Role Of Genetic Counseling Research Articles

OP315 - Developing role of genetic counselors in somatic gene therapy

OP315 - Developing role of genetic counselors in somatic gene therapy

Characterization of genetic counselor practices in inpatient care settings.

Rapid genomic testing is increasingly used in inpatient settings for diagnostic and treatment purposes. With the expansion of genetic testing in this setting, requests for inpatient genetics consultations have increased. There have been reports of genetic counselors working in inpatient care, though their specific roles are not well described. In this study, we characterized the roles of genetic counselors practicing in inpatient care settings in the United States and Canada. Genetic counselors were recruited via professional organization listservs to complete an online survey. The survey gathered information on participants' roles and workflow of inpatient genetics consultation services at their institution. Responses from 132 participants demonstrate that 50.4% of genetic counselors cover genetics consultations as needed or on a rotating schedule (34.6%). They practice in general pediatric (59.1%), neonatal (42.5%), cancer (28.3%), and/or prenatal (18.9%) specialties, among others. Participants reported working independently (16.1%) or with other providers (54.8%), including geneticists and other attending physicians. The workflow of genetics consultation services varies between institutions in the delivery of consults, members of the inpatient genetics consultation care team, and administrative support. Fifty percent of participants reported having no exposure to inpatients during graduate training, and 87.3% of participants reported receiving no institutional training for their inpatient role. This is the first study to describe roles of genetic counselors in inpatient care. It establishes a foundation for future research on inpatient genetic counseling and genetic counseling outcomes in inpatient services. As demand for genetics expertise in inpatient care grows, genetic counselors can be hired to serve inpatient populations alongside genetics and non-genetics providers.

Scope of practice distinctions based on primary work setting for genetic counselors in assisted reproductive technologies

ObjectiveTo elucidate the tasks within various work settings that assisted reproductive technologies (ART) genetic counselors believe to be within their scope of practice.DesignA survey was constructed and administered to genetic counselors who practice in the field of ART.SettingGenetic counselors were asked to self-identify with a primary ART work setting: genetic testing laboratory (preimplantation genetic testing, carrier screening, or both), in vitro fertilization clinic, gamete donor agency, telegenetic practice (either private practice or telemedicine company), or other.Patient(s)N/A.Intervention(s)N/A.Main Outcome Measure(s)The number of years of practice in ART, tasks performed within various ART work settings representing the reality or the ideal, and perception of understanding of the scope of practice by nongenetics colleagues.Result(s)The majority of respondents reported <10 years of experience in this field. There were differences in what was considered the scope of practice among the various work settings. ART genetic counselors believed that their scope of practice was not well understood by their nongenetics colleagues. They also reported differences between the actual duties performed and what they ideally believed would be within their job function.Conclusion(s)The genetic counseling specialty of ART is a new work setting for genetic counselors. There is a need for education regarding the various roles of genetic counselors in ART. Better definition of the appropriate duties for genetic counselors in the various ART work settings is needed to foster effective working relationships with their nongenetics colleagues and optimize patient care.

Pharmacogenomic (PGx) Counseling: Exploring Participant Questions about PGx Test Results.

As pharmacogenomic (PGx) use in healthcare increases, a better understanding of patient needs will be necessary to guide PGx result delivery. The Coriell Personalized Medicine Collaborative (CPMC) is a prospective study investigating the utility of personalized medicine. Participants received online genetic risk reports for 27 potentially actionable complex diseases and 7 drug–gene pairs and could request free, telephone-based genetic counseling (GC). To explore the needs of individuals receiving PGx results, we conducted a retrospective qualitative review of inquiries from CPMC participants who requested counseling from March 2009 to February 2017. Eighty out of 690 (12%) total GC inquiries were focused on the discussion of PGx results, and six salient themes emerged: “general help”, “issues with drugs”, “relevant disease experience”, “what do I do now?”, “sharing results”, and “other drugs”. The number of reported medications with a corresponding PGx result and participant engagement were significantly associated with PGx GC requests (p < 0.01 and p < 0.02, respectively). Our work illustrates a range of questions raised by study participants receiving PGx test results, most of which were addressed by a genetic counselor with few requiring referrals to prescribing providers or pharmacists. These results further support a role for genetic counselors in the team-based approach to optimal PGx result delivery.

