Provision Of Genetic Services Research Articles

"Protection for the public, better use of resources and clearer lines": Interviews with genetic counselors and their colleagues on the need for regulation in Quebec.

In Canada, the field of genetic counseling is rapidly evolving alongside the increasing integration of and demand for genetics in healthcare practice. In tandem, there is a growing body of literature advocating for the regulation of genetic counseling, as legal recognition can protect patients from potential risk of harm and provide counselors with support by legally defining their roles and duties. However, there is a need for empirical qualitative research regarding the risks and challenges associated with the current lack of regulation to help inform these discussions. This article presents findings from 23 interviews with genetic counselors and their professional healthcare colleagues in Quebec. Themes were identified via interdisciplinary social scientific and legal content analysis. Notably, all participants were in favor of regulation, for varied reasons. Participant responses highlighted legal, organizational, and structural risks and challenges associated with the lack of legal recognition. First, the lack of role clarity creates issues with genetic counselors' working relationships and public recognition. Second, the autonomy of practitioners varies significantly, raising risks of liability and clinical preparedness when counselors have high autonomy or perform controlled acts. Third, the lack of recognition ultimately exacerbates structural strains on delivery and access to care. Results indicate that legal recognition stands to foster safer and more efficient provision of genetics services by increasing public awareness, instituting title protection and accountability mechanisms, clarifying professional scope, and mitigating liability risks. To the best of our knowledge, this is the first qualitative study to bring practicing stakeholders from across genetics services to the discussion on the lack of regulation of genetic counseling. Findings support the continued pursuit of legal recognition in Quebec and can inform similar initiatives in other jurisdictions.

Pilot Trial of Streamlined Genetic Education and Traceback Genetic Testing in Prostate Cancer Survivors.

Germline genetic testing is recommended for men with metastatic or high-risk prostate cancer to inform treatment and risk management for other cancers and inform genetic testing in at-risk relatives. However, relatively few patients with prostate cancer undergo genetic testing. Given the low rate of testing and increasing demands on genetic service providers, strategies are needed that reduce barriers to testing while conserving genetic counseling resources. The primary goal of this study was to determine whether a proactive and streamlined "traceback" approach could yield increased genetic testing participation among prostate cancer survivors. We randomized 107 survivors of metastatic and high-risk prostate cancer to streamlined testing (ST) versus enhanced usual care (EUC). ST participants were proactively provided with print genetic education materials and the option to proceed to genetic testing without pre-test genetic counseling. EUC participants were sent a letter from their physician advising them of their eligibility for genetic testing and recommending they schedule genetic counseling. The primary outcome was genetic testing participation. Secondary outcomes were distress, knowledge, decision satisfaction, and regret. In the ST group, 41.5% of participants completed genetic testing compared with 27.8% in the EUC group. After adjusting for education and marital status, the odds of testing were more than twice as high for the ST group as for the EUC group (odds ratio, 2.57; 95% CI, 1.05-6.29). The groups did not differ on any of the psychosocial outcomes at the 3-month follow-up. Proactive outreach paired with streamlined genetic testing delivery may be a safe, effective, and resource-efficient approach to facilitate traceback genetic testing in prostate cancer survivors.

Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.

Genomic technologies are now utilized for the genetic diagnosis of vascular anomalies. This provides the opportunity for genetic counselors to make a significant contribution to patient care for this complex disease. The aim of this study was to explore Australian healthcare professionals' perspectives on the relatively recent integration of molecular diagnostic testing for vascular anomalies, with or without genetic counseling support. Nine semi-structured interviews were conducted with Australian healthcare professionals involved in the provision of care for individuals with vascular anomalies. Thematic analysis identified six themes: (1) Molecular diagnosis is beneficial; (2) psychosocial needs can motivate families to pursue a molecular diagnosis; (3) molecular genetic testing for vascular anomalies is complex; (4) genetic service provision is not a one size fits all; (5) a client-centered approach for genetic service provision can go a long way; and (6) the value of genetic counselors. Based on our findings, implementation of a vascular anomalies genetic diagnostic program inclusive of genetic counseling may be challenging, yet such programs are likely to benefit both patients and their families, as well as healthcare professionals. As this paradigm shift unfolds, genetic counselors have an opportunity to contribute to the vascular anomaly field by educating healthcare professionals and patients, by participating in multidisciplinary clinics to support complex cases and by raising awareness regarding their practice and potential contributions.

