A team-based approach to cardiogenomic education.

While many genetic professionals are involved in the education of lay and professional audiences, most do not have formal training in education theory and program design. Partnerships with adult education experts can provide additional resources and improve the level of instruction, thereby increasing the impact of an educational intervention. This report discusses the experience of a multidisciplinary team of educators, clinicians, and researchers partnering to develop evidence-based education for cardiology practitioners. It includes practical advice for how clinicians and educators can develop more effective education through collaboration, needs assessment, instructional design, and iterative content development.

No longer "non-traditional": Genetic counselors' perceptions towards laboratory and industry roles.

A growing percentage of genetic counselors are employed in roles that do not involve direct patient care, commonly in commercial diagnostic laboratories. This study aimed to assess characteristics of laboratory and industry (LI) roles and perceptions of the genetic counseling community's views towards such roles. Members of NSGC and ABGC were invited to participate in this study. Data analysis included descriptive and inferential statistics and select participant quotes are included to highlight key points identified by statistical analyses. Three hundred twenty-six genetic counselors who self-identified as currently or previously working within an LI role responded to the survey. Over 40% of participants reported feeling that they were not perceived positively by colleagues outside of LI settings, and 54% felt that GC colleagues in non-LI roles provided mostly negative commentary about LI GC roles. Over 90% of individuals felt that their employer was a factor in the way they were perceived by others and that this factor carried a bigger weight than job title, work setting, or even professional responsibilities. Qualitative responses from open-ended text questions suggest that while perceptions toward LI roles have improved over time, commentary regarding the "dark side" of genetic counseling persists. To promote the continued, unified growth of the genetic counseling profession and other healthcare professions, it is necessary to address this source of intra-professional conflict.

Exploring a brief medical improvisational performing arts intervention for genetic counseling graduate students.

Psychosocial counseling is the foundation of genetic counseling. Genetic counseling students are required to receive in-depth training on psychosocial counseling techniques. In other medical disciplines, "medical improv," an educational method derived from improvisational theatre, has been used to allow trainees to practice clinical skills without also having to focus on medical knowledge they've not yet mastered. The present study aims to investigate the acceptability of medical improv as an educational tool for genetic counseling students. Fourteen genetic counseling students and new genetic counselors completed a 2-hr medical improv workshop and participated in follow-up interviews to discuss the workshop. Participants' responses to the intervention were positive, with 92.9% of participants responding that they would recommend medical improv training to other genetic counseling students. Participants described the medical improv workshop as helping build psychosocial skills in a safe environment, which may facilitate the use of more advanced counseling skills in clinical situations. By training students to practice psychosocial skills and building students' confidence, medical improv may help genetic counseling students and genetic counselors be more effective in challenging clinical situations, and to feel more comfortable in experimenting with new ideas and psychosocial techniques in their clinical practice.

Prenatal genetic counselors' perceptions of the impact of abortion legislation on counseling and access in the United States.

Genetic counselors have an important role in offering and appropriate coordinating abortion services for patients identified with a fetal abnormality. Few studies have been conducted to determine the effects of legislation on genetic counselors and patients. This study aimed to further our understanding of genetic counselors' perception of the impact of abortion regulations on their practice, the perceived financial and emotional impact on their patients and their ability to access abortion. A 22-question survey was developed based on themes identified by a qualitative study (Koenig et al., 2019, Journal of Genetic Counseling, 28, 790-801), and distributed to members of the National Society of Genetic Counselors; data from 113 respondents are analyzed. For analysis, participants were categorized into three groups based on the restrictiveness of their state's abortion legislation (supportive, middle ground, hostile) using the Guttmacher Institute's designation based on the amount of restrictive abortion legislation in their state. Participants reported that legislative gestational age restrictions significantly impact their counseling and coordinating of abortion services. Participants reported emotional and financial burdens that impact their patients seeking abortion; however, those in hostile states were significantly more likely to report a perceived financial or emotional impact on their patients. Participants in hostile states were more likely than those in supportive states to report that many of the addressed legislative and institutional regulations impact patients' ability to access abortion. Abortion regulations limiting the decision-making time frame for patients with a fetal abnormality have a significant impact on the practice of prenatal genetic counseling. Further restrictions may change how genetic counselors choose to counsel their patients about the option of abortion, but also may limit the availability of choices particularly for patients in rural areas, in hostile states, and those without the financial resources to travel or pursue termination at later gestational ages.

OB/GYN residents' training, attitudes, and comfort level regarding genetics.