A survey of U. S. state insurance commissioners concerning genetic testing and life insurance: Redux at 27.

Nearly three decades ago, scientists set out on one of the largest research endeavors in modern history-mapping the human genome. The research not only sparked new technologies and genetic tests, but also concomitant concerns regarding ethical, legal, and social implications of the technologies. These developments ultimately resulted in an expanded role for genetic counselors to educate consumers about the possible consequences of receiving genetic test results. In particular, many individuals undergoing testing worry that the resulting information could be used by social actors, such as life insurers, in harmful ways. Because life insurance is regulated at the state level, there is significant variability across the United States in laws and enforcement protecting consumers' genetic information. This article reports the results of a survey of U.S. state insurance commissioners regarding regulation of genetic testing and life insurance. The survey builds on a 1992 survey conducted by Jean E. McEwen et al. It returns to current U.S. state insurance commissioners to investigate changes in the climate surrounding genetic information use and risks of misuse within the insurance industry. In their 1992 survey, McEwen et al. found that: (a) genetic testing was not yet perceived to pose a significant problem for insurance rating, (b) life insurers had quite a bit of legal freedom to require and use genetic test results, and (c) insurance commissioners had received few consumers' complaints about the use of genetic information. Twenty-seven years later, our survey finds an increase in regulation protecting genetic information in insurance, but at a pace much slower than that of advances in new DNA technologies. This lag in policy to match technology increases potential risks for consumers. Our study further reveals certain inconsistencies in the letter of state law protecting consumers' genetic information and how state insurance commissioners apply that law. The study also shows that despite empirical evidence in the literature demonstrating consumer fear about genetic discrimination, consumers do not report these concerns to their state insurance commissioner. We suggest genetic counselors are key stakeholders who can help fill current gaps between consumers and the insurance industry.

Evolving Roles of Genetic Counselors in the Clinical Laboratory.

Genetic counselors (GCs) possess several core competencies that provide direct benefit in the clinical laboratory setting. Communication with clients about complex information such as test methodology or results and the skills of facilitation and translation of complex information were recognized as important skills early in the establishment of GCs in laboratories. The clinical expertise of GCs serves as the background and experience from which they facilitate complex laboratory cases. Early roles for GCs in the laboratory also included result reporting, case management, and test development. The scope of roles has broadened to include management, business development, education, telemedicine, research, and variant interpretation. With increasing value being placed on genetic counseling skills both in and outside of a clinical laboratory, the roles and positions of GCs will likely continue to expand.

Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.

Both genome sequencing (GS) and exome sequencing (ES) have proven to be revolutionary in the diagnosis of pediatric rare disease. The diagnostic potential and increasing affordability make GS and ES more accessible as a routine clinical test in some centers. Herein, I review aspects of rare disease in pediatrics associated with the use of genomic technologies with an emphasis on the benefits and limitations of both ES and GS, complexities of variant classification, and the importance of genetic counseling. Indications for testing, the role of genetic counselors in genomic test selection, and the diagnostic potential of ES and GS in various pediatric multisystem disorders are discussed. The neonatal population represents an important cohort in pediatric rare disease. Rapid ES and GS in critically ill neonates can have an immediate impact on medical management and present unique genetic counseling challenges. This work includes reviews of recommendations for genetic counseling for families considering genome-wide sequencing, and issues of access to genetic counseling that affect clinical use and will necessitate implementation of innovative methods such as online decision aids. Finally, this work will also review the challenges of having a child with a rare disease, the impact of results from ES and GS on these families, and the role of various support agencies.

Mainstreaming genetic counseling for BRCA testing into oncology clinics - Indian perspective.

