of the genetic counselor who saw the patient. To further validate the tool, a subset of cases were analyzed for agreement between the tool and research team on which specific history-based rules in the tool’s algorithm applied for a given case. Results: The majority (121/152; 80%) of cases were female and the mean age was 52.3 (SD 15.9). Just over half of cases (85/152; 56%) had a personal history of cancer, including breast (27/85; 32%), colon (15/85; 18%), prostate (10/85; 12%), endometrial (12/85; 14%), and ovarian (7/85; 8%). 100/152 (66%) of cases met criteria for genetic testing. In 146/152 (96%) cases there was agreement between the assessments made by the tool and the genetic counselor regarding whether the patient met criteria for germline genetic testing. Nearly all disagreement (4/6; 67%) resulted from history intentionally left out of the tool as patients can rarely report them (aspects of tumor pathology 3/4; risk of having a pathogenic variant based on predictive models 1/4). For a subset of cases (62/152) we compared the tool and research team’s assessments of which aspects of the patient’s personal and family history met criteria for genetic testing. This was done by looking at which rules in the tool’s algorithm were triggered by the patient’s history. There was complete agreement between the tool and research team on which rules should be triggered. Completion of the tool took a mean of 3.3 minutes. Conclusions: The high level of agreement between the digital tool and genetic counselors supports RISE Risk Assessment Module: Hereditary Cancer as a clinically valid method of identifying individuals in need of evaluation for hereditary cancer predisposition. Complete agreement on which history-based rules applied in these cases further supports the clinical validity of the tool. Our results also suggest that the tool’s assessment can be delivered in under 5 minutes, which is critical to feasibility and scalability of the digital tool.

Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.

Research suggests variants of uncertain significance (VUSs) present a variety of challenges for genetic counselors (GCs), nongenetics clinicians, and patients. Multigene cancer panels reveal more VUSs than single gene testing as a result of the increase in the number of genes being tested. This study surveyed 87 clinical cancer GCs involved with direct patient care and 19 laboratory GCs who provide guidance to clinicians regarding genetic test results about their attitudes on various options for the reporting of VUSs by laboratories for broad multigene cancer panels. Independent samples t-tests were utilized to compare the two groups. Based on a six-point Likert-type scale (1=Strongly Disagree to 6=Strongly Agree), clinical cancer GCs (M=5.4; SD=0.8) and laboratory GCs (M=5.2; SD=0.9) agreed overall that VUSs should be reported (p=0.44; Cohen's d=0.21). When asked about specific reporting options, both clinical cancer GCs (M=1.9; SD=1.1) and laboratory GCs (M=2.1; SD=1.4) disagreed that VUSs should be reported only for genes related to the indication for testing (p=0.50; Cohen's d=0.17). Overall, most GCs felt clinicians should not choose whether VUSs should be reported on genetic test results, with clinical cancer GCs (M=1.9; SD=1.3) feeling more strongly against it than laboratory GCs (M=3.1; SD=1.4; p=0.002; Cohen's d=0.88). Generally, GCs were more in favor of VUSs not being reported for population-based screening, with laboratory GCs (M=4.7; SD=0.8) agreeing more with that practice than clinical cancer GCs (M=3.7; SD=1.4; p=0.001; Cohen's d=0.80). Both clinical cancer GCs (M=4.1; SD=1.2) and laboratory GCs (M=3.9; SD=1.2) agreed additional guidelines on how to approach VUSs in clinical practice should be developed (p=0.54; Cohen's d=0.17). While most GCs supported the reporting of VUSs overall, our analyses suggest clinical cancer and laboratory GCs may have different attitudes toward specific VUS-related reporting options. Further research is needed to elucidate GC preferences to help inform best practices for the reporting of VUSs. The development of additional standardized guidelines on how to approach VUSs would further support clinical practice.

Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing.

Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated.

Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests

Advances in genomic technology including the development of next-generation sequencing (NGS) have enabled the identification of thousands of variations at a time, allowing the discovery of novel genetic diseases. Given the volume of data generated by these investigations, attention is drawn towards reporting relevant clinical features by clinicians to guide the diagnosis and management of their patients. The Human Phenotype Ontology (HPO) developed in 2008, revolutionized the semantic vocabulary of phenotypic descriptions in genomic medicine allowing researchers, laboratories and clinical geneticists to better understand each other. In this era of personalized medicine where genetic tests are becoming more accessible, non-geneticist clinicians are expected to be more involved than ever in the process of ordering genetic tests and interpreting genetic reports. It is therefore essential that they understand and adequately apply HPO nomenclature to integrate the patient care chain and seize the opportunity offered by this tailored language. The current article highlights the importance of using HPO vocabularies in clinical practice and advocates for its wider use by non-geneticist clinicians. Correct use of HPO will reduce misunderstandings between healthcare professionals and ultimately improve the healthcare system.

Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma.

Genetic testing for hereditary cancers can improve long-term health outcomes through identifying high-risk individuals and facilitating targeted prevention and screening/surveillance. The rising demand for genetic testing exceeds the clinical genetic workforce capacity. Therefore, non-genetic specialists need to be empowered to offer genetic testing. However, it is unknown whether patient outcomes differ depending on whether genetic testing is offered by a genetics specialist or a trained non-genetics clinician. This paper describes a protocol for upskilling non-genetics clinicians to provide genetic testing, randomise high-risk individuals to receive testing from a trained clinician or a genetic counsellor, and then determine whether patient outcomes differed depending on provider-type. An experiential training program to upskill dermatologically-trained clinicians to offer genetic testing for familial melanoma is being piloted on 10-15 clinicians, prior to wider implementation. Training involves a workshop, comprised of a didactic learning presentation, case studies, simulated sessions, and provision of supporting documentation. Clinicians later observe a genetic counsellor led consultation before being observed leading a consultation. Both sessions are followed by debriefing with a genetic counsellor. Thereafter, clinicians independently offer genetic testing in the clinical trial. Individuals with a strong personal and/or family history of melanoma are recruited to a parallel-group trial and allocated to receive pre- and post- genetic testing consultation from a genetic counsellor, or a dermatologically-trained clinician. A mixed method approach measures psychosocial and behavioural outcomes. Longitudinal online surveys are administered at five timepoints from baseline to one year post-test disclosure. Semi-structured interviews with both patients and clinicians are qualitatively analysed. This is the first program to upskill dermatologically-trained clinicians to provide genetic testing for familial melanoma. This protocol describes the first clinical trial to compare patient-reported outcomes of genetic testing based on provider type (genetic counsellors vs trained non-genetic clinicians).

Does mainstream BRCA testing affect surgical decision-making in newly-diagnosed breast cancer patients?

BackgroundGermline pathogenic variants mutations) in the BRCA1 and BRCA2 genes cause an increased risk of breast cancer and ovarian cancer. Mainstream cancer genetic testing (MCG) was introduced for breast cancer patients in our unit in 2013. Non-geneticist clinicians have been trained to offer genetic testing during initial treatment planning. We assessed the impact of timely test results on surgical decision-making. MethodsWomen who had undergone mainstream genetic testing for breast cancer between September 2013 and September 2018 were identified from a prospective database. Surgical data were collected retrospectively. Results580 eligible women had mainstream genetic testing. For 474 this was their first breast cancer diagnosis. The median age was 46 years (interquartile range (IQR) 38–57). The indications were: age ≤45 years for 233 (49%); triple negative disease for 192 women (40.5%); bilateral breast cancer age <60 for 39 (8%) and other for 72 (14%) women. The median time for test initiation to result was 18 days (IQR 15-21). 302 (64% received results before surgery. 88% of those found to have a BRCA mutation before surgery opted for bilateral mastectomy (compared to 5% with BRCA wild type). An additional 106 patients had a new diagnosis on a background of previous treatment. Of these all with a pathogenic variant chose bilateral mastectomy. ConclusionTimely BRCA gene testing influences surgeons’ and patients’ choice of surgery. It reassures women with a negative result and allows those with a positive result to take an active decision about the management of their future risk.

Genodermatoses - Opportunities for Early Detection and Cancer Prevention.

Purpose of ReviewThis review describes the clinical features of the major adult-onset genodermatosis-associated hereditary cancer predisposition syndromes. Diagnosis of these conditions can be challenging due to a wide range of clinical features, varied presentations within families and the involvement of multiple medical specialities.Recent FindingsBy emphasising the cutaneous and other non-malignant features, we aim to alert clinicians from all specialities to clues in the clinical history which should prompt consideration of a genodermatosis-associated hereditary cancer predisposition syndrome. In recognition of the move towards remote (telephone or video) appointments since the Covid-19 pandemic, we propose criteria which could be used by Cancer Genetics services to triage patients for in-person consultations in order to examine for signs of genodermatosis.SummaryAlthough individually rare, familiarity with these conditions amongst genetic and non-genetic clinicians is important as early diagnosis provides an opportunity to implement risk-reduction measures prior to a cancer diagnosis.