PURPOSE: While the availability, utility, and complexity of genetic testing expands, limited information exists regarding obstetrician-gynecologist (OB/GYN) residents' knowledge of genetics and confidence in providing genetic services. This study examined OB/GYN residents' educational and clinical experiences with genetics during residency, personal attitudes regarding the value of genetics and its role in their practice, level of comfort with genetic counseling, and potential motivators for learning about genetics. METHODS: Eligible participants included residents currently enrolled in a CREOG-associated OB/GYN training program in the USA or Canada. A link to an anonymous 49-question RedCap survey was emailed to program coordinators in October 2017 to be forwarded to all OB/GYN residents. RESULTS: Eighty-two OB/GYN residents representing all postgraduate years of training completed the survey. Residents indicated learning about genetics through discussions with attending physicians, lectures/courses, and publications. While residents felt their attendings valued (81%) and were knowledgeable about (85%) genetics, 28% felt their attendings did not reinforce concepts that were learned in coursework. Residents valued staying informed about the field of genetics and felt providing genetic services was within their scope of practice; however, there were deficiencies in self-reported comfort level, particularly regarding hereditary cancer counseling. Residents cited accessibility of information as a top motivator to stay informed. CONCLUSIONS: Clinically relevant, accessible didactic information about genetics reinforced in the clinical setting may increase residents' level of comfort with providing genetic services.

Exploring prenatal genetic counselors' perceptions of abortion laws in restrictive states.

In many states, abortion laws are becoming increasingly restrictive. Prenatal genetic counselors often see patients after the diagnosis of a fetal abnormality or genetic disorder and discuss the option of termination of pregnancy. The purpose of this study was to understand prenatal genetic counselors' perspectives on how state abortion laws impact their practice. Qualitative semi-structured interviews were conducted with 16 prenatal genetic counselors in states with restrictive abortion laws who were recruited from the National Society of Genetic Counselors' online directory. Verbatim transcripts were analyzed thematically, yielding five themes: genetic counselors in this study described (a) how state laws restrict access to abortion; (b) how they navigate state laws and institutional policies regarding abortion; (c) how they tailor their professional practice in the context of state abortion laws; (d) how abortion laws burden patients; and (e) how they engage in forms of advocacy. Participants described the financial and emotional burden placed on their patients by state abortion laws and how the laws influence their patient interactions. As access to abortion becomes more restricted, it is important to be aware of how this will impact genetic counselors and their patients.

Genetics professionals' attitudes toward prenatal exome sequencing.

Prenatal exome sequencing (ES) currently has limited use in the clinical setting, but research suggests that it has added diagnostic utility over karyotyping and array techniques for prenatal diagnosis of fetuses presenting with ultrasound abnormalities. The purpose of this study was to assess the attitudes of genetics professionals toward the clinical implementation of prenatal ES in order to guide development of professional guidelines. A survey was developed using themes identified in previous qualitative studies and was distributed to members of the American College of Medical Genetics and Genomics (ACMG), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC). A total of 498 participants completed some portion of the survey. There was consensus among participants that there would be clinical utility of prenatal ES when used for diagnosis, pregnancy management, and termination decisions. The majority also agreed that prenatal ES was distinct from its current use in the pediatric and adult settings. There were many areas of contention regarding which types of results should be returned to families and whether or not the current ACMG guidelines for return of incidental findings should also apply to the prenatal setting. Overall, professional guidance is needed to address the continuing concerns surrounding prenatal ES as its utilization in this setting is expected to grow.

Advocacy and actions to address disparities in access to genomic health care: A report on a National Academies workshop.

BACKGROUND: In the United States, access to genomic risk assessment, testing, and follow up care is most easily obtained by those who have sufficient financial, educational, and social resources. Multiple barriers limit the ability of populations without those resources to benefit from health care that integrates genomics in assessment of disease risk, diagnosis, and targeted treatment. PURPOSE: To summarize barriers and potential actions to reduce genomic health care disparities. METHOD: Summarize authors' views on discussions at a workshop hosted by the National Academy of Medicine. DISCUSSION: Barriers include access to health care providers that utilize genomics, genetic literacy of providers and patients, and absence of evidence of gene variants importance in ancestrally diverse underserved populations. CONCLUSION: Engagement between underserved communities, health care providers, and policy makers is an essential component to raise awareness and seek solutions to barriers in access to genomic health care for all populations.

Clinical genetic counselors: An asset in the era of precision medicine.

Trying to predict what genetic counseling will look like in the era of precision medicine is a continuous challenge. According to the National Institutes of Health, precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle. In order to explore the future of genetic counseling practice in this era, this article examines the current genetic counseling practice, internal and external forces that most likely will continue to shape the genetic counseling profession, and discusses the most important aspects of what genetic counselors have to offer in the era of precision medicine.

African American Living Donors' Attitudes About APOL1 Genetic Testing: A Mixed Methods Study.