Critical components of genomic medicine practice for non-genetics healthcare professionals: Genetic counselors' perspectives and implications for medical education.

Genetic services are increasingly provided by non-genetics healthcare professionals (NGHPs) with minimal formal training in genetics/genomics. Research demonstrates gaps in knowledge and clinical practices in genetics/genomics among NGHPs, but there is a lack of consensus on the specific knowledge needed by NGHPs to effectively provide genetic services. As clinical genetics professionals, genetic counselors (GCs) have insight into the critical components of genetics/genomics knowledge and practices needed by NGHPs. This study explored GCs' beliefs regarding whether NGHPs should provide genetic services and identified GCs' perceptions of the components of knowledge and clinical practice in genetics/genomics that are most critical for NGHPs providing genetic services. Two hundred and forty GCs completed an online quantitative survey with 17 participating in a follow-up qualitative interview. Descriptive statistics and cross-comparisons were generated for survey data. Interview data were analyzed using an inductive qualitative method for cross-case analysis. Most GCs disagreed with NGHPs providing genetic services, but beliefs varied widely, ranging from disagreement due to perceived gaps in knowledge or clinical skills to acceptance of NGHPs providing genetic services due to limited access to genetics professionals. Across survey and interview data, GCs endorsed the interpretation of genetic test results, understanding implications of results, collaboration with genetics professionals, knowledge of the risks and benefits to testing, and recognizing indications for genetic testing as critical components of knowledge and clinical practice for NGHPs. Several recommendations for improving the provision of genetic services were provided by respondents including educating NGHPs to provide genetic services through case-based continuing medical education and increasing collaboration between NGHPs and genetics professionals. As GCs are healthcare providers with experience and vested interests in educating NGHPs, their perspectives can help inform the creation of continuing medical education to ensure patients' access to high-quality genomic medicine care from providers of varying backgrounds.

Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review.

The MENA region is disproportionately affected by genetic disease. The aim of this research is to scope the region for evidence of genetic services and public health interventions to identify geographic gaps, and to provide a descriptive overview of interventions to identify knowledge gaps. This study is conducted as a scoping review and follows the Arksey & O'Malley scoping review framework. Seventy-six articles spanning 16 MENA nations met inclusion criteria. Studies included interventions in the form of genetic service provision (n=28), as well as comprehensive programs including pilot programs (n=7), community-based genetics programs (n=6) national-level prevention programs (n=18), and national-level mandatory programs (n=17). There is an imbalanced response to genetic disease burdens across the MENA region. More research is warranted where interventions are scarce, particularly to inform development of pilot community-based programs. There is also a need for better monitoring and evaluation of existing nation-wide programs.

EP479: Primary care providers’ use of genetic services in the Southeast United States: Barriers, facilitators, and strategies

eP479: Primary care providers’ use of genetic services in the Southeast United States: Barriers, facilitators, and strategies

Primary Care Providers' Use of Genetic Services in the Southeast United States: Barriers, Facilitators, and Strategies.

Collectively, genetic diseases are not that rare, and with increasing availability of genetics-informed healthcare management, primary care providers (PCPs) are more often asked to screen for or provide genetic services. Previous studies have identified barriers that impact PCPs' ability to provide genetic services, including limited knowledge, training, and time/resources. This study set out to identify specific barriers limiting genetics service provision by PCPs within the Southeastern Regional Genetics Network (SERN) and resources that would help eliminate those barriers. PCPs were recruited through provider networks and invited to participate in semi-structured interviews, conducted via Zoom, recorded, and transcribed verbatim. Interview transcripts were independently coded by 2 coders using MAXQDA software. Thematic analysis was conducted. Eleven interviews were conducted. Three predominant themes emerged from the data regarding factors impacting use of genetic services: system-wide factors, provider-specific factors, and patient factors. System-wide barriers included a lack of genetics providers and logistic challenges, which led to some PCPs coordinating referrals with other specialists or independently managing patients. Regarding provider-specific barriers, PCPs reported lack of genetics knowledge making referrals challenging. When possible, many PCPs contacted genetics providers for assistance. When not possible, some PCPs reached out to other colleagues or specialists for guidance. Patient-specific barriers included concerns or lack of information regarding genetics and unmet social needs. Many PCPs provided additional education regarding genetics appointments or testing benefits to their patients. Assistance from genetic counselors, electronic medical record systems that support referral to genetics, prior experience referring to genetics, established communication channels with genetics professionals, and highly motivated patients all facilitated improved collaboration with genetic services. PCPs provided suggestions for future resources to support interactions with genetics, including clear referral guidelines, increased access to genetics providers, improved test ordering processes, increased access to genetic education, and communication systems. PCPs face barriers at 3 different levels when engaging with genetic services: systems, providers, and patients. This study identified strategies that PCPs use to address these barriers, which are dependent on individual resources and practice settings. These strategies demonstrate resourcefulness in working to incorporate genetics into clinics operating at maximum capacity. By targeting barriers that uniquely impact providers, systems, and patients, as well as building upon strategies that PCPs are already using, medical providers can support PCPs to help with the provision of genetic services.