Recommendations for the implementation of genetic testing for metastatic prostate cancer patients in Canada.

Genetic testing in advanced prostate cancer is rapidly moving to become standard of care. Testing for genetic alterations in genes involved in DNA repair pathways, particularly those implicated in the homologous recombination repair (HRR) pathway, in patients with metastatic prostate cancer (mPCa) can inform selection of optimal therapies, as well as provide information about familial cancer risks; however, there are currently no consistent Canadian guidelines in place for genetic testing in mPCa. A multidisciplinary steering committee guided the process of an environmental scan to define the current landscape, as well as the perceived challenges, through interviews with specialists from 14 sites across Canada. The challenges most commonly identified include limited testing guidelines and protocols, inadequate education and awareness, and insufficient resources. Following the environmental scan, an expert multidisciplinary working group with pan-Canadian representation from medical oncologists, urologists, medical geneticists, genetic counsellors, pathologists, and clinical laboratory scientists convened in virtual meetings to discuss the challenges in implementation of genetic testing in mPCa across Canada. Key recommendations from the working group include implementation of germline and tumor HRR testing for all patients with mPCa, with a mainstreaming model in which non-geneticist clinicians can initiate germline testing. The working group defined the roles and responsibilities of the various healthcare providers (HCPs) involved in the genetic testing pathway for mPCa patients. In addition, the educational needs for all HCPs involved in the genetic testing pathway for mPCa were defined. As genetic testing for mPCa becomes standard of care, additional resources and investments will be required to implement the changes that will be needed to support the necessary volume of genetic testing, to ensure equitable access, and to provide education to all stakeholders.

Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care

Efforts have been made to standardize laboratory variant interpretation, but clinicians are ultimately tasked with clinical correlation and application of genetic test results in patient care. This study aimed to explore processes clinicians utilize when reviewing and returning genetic test results, and how they impact patient care. Medical geneticists, genetic counselors, and nongenetics clinicians from two Midwestern states completed surveys (n = 98) and in-depth interviews (n = 29) on practices of reviewing and returning genetic test results. Retrospective chart review (n = 130) examined discordant interpretations and the impact on care. Participants reported variable behaviors in both reviewing and returning results based on factors such as confidence, view of role, practice setting, and relationship with the lab. Providers did not report requesting changes to variant classifications from laboratories, but indicated relaying conflicting classifications to patients in some cases. Chart reviews revealed medically impactful differences in interpretation between laboratories and clinicians in 18 (13.8%) records. Clinician practices for reviewing and integrating genetic test results into patient care vary within and between specialties and impact patient care. Strategies to better incorporate both laboratory and clinician expertise into interpretation of genetic results could result in improved care across providers and settings.

Effect of genetics clinical decision support tools on health-care providers’ decision making: a mixed-methods systematic review

Patient care involving genetics is challenging for nongenetics health-care providers. Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or management recommendations. This systematic review synthesized evidence on whether using CDS tools resulted in appropriate changes in genetics-related patient management made by nongenetics health-care providers. A comprehensive search in MEDLINE, Embase, and CINAHL yielded 2,239 unique articles. Two independent reviewers screened abstracts and full texts for quantitative, qualitative, and mixed-methods articles on management changes by nongenetics clinicians using a CDS tool as part of patient care. Effect sizes were calculated for quantitative studies and all articles were analyzed together using narrative synthesis. Twenty articles were included. In 12/16 quantitative studies, CDS tools slightly increased appropriate changes in management, but study design appeared to affect the statistical significance of the effect. The qualitative data in the four remaining studies reaffirmed that CDS tools facilitated management decisions but raised questions about their effect on patient outcomes. Our review assessed clinical utility of CDS tools, finding that they slightly increase appropriate management changes by nongenetics providers. Future studies on CDS tools should explicitly evaluate decision making and patient outcomes.