RATIONALE & OBJECTIVE: African American live kidney donors ("donors") have a greater risk for kidney failure than European American donors. Apolipoprotein L1 gene (APOL1) variants in African Americans may be associated with this disparity. STUDY DESIGN: Cross-sectional mixed-methods design. SETTING & PARTICIPANTS: African American donors at 1 transplantation center. ANALYTICAL APPROACH: Semistructured interviews assessed attitudes about APOL1 genetic testing, willingness to undergo APOL1 testing, hypothetical decisions about donating with 2 APOL1 variants, and demographics. Surveys assessed perceptions of ethnic identity and genetics knowledge. Interview transcriptions were analyzed using thematic analysis. Survey data were analyzed using descriptive statistics. RESULTS: 23 donors participated in semistructured interviews. Most (96%) reported that transplantation centers should routinely offer APOL1 genetic testing to all African American potential donors. Most (87%) would have been willing to undergo APOL1 testing before donating. Although study participants noted that APOL1 testing may deter African American potential donors from donating, most (61%) would have donated even if they had 2 high-risk APOL1 variants. Several themes emerged. Study participants believed that APOL1 testing was beneficial for providing information to help donors make informed donation decisions. Participants expressed concern about APOL1 variants placing donors at harm for kidney failure, and therefore valued taking preventive health measures. Participants believed that potential donors would experience psychological distress from learning that they have 2 gene variants and could harm their recipients. Participants were apprehensive about insurance coverage and costs of APOL1 testing and feared that APOL1 genetic test results could discriminate against African Americans. LIMITATIONS: Findings may not be generalizable to African American potential donors. CONCLUSIONS: Findings suggest that African American donors support APOL1 genetic testing yet fear that APOL1 variants and genetic testing could adversely affect donors' health and ethnic identity. Transplantation centers using APOL1 genetic testing should address African American donors' concerns about APOL1 genetic testing to optimize future donors' informed consent practices.

Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting.

Exome sequencing is a clinical diagnostic test offered primarily for children and adults with suspected genetic conditions. The purpose of this study was to explore issues related to exome sequencing in a reproductive clinical setting. This was a qualitative study using semi-structured interviews. Participants were professionals drawn from four key stakeholder groups-healthcare providers, laboratory/industry, ethics, and government. Transcribed interviews were analyzed for emergent themes. Most participants saw potential clinical utility in offering prenatal exome sequencing for diagnostic purposes as opposed to screening. Participants expressed similar challenges already encountered with using exome sequencing in a pediatric setting, such as difficulty interpreting results and voiced many of the same concerns posed by prenatal testing, such as adequate pretest counseling. While previously reported issues and challenges were mentioned, participants agreed those difficulties are anticipated to be much greater with prenatal exome sequencing because of the scope of testing and the option for pregnancy decision-making. The results of this study help gain a better understanding of the implications of using exome sequencing in a prenatal setting. Development of guidelines is also warranted to aid clinical practice and laboratory standards for reporting prenatal results.

Expanding the genetic counseling workforce: program directors' views on increasing the size of genetic counseling graduate programs.

PURPOSE: Although there is an anticipated need for more genetic counselors, little is known about limitations at the graduate training level. We evaluated opportunities for growth of the genetic counseling (GC) workforce by exploring program directors' perspectives on increasing number of graduate trainees. METHODS: Thirty US-based GC program directors (PDs) were recruited through the Association of Genetic Counseling Program Directors' listserv. Online surveys and semistructured phone interviews were used to explore factors impacting the expansion of the GC workforce. RESULTS: Twenty-five PDs completed the survey; 18 interviews were conducted. Seventy-three percent said they believe that the workforce is growing too slowly and the number of graduates should increase. Attitudes were mixed regarding whether the job market should be the main factor driving workforce expansion. Thematic analysis of transcripts identified barriers to program expansion in six categories: funding, accreditation requirements, clinical sites, faculty availability, applicant pool, and physical space. CONCLUSION: General consensus among participants indicates the importance of increasing the capacity of the GC workforce pipeline. Addressing funding issues, examining current accreditation requirements, and reevaluating current education models may be effective strategies to expanding GC program size. Future research on increasing the number of GC programs and a needs assessment for GC services are suggested.Genet Med 18 8, 842-849.

Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.

Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists' (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.

Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois.