Genetic counseling, virtual visits, and equity in the era of COVID-19 and beyond.

Overnight, as a result of the COVID‐19 pandemic, telehealth rapidly transitioned from limited application to widespread implementation. The field of genetic counseling was well positioned to make this transition to virtual care since there is generally less of a need for patients to be seen in‐person for physical exams or urgent care. Going forward, virtual visits will presumably become a mainstay in the provision of genetic services and it is anticipated that clinics will adopt “hybrid” models with both in‐person and virtual visit options. This commentary highlights the successes and challenges in the rapid implementation of virtual visits, focusing on who has benefited versus who has been challenged or left behind. We also discuss genetic testing considerations, including the additional steps required for patients and clinicians when testing is ordered outside of the clinical setting, which can result in delays or a lack of testing altogether. Future research considerations are presented to address the needs among the most vulnerable and help ensure equitable access and benefit.

Opportunities and barriers for genetic service delivery in Kenya from a health personnel perspective.

Genetic counselling and testing are essential health services for the management of heritable diseases. However, in low-and-middle income countries like Kenya, genetic counsellors are not yet a licenced profession, and there is limited availability of and access to genetic testing. This study aimed to uncover opportunities and barriers for genetic service delivery in the Kenyan healthcare system from the perspectives of those who provide genetic testing and/or genetic counselling. Participants included Kenyan health personnel who deliver genetic services. This was a qualitative study that collected data via semi-structured one-on-one interviews and analyzed it using inductive thematic analysis. Participant demographics and characteristics of clinical genetic service provision were collected using a survey and results summarized using descriptive statistics. Themes revealed during analysis were compared to the clinical characteristics of genetic service provision to inform the opportunities and barriers. Fifteen interviews were conducted in total. Thematic analysis indicated that participants believed that the barriers facing genetic service delivery were linked to three themes: (1) education and training, (2) costs, and (3) counselling challenges. The opportunities for genetic service delivery were linked to four themes: (1) demand, (2) education and training, (3) encouraging a multidisciplinary approach to care, and (4) enhancing laboratory infrastructure. These findings are crucial for the development of a national evidence-informed and culturally appropriate model for genetic service delivery.Supplementary InformationThe online version contains supplementary material available at 10.1007/s12687-021-00532-5.

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Development and evaluation of an online, patient-driven, family outreach intervention to facilitate sharing of genetic risk information in families with Lynch syndrome

BackgroundIdentifying at-risk relatives of individuals with genetic conditions facilitates ‘cascade’ genetic testing and cancer prevention. Although current standards of care give mutation-positive (index) patients the responsibility of sharing genetic risk...

Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review.

BackgroundAdvances in diagnostics testing and treatment of genetic conditions have led to increased demand for genetic services in the United States. At the same time, there is a shortage of genetic services professionals. Thus, understanding the models of service delivery currently in use can help increase access and improve outcomes for individuals identified with genetic conditions.ObjectiveThis review aims to provide an overview of barriers and facilitators to genetic service delivery models to inform future service delivery.MethodsWe conducted a scoping literature review of the evidence to more fully understand barriers and facilitators around the provision of genetic services.ResultsThere were a number of challenges identified, including the limited number of genetics specialists, wait time for appointments, delivery of services by nongenetics providers, reimbursement, and licensure. The ways to address these challenges include the use of health information technology such as telehealth, group genetic counseling, provider-to-provider education, partnership models, and training; expanding genetic provider types; and embedding genetic counselors in clinical settings.ConclusionsThe literature review highlighted the need to expand access to genetic services. Ways to expand services include telehealth, technical assistance, and changing staffing models. In addition, using technology to improve knowledge among related professionals can help expand access.

Efforts of diversity and inclusion, cultural competency, and equity in the genetic counseling profession: A snapshot and reflection.