Mainstreaming informed consent for genomic sequencing: A call for action

The wider availability of genomic sequencing, notably gene panels, in cancer care allows for personalised medicine or the tailoring of clinical management to the genetic characteristics of tumours. While the primary aim of mainstream genomic sequencing of cancer patients is therapy-focussed, genomic testing may yield three types of results beyond the answer to the clinical question: suspected germline mutations, variants of uncertain significance (VUS), and unsolicited findings pertaining to other conditions. Ideally, patients should be prepared beforehand for the clinical and psychosocial consequences of such findings, for themselves and for their family members, and be given the opportunity to autonomously decide whether or not to receive such unsolicited genomic information. When genomic tests are mainstreamed into cancer care, so should accompanying informed consent practices. This paper outlines what mainstream oncologists may learn from the ethical tradition of informed consent for genomic sequencing, as developed within clinical genetics. It argues that mainstream informed consent practices should focus on preparing patients for three types of unsolicited outcomes, briefly and effectively. Also, it argues that when the chance of unsolicited findings is very low, opt-out options need not be actively offered. The use of a layered approach – integrated in information systems – should render informed consent feasible for non-geneticist clinicians in mainstream settings. (Inter) national guidelines for mainstreaming informed consent for genomic sequencing must be developed.

Management of Secondary Genomic Findings

Secondary genomic findings are increasingly being returned to individuals as opportunistic screening results. A secondary finding offers the chance to identify and mitigate disease that may otherwise be unrecognized in an individual. As a form of screening, secondary findings must be considered differently from sequencing results in a diagnostic setting. For these reasons, clinicians should employ an evaluation and long-term management strategy that accounts for both the increased disease risk associated with a secondary finding and the lower positive predictive value of a screening result compared to an indication-based testing result. Here we describe an approach to the clinical evaluation and management of an individual who presents with a secondary finding. This approach enumerates five domains of evaluation—(1) medical history, (2) physical exam, (3) family history, (4) diagnostic phenotypic testing, and (5) variant correlation—through which a clinician can distinguish a molecular finding from a clinicomolecular diagnosis of genomic disease. With this framework, both geneticists and non-geneticist clinicians can optimize their ability to detect and mitigate genomic disease while avoiding the pitfalls of overdiagnosis. Our goal with this approach is to help clinicians translate secondary findings into meaningful recognition, treatment, and prevention of disease.

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

Rapid genomic sequencing (RGS) is increasingly being used in the care of critically ill children. Here we describe a qualitative study exploring parent and professional perspectives around the usefulness of this test, the potential for unintended harms and the challenges for delivering a wider clinical service. The Rapid Paediatric Sequencing (RaPS) study offered trio RGS for diagnosis of critically ill children with a likely monogenic disorder. Main and actionable secondary findings were reported. Semi-structured interviews were conducted with parents of children offered RGS (n = 11) and professionals (genetic clinicians, non-genetic clinicians, scientists and consenters) (n = 19) by telephone (parents n = 10/professionals n = 1) or face-to-face (parents n = 1/professionals n = 18). We found that participants held largely positive views about RGS, describing clinical and emotional benefits from the opportunity to obtain a rapid diagnosis. Parental stress surrounding their child’s illness complicates decision making. Parental concerns are heightened when offered RGS and while waiting for results. The importance of multidisciplinary team working to enable efficient delivery of a rapid service was emphasised. Our findings give insight into the perceived value of RGS for critically ill children. Careful pre-test counselling is needed to support informed parental decision making. Many parents would benefit from additional support while waiting for results. Education of mainstream clinicians is required to facilitate clinical implementation.

Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients.

Despite widespread use of genomic sequencing (GS) in clinical care, there has been little exploration of actual experiences of genetic health professionals (GHPs) using GS in clinical practice worldwide. To address this, semi-structured interviews were conducted with 31 clinical geneticists and genetic counselors across Europe, Australia, and Canada to explore their experiences with returning results from GS to patients. GHPs remarked that patients' reactions to receiving causative results vary; some patients are relieved or appreciative at identification of a genetic cause, while others express frustration that finding an answer does not lead to a treatment. GHPs discussed the importance of managing expectations in pre-test counseling to minimize disappointment. Although some patients experience mild distress, they generally cope well receiving unsolicited findings and appreciate being informed of their increased risk. While many GHPs felt patients understand what a variant of uncertain significance (VUS) means, a proportion found VUS quite difficult to convey and had concerns for patients' level of understanding. A proportion mentioned concerns regarding potential negative repercussions of non-genetic clinicians misinterpreting the significance of VUS. These results provide important insights into the challenges GHPs can experience returning GS results to patients, highlighting a need for additional training for GHPs and non-genetic clinicians.

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

ObjectivesGenome sequencing is poised to be incorporated into clinical care for diagnoses of rare diseases and some cancers in many parts of the world. Healthcare professionals are key stakeholders in...

