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.

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.

Challenges of Integrating APOL1 Genetic Test Results into the Electronic Health Record.

OBJECTIVES: Integrating genetic test results into the electronic health record (EHR) is essential for integrating genetic testing into clinical practice. This article describes the organizational challenges of integrating discrete apolipoprotein L1 (APOL1) genetic test results into the EHR for a research study on culturally sensitive genetic counseling for living kidney donors. METHODS: We convened a multidisciplinary team across three institutions (Northwestern University, Northwestern Memorial HealthCare [NMHC], and OHSU Knight Diagnostic Laboratories [KDL]), including researchers, physicians, clinical information technology, and project management. Through a series of meetings over a year between the team and the genetic testing laboratory, we explored and adjusted our EHR integration plan based on regulatory and budgetary constraints. RESULTS: Our original proposal was to transmit results from KDL to NMHC as structured data sent via Health Level Seven (HL7) v2 message. This was ultimately deemed infeasible given the time and resources required to establish the interface, and the low number of samples to be processed for the study (n = 316). We next explored the use of Epic's Care Everywhere interoperability platform, but learned it was not possible as a laboratory test ordered for a research study; even though our intent was to study the APOL1 genetic test result's clinical use and impact, test results were still considered "research results." Faced with two remaining options-downloading a PDF from the KDL laboratory portal or scanning a faxed result from KDL-only a PDF of the APOL1 test result could be integrated into the EHR, reinforcing the status quo. CONCLUSION: Even with early and ongoing stakeholder engagement, dedicated project management, and funding, unanticipated implementation challenges-especially for research projects-can result in drastic design tradeoffs.

Implementation of a culturally competent APOL1 genetic testing programme into living donor evaluation: A two-site, non-randomised, pre-post trial design.

INTRODUCTION: While living donor (LD) kidney transplantation is the optimal treatment for patients with kidney failure, LDs assume a higher risk of future kidney failure themselves. LDs of African ancestry have an even greater risk of kidney failure post-donation than White LDs. Because evidence suggests that Apolipoprotein L1 (APOL1) risk variants contribute to this greater risk, transplant nephrologists are increasingly using APOL1 genetic testing to evaluate LD candidates of African ancestry. However, nephrologists do not consistently perform genetic counselling with LD candidates about APOL1 due to a lack of knowledge and skill in counselling. Without proper counselling, APOL1 testing will magnify LD candidates' decisional conflict about donating, jeopardising their informed consent. Given cultural concerns about genetic testing among people of African ancestry, protecting LD candidates' safety is essential to improve informed decisions about donating. Clinical 'chatbots', mobile apps that provide genetic information to patients, can improve informed treatment decisions. No chatbot on APOL1 is available and no nephrologist training programmes are available to provide culturally competent counselling to LDs about APOL1. Given the shortage of genetic counsellors, increasing nephrologists' genetic literacy is critical to integrating genetic testing into practice. METHODS AND ANALYSIS: Using a non-randomised, pre-post trial design in two transplant centres (Chicago, IL, and Washington, DC), we will evaluate the effectiveness of culturally competent APOL1 testing, chatbot and counselling on LD candidates' decisional conflict about donating, preparedness for decision-making, willingness to donate and satisfaction with informed consent and longitudinally evaluate the implementation of this intervention into clinical practice using the Reach, Effectiveness, Adoption, Implementation and Maintenance framework. ETHICS AND DISSEMINATION: This study will create a model for APOL1 testing of LDs of African ancestry, which can be implemented nationally via implementation science approaches. APOL1 will serve as a model for integrating culturally competent genetic testing into transplant and other practices to improve informed consent. This study involves human participants and was approved by Northwestern University IRB (STU00214038). Participants gave informed consent to participate in the study before taking part. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT04910867. Registered 8 May 2021, https://register. CLINICALTRIALS: gov/prs/app/action/SelectProtocol?sid=S000AWZ6&selectaction=Edit&uid=U0001PPF&ts=7&cx=-8jv7m2 ClinicalTrials.gov Identifier: NCT04999436. Registered 5 November 2021, https://register. CLINICALTRIALS: gov/prs/app/action/SelectProtocol?sid=S000AYWW&selectaction=Edit&uid=U0001PPF&ts=11&cx=9tny7v.

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.

Utilizing Public Health Frameworks and Partnerships to Ensure Equity in DNA-Based Population Screening.

DNA-Based population screening in the United States has the promise to improve the health of all people in all communities. We highlight recent DNA-based population screening examples at the state, local, and individual level. Key public health principles and concepts with a focus on equity appear to be lacking in current efforts. We request 'A Call to Action' that involves all partners in DNA-based population screening. Potential actions to consider include: a) identification and elimination of systemic barriers that result in health inequities in DNA-based population screening and follow-up; b) creation of a national multidisciplinary advisory committee with representation from underserved communities; c) revisiting well-described public health screening principles and frameworks to guide new screening decisions and initiatives; d) inclusion of the updated Ten Essential Public Health Services with equity at the core in efforts at the local, state and national level.