BReastCAncer (BRCA) susceptibility genes BRCA1 and BRCA2 are mainly associated with hereditary breast and ovarian cancer (HBOC) syndrome and present an estimated 45%-65% cumulative lifetime risk of developing breast cancer and an 11%-39% risk of ovarian cancer. HBOC is also linked to triple-negative breast cancer (TNBC). BRCA1 mutations in TNBC are observed in 36% of women age <40 years and 27% of women age <50 years. In India, the prevalence of BRCA1/2 mutation varies from 2.9% to 38% among families with genetic predisposition toward hereditary cancers. With HBOC being linked to early-onset breast cancer and increased susceptibility to other cancers, early screening for BRCA mutations has become a pressing need. Though genetic counseling (GC) for BRCA mutation testing is common in most of the developed countries, India still faces several challenges in mainstreaming the same. Many barriers to effective GC for BRCA testing are unique to India. There is a dearth of trained geneticists which puts the pressure on oncologists to give GC for which they neither have the time or training. Presence of multiethnic/linguistic population acts as a major hindrance along the way toward development of robust predictive and effective GC models for BRCA testing. The current review discusses the need and benefits of GC in breast cancer prevention, through BRCA testing, from an Indian perspective. The functional framework of GC and the role of genetic counselors are discussed in detail. In addition, importance of GC training and role of a multidisciplinary team approach for mainstreaming pre- and post-BRCA test GC is highlighted.

Patient decision-making and the role of the prenatal genetic counselor: An exploratory study.

Despite much theory about how genetic counseling facilitates prenatal decision-making, there are limited data regarding patients' perceptions of the process and the role of the genetic counselor (GC). Our aim in this study was to explore patients' perceptions of their prenatal genetic counseling session, with a focus on their relationship with their GC and how factors inside and outside the session influenced their decision-making about amniocentesis. We performed a qualitative study with patients who had seen a GC after maternal serum screening revealed an increased risk for aneuploidy. Semistructured interviews were transcribed verbatim, and analyzed using a constant comparative method. To complement and triangulate with these data, we used a secondary quantitative measure-the 6-item Satisfaction With Decision-making (SWD) scale, and questionnaires completed by participants' GCs. Eleven patients participated and four predominant themes emerged from our data: (1) being unprepared; (2) recognizing responsibility for decision-making; (3) the burden of responsibility; and (4) the impact of support through affirmation. Despite the underlying tension within these themes, patients reported high satisfaction with their decisions (SWD mean score=28.5/30, range: 26-30). Patients perceived their GCs to be nonbiased yet supportive in the decision-making process. Patients described feeling affirmed, but not swayed in their decision.

Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder.

Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and many held beliefs about genetic evaluation that did not align with guidelines. Barriers were lack of insurance coverage for genetic evaluation/testing and long wait times to see geneticists. Pediatricians with beliefs aligned with guidelines and those aware of the role of genetic counselors were more likely to adhere to guidelines. Efforts to educate pediatricians are needed along with system level solutions regarding availability of geneticists and reimbursement for genetic testing.

A Commentary on Commercial Genetic Testing and the Future of the Genetic Counseling Profession

Commercial genetic testing laboratories are increasingly employing genetic counselors. As a result, the role of these or many genetic counselors is shifting from primarily direct patient counseling in clinics and hospitals to more laboratory-centered activities that involve case coordination, customer liaison, variant classification, marketing, and sales. Given the importance of these commercial entities to the genetic counseling profession, this commentary examines the current financial situation of four publicly traded, genetic testing companies. It also explores how the various roles of genetic counselors are likely to be affected by the financial pressures these companies face.

Genetic counselors on the frontline of precision health.

By enabling precise genetic diagnosis and treatment there is great potential for inexpensive, accurate, and widely accessible genomic information to transform health care and improve the general well-being of virtually every person. To maximize this potential, approaches to genetic counseling and the role of genetic counselors will need to adapt to fit changing clinical and commercial needs worldwide. This will require overcoming multiple challenges including an inadequate workforce; development and implementation of alternate models of service delivery; integration of new technologies to improve, extend, and expand services; and support for equitable education and counseling among all populations. Genetic counselors are aptly poised to take on these challenges. The result will be better informed patients and families more capable of utilizing genetic information appropriately, making autonomous decisions about their care, and modifying their approach to disease risk to actively contribute to their health. The contributors to this issue of Seminars discuss how key areas of genetic counseling need to evolve and how genetic counselors can play a role in shaping the future of precision health.

Genetic counseling: Growth of the profession and the professional

Growth of the profession of genetic counseling has gone hand-in-hand with professional development of individual genetic counselors. Genetic counseling has achieved most of the typical early milestones in the development of a profession. The profession is maturing at a time when the number of practitioners is predicted to vastly expand. The last two decades have seen a proliferation of genetic counselor roles and practice areas, and a distinct professional identity. It is likely that the next two decades will see an increase in educational paths, practice areas, and possibilities for professional advancement. How this maturation proceeds will be impacted by overall trends in healthcare, decisions made by international genetic counseling organizations, and thousands of individual decisions about career trajectories.

Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience.

With the increasing use of clinical genomics to guide cancer treatment and management, there is a rise in the identification of germline cancer predisposition syndromes and a critical need for patients with germline findings to be referred for surveillance and care. The University of Chicago Hematopoietic Malignancies Cancer Risk Team has established a unique approach to patient care for individuals with hereditary hematologic malignancies through close communication and coordination between our pediatric and adult programs. Dedicated program members, including physicians, nurses, genetic counselors, and clinical research assistants, screen individuals for cancer predisposition at initial diagnosis through survivorship, in addition to testing individuals with an established family history of a cancer predisposition syndrome. Sample procurement, such as a skin biopsy at the time of bone marrow aspirate/biopsy in individuals with a positive screen, has facilitated timely identification of clinical germline findings or has served as a pipeline for translational research. Our integrated translational research program has led to the identification of novel syndromes in collaboration with other investigators, which have been incorporated iteratively into our clinical pipeline. Individuals are referred for clinical assessment based on personal and family history, identification of variants in susceptibility genes via molecular tumor testing, and during evaluation for matched related allogeneic stem cell transplantation. Upon referral, genetic counseling incorporates education with mindfulness of the psychosocial issues surrounding germline testing at different ages. The training and role of genetic counselors continues to grow, with the discovery of new predisposition syndromes, in the age of improved molecular diagnostics and new models for service delivery, such as telemedicine. With the identification of new syndromes that may predispose individuals to hematologic malignancies, surveillance guidelines will continue to evolve and may differ between children and adults. Thus, utilizing a collaborative approach between the pediatric and adult oncology programs facilitates care within families and optimizes the diagnosis and care of individuals with cancer predisposition syndromes.

Seekers, Finders, Settlers, and Stumblers: Identifying the Career Paths of Males in the Genetic Counseling Profession.

Genetic counseling is a female-dominated profession, with 96% of counselors self-identifying as female. Research suggests gender diversification benefits healthcare professionals and the populations they serve. Therefore, this study explored how men choose a genetic counseling career, associations between career satisfaction and their career entry dynamics and experience levels, and differences due to experience level in how they decide on this profession. Twenty-five novice, experienced, or seasoned male counselors and 8 male genetic counseling students participated in semi-structured phone interviews. Interpretive content and cross-case analyses of interview data were informed by Simpson's "Seekers, Finders, and Settlers" theory describing career entry dynamics of men in non-traditional (i.e., female-dominated) fields. Results revealed 13 interviewees were Seekers, who initially knew they wanted a career in genetic counseling, actively chose the profession, and were satisfied with their decision. Eleven were Settlers, who had tried different, traditional jobs, with limited satisfaction before actively finding and choosing genetic counseling. Two were Finders, who discovered genetic counseling while in the career decision making process and made a passive choice to pursue it as they had no feasible, satisfactory alternative. Seven men fit a new category, we termed "Stumblers," who were in another career and satisfied, but changed to genetic counseling after happening to hear about it. Prevalent themes pertaining to participants' experiences in the career include desire for a multidisciplinary career; lack of a priori knowledge of genetic counselor roles; late exposure to the profession; and varied perceptions of being in a non-traditional career. There were few differences due to experience level and career satisfaction was high across the sample. Results suggest earlier exposure to the career and availability of detailed descriptions of its multidisciplinary nature may increase the number of males in the profession.

Patient Perspectives on Intimate Partner Violence Discussion during Genetic Counseling Sessions.

Intimate partner violence (IPV) is a major health concern in the United States (ACOG 2013). The World Health Organization (WHO) describes IPV as any physical, sexual, psychological harm by a current or former intimate partner (WHO 2016). Due to the psychosocial depth and nature of discussions within genetic counseling sessions, patients may disclose and/or discuss IPV as it relates to sexual well-being, reproductive and overall health. This study aims to assess the role for IPV screening, counseling and intervention in genetic counseling practice by investigating the incidence, experiences and attitudes about IPV among genetic counseling patients. Patients receiving genetic counseling at an urban metropolitan hospital were anonymously surveyed about experiences and perspectives on IPV as a topic of discussion during genetic counseling sessions. Among 60 eligible patients, 50 completed the survey (49 females, 1 male, of which, 5 identified as LGBT) ages 20 to 66. The incidence of IPV in this group was 16.0% (n=8). Majority of participants had never been asked about IPV by a healthcare provider (n=32; 64.0%), would have felt comfortable answering questions about IPV by their healthcare provider (n=34; 68.0%), and would have felt comfortable answering questions about IPV by their genetic counselor (n=39; 78.0%). Perspectives from all participants, notably those with IPV history, provided insights to the role of genetic counselors in areas for IPV screening and counseling training.