Like its peer health professions, the genetic counseling field recognizes the need for and value of diversity, inclusion, cultural competency, and equity (DICE). However, despite decades of diversity initiatives, minimal gains in the percentage of genetic counselors with minority identities have been realized. In order to gather information about DICE efforts, two surveys were created and distributed to genetic service providers, trainees, and genetic counseling program faculty yielding a total of 76 responses. Additionally, a literature scan was performed to gain an understanding of past and ongoing DICE efforts in the career. Three emerging domains resulted from quantitative and qualitative analysis of the submitted data: (1) Categories of DICE Projects, (2) Parties Carrying Out DICE Projects, and (3) What is Missing? Overall, inclusion efforts are notably underrepresented among DICE projects. Also, DICE efforts are generally under-supported, unfunded, and under-recognized as work-related responsibilities. To enhance DICE within the genetic counseling profession, we recommend developing additional research and projects focused on career inclusion and equity, implementing policies requiring DICE training for leaders within the field, encouraging project evaluation and outcomes dissemination, and creating a well-maintained web-based centralized repository for DICE resources.

The Provision of Genetic Testing and Related Services in Quebec, Canada

BackgroundResearch in the field of genomics and genetics has evolved in recent years and so has the demand of consumers who are increasingly interested in genomic prediction of diseases and various traits. The aim of this study is to identify genetic service delivery models, policies governing the use of genomics medicine, and measures to evaluate genetic services in the province of Quebec, Canada.MethodsAn ad hoc questionnaire was designed and administered online in 2017 to healthcare workers with good knowledge or experience in the provision of BReast CAncer genes 1 and 2 (BRCA1/2), Lynch syndrome, familial hypercholesterolemia, inherited thrombophilia genetic tests, engaged in policy planning or evaluation of genetic services. A quali-quantitative analysis of the survey results was performed.ResultsThirty professionals participated in the study. The delivery models are classified in five categories according to the leading role of healthcare professionals in patient care pathways: i) the geneticist model; ii) the primary care model; iii) the medical specialist model; iv) the population screening program model; and v) the direct-to-consumer model. Barriers to genetic services are the coverage of genetic tests by the publicly funded healthcare system, the availability of qualified personnel, and the number of genetic centers. Regulatory oversight concerning the provision of genetic services appears to be insufficient.ConclusionsIntegration between genetics and the overall healthcare system in Quebec is in an early phase. Current models of genetic services require good level of genetic knowledge by all medical specialists, collaboration among different healthcare personnel, and work redistribution. The proper implementation of genomics into healthcare can be achieved through education and training, proper regulatory oversight, genomic policies, and public awareness.

Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.

Despite clinical guidelines, programs conducting population-based screening and genetic service delivery for hereditary cancer prevention and control are rare in practice. We interviewed individuals (n=13) instrumental in implementing seven unique clinical programs conducting either universal tumor screening for Lynch Syndrome or routine family history screening and provision of genetic services for hereditary breast and ovarian cancer in the United States. To characterize determinants of readiness to implement population-based cancer genetic service delivery models, interviews and deductive codes drew on Weiner's theory of organizational readiness for change. Qualitative analysis identified themes across programs. The degree to which organizational stakeholders valued moving to a population-based genetic service delivery model depended on the existence of aligned clinical guidelines at the time of program implementation. However, judgments of implementation capacity within the organization, particularly with respect to task demands and resource concerns, were more often barriers to readiness. Program champions were essential to facilitating readiness, frequently taking on substantial uncompensated work. These data suggest that developing interventions targeting change efficacy and cultivating practice change champions may be two promising ways to increase uptake of population-based hereditary cancer screening and genetic service delivery in clinical practice.

Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing.