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

PurposeIn response to genetic testing being widely ordered by nongenetics clinicians, the Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; clinicalgenome.org) developed guidance to facilitate communication about genetic testing and efficiently improve the patient experience. Considering ethical, legal, and social implications, and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The CADRe rubrics allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians. MethodsWe present results of a formative survey of 66 genetics clinicians to assess the consent rubric for nine genes (MLH1, CDH1, TP53, GJB2, OTC; DMD, HTT, and CYP2C9/VKORC1). We also conducted interviews and focus groups with family and patient stakeholders (N = 18), nongenetics specialists (N = 27), and genetics clinicians (N = 32) on both rubrics. ResultsFormative evaluation of the CADRe rubrics suggests key factors on which to make decisions about consent and disclosure discussions for a “typical” patient. ConclusionWe propose that the CADRe rubrics include the primary issues necessary to guide communication recommendations, and are ready for pilot testing by nongenetics clinicians. Consultation with genetics clinicians can be targeted toward more complex or intensive consent and disclosure counseling.

Clinical providers\u2019 experiences with returning results from genomic sequencing: an interview study

BackgroundCurrent medical practice includes the application of genomic sequencing (GS) in clinical and research settings. Despite expanded use of this technology, the process of disclosure of genomic results to patients and research participants has not been thoroughly examined and there are no established best practices.MethodsWe conducted semi-structured interviews with 21 genetic and non-genetic clinicians returning results of GS as part of the NIH funded Clinical Sequencing Exploratory Research (CSER) Consortium projects. Interviews focused on the logistics of sessions, participant/patient reactions and factors influencing them, how the sessions changed with experience, and resources and training recommended to return genomic results.ResultsThe length of preparation and disclosure sessions varied depending on the type and number of results and their implications. Internal and external databases, online resources and result review meetings were used to prepare. Respondents reported that participants’ reactions were variable and ranged from enthusiasm and relief to confusion and disappointment. Factors influencing reactions were types of results, expectations and health status. A recurrent challenge was managing inflated expectations about GS. Other challenges included returning multiple, unanticipated and/or uncertain results and navigating a rare diagnosis. Methods to address these challenges included traditional genetic counseling techniques and modifying practice over time in order to provide anticipatory guidance and modulate expectations. Respondents made recommendations to improve access to genomic resources and genetic referrals to prepare future providers as the uptake of GS increases in both genetic and non-genetic settings.ConclusionsThese findings indicate that returning genomic results is similar to return of results in traditional genetic testing but is magnified by the additional complexity and potential uncertainty of the results. Managing patient expectations, initially identified in studies of informed consent, remains an ongoing challenge and highlights the need to address this issue throughout the testing process. The results of this study will help to guide future providers in the disclosure of genomic results and highlight educational needs and resources necessary to prepare providers. Future research on the patient experience, understanding and follow-up of recommendations is needed to more fully understand the disclosure process.

Evaluating and improving the implementation of a community-based hereditary cancer screening program.

Healthcare disparities exist in the provision of cancer genetic services including genetic counseling and testing related to BRCA1/2 mutations. To address this in a community health setting a screening tool was created to identify high-risk women. This study evaluates the implementation of the tool and identifies opportunities for improved cancer genetic screening, including regular clinician education. A mixed-method approach was used to evaluate clinician utilization of the screening tool at Planned Parenthood affiliates. Novel surveys that evaluated acceptance and implementation were administered to clinicians (n = 14) and semi-structured interviews (n = 6) were used to explore clinicians' perspectives and identify gaps in its utilization. Educational modules that addressed gaps were developed, implemented, and evaluated using a post-education survey (n = 8). Clinicians reported confidence in administering and interpreting the screening tool, but reported less confidence in their knowledge of cancer genetics and ability to connect clients with genetic counseling and testing (p = .003). Educational modules resulted in significant gains in clinician knowledge on genetic topics (p < .05) and increased self-reported confidence in connecting clients with genetic services. The modules reinforced the belief that genetic testing is beneficial for patients at increased risk (p = .001) and is important to inform subsequent medical management (p = .027). While building community clinicians' capacity to connect clients with genetic services is crucial, it is challenged by knowledge and confidence gaps in discussions of genetic services with clients. Consistent genetic-focused education with non-genetic clinicians can improve confidence and knowledge, enabling a more effective screening program in community health settings.