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13years of Clinical Experience in South Australia.

The role of genetic counselors in prenatal paternity testing has not been widely studied in the genetic counseling literature. In South Australia, the genetic counselors of the State's public sector clinical genetics service are the primary contact point for women seeking information and testing, also coordinating the testing process. This has provided the opportunity to review all prenatal paternity testing performed in the State over a 13year period and to consider the role played by the genetic counselor. We explored the reasons why women requested prenatal paternity testing and whether the genetic counselor was an appropriate health professional to facilitate this testing for women. The study had two parts, an audit of the clinical genetics files of 160 women who requested prenatal paternity testing between March 2001 and March 2014, and qualitative interviews of genetic counselors, clinical geneticists, obstetricians and social workers with involvement in this area. The audit determined that in 69.9% of cases the long-term partner was the father of the pregnancy, for 23.7% the short-term or other partner was the father and for 6.4% the paternity results were not known by the genetic counselor. For 45.5% of women whose long-term partner was excluded as the father, the women chose to have a termination of pregnancy. The results of the qualitative interviews yielded five major themes: accessibility of testing, role of the genetic counselor, social and relationship issues, decision making in pregnancy and emotional issues. We conclude that the genetic counselor is an appropriate health professional to facilitate prenatal paternity testing. Genetic counselors did not view their role as significantly different from a request for prenatal testing for another indication.

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.

The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.

Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders, How are Genetic Counselors Joining the Discussion?

Traditionally, the biotechnology and pharmaceutical industry (BPI) has focused drug development at the mass-market level targeting common medical issues. However, a recent trend is the development of therapies for orphan or rare disorders, including many genetic disorders. Developing treatments for genetic disorders requires an understanding of the needs of the community and translating genomic information to clinical and non-clinical audiences. The core skills of genetic counselors (GCs) include a deep knowledge of genetics and ability to communicate complex information to a broad audience, making GCs a choice fit for this shift in drug development. To date there is limited data defining the roles GCs hold within this industry. This exploratory study aimed to define the roles and motivation of GCs working in BPI, assess job satisfaction, and identify translatable skills and current gaps in GC training programs. The authors surveyed 26 GCs working in BPI in the United States; 79% work for companies focused on rare disorders. GC positions in BPI are growing, with 57% of respondents being the first GC in their role. GCs in BPI continue to utilize core genetic counseling competencies, though 72% felt their training did not fully prepare them for BPI. These data suggest opportunities for exposure to BPI in GC training to better prepare future generations of GCs for these career opportunities. GC satisfaction was high in BPI, notably in areas traditionally reported as less satisfying on the National Society for Genetic Counselors Professional Status Survey: salary and advancement opportunities. BPI's growing interest in rare disorders represents a career opportunity for GCs, addressing both historic areas of dissatisfaction for GCs and BPI's genomic communication needs.

Genetic Counselors in Startup Companies: Redefining the Genetic Counselor Role.

Genetic counselors (GCs) have recently begun moving into non-clinic based roles in increasing numbers. A relatively new role for GCs is working for startup companies. Startups are newly established companies in the phase of developing and researching new scalable businesses. This article explores the experiences of four GCs working at different startup companies and aims to provide resources for GCs interested in learning more about these types of roles. The article describes startup culture, including a relatively flat organizational structure, quick product iterations, and flexibility, among other unique cultural characteristics. Financial considerations are described, including how to understand and evaluate a company's financial status, along with a brief explanation of alternate forms of compensation including stock options and equity. Specifically, the article details the uncertainties and rewards of working in a fast-paced startup environment that affords opportunities to try new roles and use the genetic counseling skill set in new ways. This article aims to aid GCs in determining whether a startup environment would be a good fit, learning how to evaluate a specific startup, and understanding how to market themselves for positions at startups.