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.

Practitioners' Confidence and Desires for Education in Cardiovascular and Sudden Cardiac Death Genetics.

Background Educating cardiologists and health care professionals about cardiovascular genetics and genetic testing is essential to improving diagnosis and management of patients with inherited cardiomyopathies and arrhythmias and those at higher risk for sudden cardiac death. The aim of this study was to understand cardiology and electrophysiology practitioners' current practices, confidence, and knowledge surrounding genetic testing in cardiology and desired topics for an educational program. Methods and Results A one-time survey was administered through purposive email solicitation to 131 cardiology practitioners in the United States. Of these, 107 self-identified as nongenetic practitioners. Over three quarters of nongenetic practitioners reported that they refer patients to genetic providers to discuss cardiovascular genetic tests (n=82; 76.6%). More than half of nongenetic practitioners reported that they were not confident about the types of cardiovascular genetic testing available (n=60; 56%) and/or in ordering appropriate cardiovascular genetic tests (n=66; 62%). In addition, 45% (n=22) of nongenetic practitioners did not feel confident making cardiology treatment recommendations based on genetic test results. Among all providers, the most desired topics for an educational program were risk assessment (94%) and management of inherited cardiac conditions based on guidelines (91%). Conclusions This study emphasizes the importance of access to genetics services in the cardiology field and the need for addressing the identified deficit in confidence and knowledge about cardiogenetics and genetic testing among nongenetic providers. Additional research is needed, including more practitioners from underserved areas.

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.

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.

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.

A Focus Group Study on African American Living Donors' Treatment Preferences, Sociocultural Factors, and Health Beliefs About Apolipoprotein L1 Genetic Testing.

INTRODUCTION: Because apolipoprotein L1 (APOL1) risk variants may contribute to live donors' kidney failure postdonation, professional guidelines suggest informing potential donors with African ancestry about the availability of APOL1 genotyping. This study assessed African American (AA) donors' perceptions of APOL1 genetic testing and how APOL1 may affect ethnic identity. METHODS/APPROACH: Four focus groups were conducted with AA donors about their decision-making for and perceptions of APOL1 genetic testing and donation to inform a new culturally targeted educational brochure on APOL1 genetic testing. Qualitative data were analyzed by thematic analysis. FINDINGS: Seventeen donors participated (47% participation rate). Four major themes emerged. (1) In hypothetical scenarios, most participants would have undergone APOL1 testing during donor evaluation to make a more informed decision, but many would have still donated. (2) Participants desired information about how having 2 APOL1 risk variants affects the donor's and the recipient's health. (3) Participants referred to diversity of genetic ancestry and cultural constructions of racial/ethnic identity to question the population at risk for APOL1 risk variants and recommended that all potential donors undergo genetic testing and receive education about APOL1. (4) Participants worried that out-of-pocket costs would deter APOL1 testing and that APOL1 could become a preexisting condition and discriminate against AAs. DISCUSSION: Our findings suggest that AA donors desire APOL1 testing to foster informed consent. Transplant clinicians should be aware of these responses to APOL1 testing and be sensitive to historical issues of distrust and discrimination.

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.

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.

The Global State of the Genetic Counseling Profession.

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.

A National Survey of Transplant Surgeons and Nephrologists on Implementing Apolipoprotein L1 (APOL1) Genetic Testing Into Clinical Practice.

INTRODUCTION: There is debate over whether Apolipoprotein L1 (APOL1) gene risk variants contribute to African American (AA) live donors' (LD) increased risk of kidney failure. Little is known about factors influencing physicians' integration of APOL1 genetic testing of AA LDs into donor evaluation. DESIGN: We conducted a cross-sectional survey, informed by Roger's Diffusion of Innovations theory, among nephrology and surgeon members of the American Society of Nephrology, American Society of Transplantation, and American Society of Transplant Surgeons about their practices of and attitudes about APOL1 genetic testing of AA potential LDs. Descriptive statistics and bivariate analyses were performed. RESULTS: Of 383 completed surveys, most physicians believed that APOL1 testing can help AA LDs make more informed donation decisions (87%), and the addition of APOL1 testing offers better clinical information about AA LD's eligibility for donation than existing evaluation approaches (74%). Among respondents who evaluate LDs (n = 345), 63% would definitely or probably begin or continue using APOL1 testing in the next year, however, few use APOL1 testing routinely (4%) or on a case-by-case basis (14%). Most did not know the right clinical scenario to order APOL1 testing (59%), but would use educational materials to counsel AA LDs about APOL1 testing (97%). DISCUSSION: Although physicians were highly supportive of APOL1 genetic testing for AA LDs, few physicians use APOL1 testing. As more physicians intend to use APOL1 testing, an ethical framework and clinical decision support are needed presently to assist clinicians in clarifying the proper indication of APOL1 genetic testing.