BackgroundRecent progress in genome data collection and analysis technologies has led to a surge of direct-to-consumer (DTC) genetic testing services. Owing to the clinical value and sensitivity of genomic data, as well as uncertainty and hearsay surrounding business practices of DTC genetic testing service providers, DTC genetic testing has faced significant criticism by researchers and practitioners. Research in this area has centered on ethical and legal implications of providing genetic tests directly to consumers, but we still lack a more profound understanding of how businesses in the DTC genetic testing markets work and provide value to different stakeholders.ObjectiveThe aim of this study was to address the lack of knowledge concerning business models of DTC genetic testing services by systematically identifying the salient properties of various DTC genetic testing service business models as well as discerning dominant business models in the market.MethodsWe employed a 3-phased research approach. In phase 1, we set up a database of 277 DTC genetic testing services. In phase 2, we drew on these data as well as conceptual models of DTC genetic testing services and iteratively developed a taxonomy of DTC genetic testing service business models. In phase 3, we used a 2-stage clustering method to cluster the 277 services that we identified during phase 1 and derived 6 dominant archetypes of DTC genetic testing service business models.ResultsThe contributions of this research are 2-fold. First, we provided a first of its kind, systematically developed taxonomy of DTC genetic testing service business models consisting of 15 dimensions in 4 categories. Each dimension comprises 2 to 5 characteristics and captures relevant aspects of DTC genetic testing service business models. Second, we derived 6 archetypes of DTC genetic testing service business models named as follows: (1) low-cost DTC genomics for enthusiasts, (2) high-privacy DTC genomics for enthusiasts, (3) specific information tests, (4) simple health tests, (5) basic low-value DTC genomics, and (6) comprehensive tests and low data processing.ConclusionsOur analysis paints a much more complex business landscape in the DTC genetic testing market than previously anticipated. This calls for further research on business models and their effects that underlie DTC genetic testing services and invites specific regulatory interventions to protect consumers and level the playing field.

Optimizing efficiency and skill utilization: Analysis of genetic counselors' attitudes regarding delegation in a clinical setting

This study assessed genetic counselors' (GCs) perceptions of delegation as a tool to increase workforce efficiency and help meet the current gap between the number of genetic service providers and the number of patients. GCs were recruited to participate via an online survey that assessed activities (categorized as typical genetic counseling, administrative, or professional development) performed by a clinical genetic counselor. Respondents indicated which activities represent their largest time consumers, their willingness to delegate these activities, and barriers to and perceived outcomes of delegation. Overall, respondents indicated that they spend 25% of their time performing administrative activities that they would largely be willing to delegate; however, respondents were generally unwilling to delegate many typical genetic counseling and professional development activities, citing concerns regarding accuracy and liability, and highlighting the belief that these activities constitute the core role of a genetic counselor. Respondents indicated that delegation of time-consuming administrative activities would increase access to genetic services and improve job satisfaction. Additionally, differences were identified among clinical specialties regarding which activities were selected as top time consumers, indicating that potential targets of re-allocation of time or delegation may be variable. This research indicates a need to reduce the number of administrative tasks in which GCs are directly involved to re-allocate time toward core responsibilities, direct patient care, and professional development, the result of which is more efficient use of the GC skill-set.

Challenges and opportunities for effective delivery of clinical genetic services in the U.S. healthcare system.

Demand for clinical genetics and genomics services is increasing. As discussed in this study, the clinical genetics and genomics workforce is small. How to meet the demand with a limited workforce requires innovation. Background data regarding the current state of clinical genetic services including volume of services and make-up of the clinical genetics workforce are presented. The study then identifies opportunities to increase access to clinical genetic service providers using new models of service and discusses examples of solutions which have been implemented in some practice settings. Creative uses of technology to increase providers' efficiency are highlighted. Clinical genetics service providers need to rise to the occasion and lead the transformation of clinical genetic service delivery. Many of the examples of solutions described in the study can be implemented by other providers now. Additionally, the described solutions may serve to inspire genetic providers to create their own new solutions, which should then be shared with the provider community.

Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

The impact of raw DNA availability and corresponding online interpretation services: A mixed-methods study.

Consumer access to third-party services to interpret raw DNA has raised concerns about downstream healthcare implications. This mixed-methods study set out to examine the extent to which genetic counselors have been contacted by consumers of third-party services and describe counselors' experiences with these "consumer" patients. Counselor views on the quality of information provided to consumers were also examined. Eighty-five genetic counselors completed an online survey, of which 22 completed in-depth telephone interviews. Survey and interview data were analyzed and combined using triangulation techniques. Over half (53%) of the survey respondents indicated they had been contacted by a patient following the use of a third-party raw DNA interpretation service. Among counselors contacted, 72% saw at least one patient. Counselors reported challenges unique to this patient population including overemphasis by patients on the validity of the data and patient resistance to information provided by the counselor. Preparation time burden and counselor inexperience and discomfort counseling these patients were additional challenges. Counselors expressed concern about the quality of the raw data and the clarity and usefulness of interpretation reports. Genetic counselors' experiences with consumer's use of third-party DNA interpretation services provide insight on the opportunities and challenges with the availability of raw DNA directly to consumers. Efforts to better support both consumers and genetic service providers are needed to maximize the effective translation of genome-based knowledge for population health.