Storage and use of residual dried blood spots (DBS) from newborn screening (NBS) for research purposes has been a topic of elevated interest following high profile disputes between genetic privacy advocacy groups and state NBS programs. Our objective was to assess public opinion in Illinois regarding storage and use of residual DBS for research. Five hundred twenty-six Illinois residents completed a survey assessing attitudes about research uses for DBS, storage length, and consent issues. Over 80 % of respondents expressed agreement with questions regarding research uses of DBS. Eighty-three percent of respondents were in favor of storage for at least one year with 44 % favoring indefinite storage. Respondents with higher educational attainment were more likely to support research use of DBS and less likely to desire contact for each future study (P < 0.05). Black respondents were less likely than white respondents to express agreement for the use of DBS for research or to favor long-term storage (P < 0.05). Support was high for storage and use of DBS in our sample. Consent was important and respondents wanted choices about participation. Forty-two percent of respondents were not aware of NBS prior to this survey, highlighting a need for greater education about this public health program. Trust in the public health service of NBS must be protected through transparency in the policy process.

Genetics professionals' opinions of whole-genome sequencing in the newborn period.

Newborn screening (NBS) programs have been successful in identifying infants with rare, treatable, congenital conditions. While current programs rely largely on biochemical analysis, some predict that in the future, genome sequencing may be used as an adjunct. The purpose of this exploratory pilot study was to begin to characterize genetics professionals' opinions of the use of whole-genome sequencing (WGS) in NBS. We surveyed members of the American College of Medical Genetics and Genomics (ACMG) via an electronic survey distributed through email. The survey included questions about results disclosure, the current NBS paradigm, and the current criteria for adding a condition to the screening panel. The response rate was 7.3 % (n = 113/1549). The majority of respondents (85 %, n = 96/113) felt that WGS should not be currently used in NBS, and that if it were used, it should not be mandatory (86.5 %, n = 96/111). However, 75.7 % (n = 84/111) foresee it as a future use of WGS. Respondents felt that accurate interpretation of results (86.5 %, n = 83/96), a more extensive consent process (72.6 %, n = 69/95), pre- (79.2 %, n = 76/96) and post-test (91.6 %, n = 87/95) counseling, and comparable costs (70.8 %, n = 68/96) and turn-around-times (64.6 %, n = 62/96) to current NBS would be important for using WGS in NBS. Participants were in favor of disclosing most types of results at some point in the lifetime. However, the majority (87.3 %, n = 96/110) also indicated that parents should be able to choose what results are disclosed. Overall, respondents foresee NBS as a future use of WGS, but indicated that WGS should not occur within the framework of traditional NBS. They agreed with the current criteria for including a condition on the recommended uniform screening panel (RUSP). Further discussion about these criteria is needed in order to better understand how they could be utilized if WGS is incorporated into NBS.

Characterizing genetic variants for clinical action.

Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients. However, few variants have been integrated into routine clinical practice. The reasons for this are several, but two of the most significant are limited evidence about the clinical implications of the variants and a lack of a comprehensive knowledge base that captures genetic variants, their phenotypic associations, and other pertinent phenotypic information that is openly accessible to clinical groups attempting to interpret sequencing data. As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for collecting and characterizing data on the clinical implications of variants, developing consensus on their actionability, and making this information available for clinical use. The National Human Genome Research Institute (NHGRI) and the Wellcome Trust thus convened a workshop to consider the processes and resources needed to: (1) identify clinically valid genetic variants; (2) decide whether they are actionable and what the action should be; and (3) provide this information for clinical use. This commentary outlines the key discussion points and recommendations from the workshop.

Development of a culturally targeted chatbot to inform living kidney donor candidates of African ancestry about APOL1 genetic testing: a mixed methods study.

Clinical chatbots are increasingly used to help integrate genetic testing into clinical contexts, but no chatbot exists for Apolipoprotein L1 (APOL1) genetic testing of living kidney donor (LKD) candidates of African ancestry. Our study aimed to culturally adapt and assess perceptions of the Gia® chatbot to help integrate APOL1 testing into LKD evaluation. Ten focus groups and post-focus group surveys were conducted with 54 LKDs, community members, and kidney transplant recipients of African ancestry. Data were analyzed through thematic analysis and descriptive statistics. Key themes about making Gia culturally targeted included ensuring: (1) transparency by providing Black LKDs' testimonials, explaining patient privacy and confidentiality protections, and explaining how genetic testing can help LKD evaluation; (2) content is informative by educating Black LKDs about APOL1 testing instead of aiming to convince them to undergo testing, presenting statistics, and describing how genetic discrimination is legally prevented; and (3) content avoids stigma about living donation in the Black community. Most agreed Gia was neutral and unbiased (82%), trustworthy (82%), and words, phrases, and expressions were familiar to the intended audience (85%). Our culturally adapted APOL1 Gia chatbot was well regarded. Future research should assess how this chatbot could supplement provider discussion prior to genetic testing to scale APOL1 counseling and testing for LKD candidate clinical evaluation.