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Advances 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.
This review aims to provide an overview of barriers and facilitators to genetic service delivery models to inform future service delivery.
We conducted a scoping literature review of the evidence to more fully understand barriers and facilitators around the provision of genetic services.
There 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.
The 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.
Advances in diagnostic testing and treatment options for genetic conditions have led to increased demand for genetic services in the United States. The gateway to genetic services is through multiple paths. For example, newborn screening programs test all infants shortly after birth for a variety of genetic conditions. Other avenues include clinical diagnosis from a broad array of specialists, such as neurologists, oncologists, and geneticists. We sought to understand how genetic services are provided and identify the most cost-effective methods of meeting growing needs for services. Understanding the current delivery models being used can help strengthen the long-term follow-up of individuals identified with genetic conditions and, ultimately, improve outcomes for patients and families.
The goal of this study is to identify evidence from the literature regarding the challenges and potential solutions to improve service delivery models. We sought to understand the following research questions: (1) What are the current practice methods and models for genetic services? (2) What are the barriers or challenges presently being encountered that impede the provision of timely genetic services? and (3) What are the best practices, lessons learned, and service offerings that can inform future efforts?
We conducted a series of 3 iterative literature searches with increasing specificity of search terms. The searches enabled the research team to amass a broad base of literature related to genetic service models spanning from genetic services delivered in early infancy, as part of newborn screening, to services delivered in adulthood, with the onset of health conditions such as cancer. This was intended to explore models that may have been implemented successfully in other health areas or populations that could potentially be of interest for application or adoption in the United States. Search parameters were consistent in all 3 searches (
In total, 2 researchers reviewed all search results for initial inclusion. Researchers independently reviewed each abstract and made notations related to reported challenges and potential solutions regarding the delivery of genetic services. These notations guided inclusion and exclusion decisions. Researchers reviewed each other’s notations, discussed any areas of disagreement, and ultimately came to a consensus on whether the article should be obtained and included in the review. Full-text articles were obtained for all search results that met these initial criteria; each article was reviewed, and themes were extracted.
English
2010-2020
United States and international
PubMed
Embase
PsycINFO
Web of Science (includes Science Citation Index Expanded, Social Sciences Citation Index, Conference Proceedings Citation Index-Science, and Conference Proceedings Citation Index-Social Science and Humanities)
Genetics AND service delivery OR model
Genetic(s) service(s) provision OR genetic(s) service(s) delivery OR genetic(s) service(s) delivery model(s) OR genetic health care service(s) delivery OR genetic(s) support delivery OR genetic(s) support model(s) OR genetic(s) service(s) delivery structure OR genetic(s) services delivery system OR genetic(s) delivery of health care OR genetic counseling services OR genetic diagnostic services
Pediatric genetic counseling OR newborn screening follow-up AND genetic(s) service(s) provision OR genetic(s) service(s) delivery OR genetic(s) service(s) delivery model(s) OR genetic health care service(s) delivery OR genetic(s) support delivery OR genetic(s) support model(s) OR genetic(s) service(s) delivery structure OR genetic(s) services delivery system OR genetic(s) delivery of health care OR genetic counseling services OR genetic diagnostic services
The search yielded 187 unique abstracts or references (
After an initial review, 93 articles related to genetic service models from across the 3 searches were selected for a full-text review. Three researchers categorized the articles by theme together and carried out full-text reviews.
Number of articles selected to be reviewed from search results.
Search | References in search results (n=187), n (%) | Mention of challenges in abstract/title (n=8), n (%) | Mention of solutions in abstract/title (n=85), n (%) | Mention of challenges and solutions in abstract/title (n=19), n (%) | Number of articles retrieved for full-text review (n=112), n (%) |
Search 1: broad | 90 (48) | 2 (25) | 44 (52) | 14 (74) | 60 (54) |
Search 2: genetic services specified | 67 (36) | 3 (38) | 31 (37) | 5 (26) | 39 (35) |
Search 3: pediatric | 30 (16) | 3 (38) | 10 (12) | 0 (0) | 13 (12) |
Number of articles by theme.
Category | Number of articles reviewed for solutions | ||
|
Telegenetics (n=37), n (%) | Training, education, and awareness (n=34), n (%) | Infrastructure/workflow (n=36), n (%) |
Search 1: broad | 23 (62) | 18 (53) | 15 (42) |
Search 2: genetic services specified | 2 (5) | 5 (15) | 7 (19) |
Search 3: pediatric | 12 (32) | 11 (32) | 14 (39) |
The shortage of genetics professionals coupled with a rapidly growing need has been described as one of the biggest challenges facing the field [
In a survey of state newborn screening coordinators within the Southeast Regional Newborn Screening and Genetics Collaborative, close to half of the respondents indicated that the adequacy of the number of genetic counselors, dietitians, and medical or biochemical geneticists was minimal to insufficient [
However, as the need for these professionals continues to grow, the number of clinical geneticists entering the field is decreasing, with approximately 50% of medical genetics residency positions unfilled each year [
Two of the main challenges related to the delivery of genetic services were the time intensiveness of providing genetic counseling and wait times for appointments. Despite the fact that genetic service delivery models have changed over the years and fewer visits per patient are common, this is not the case for all areas of genetic counseling; genetic counseling continues to be a time- and resource-intensive process [
Several studies have explored the delivery of genetic services by nongenetics professionals and the resulting challenges and impacts on patients [
Although primary care providers are well positioned to recognize whether genetic tests or referral to genetic counseling is appropriate, there are still gaps in identifying the need for genetic services [
Patients can experience adverse outcomes from delivery of services by nongenetics providers. A web-based survey and structured telephone interview with genetic counselors revealed patients’ negative outcomes on receiving genetic services from nongenetics professionals in Minnesota. These outcomes included adverse psychosocial effects, medical mismanagement, inadequate counseling, negative shifts in attitudes toward medical providers, and unnecessary use of resources [
There are inherent challenges related to difficulties in implementing, sustaining, and scaling alternative delivery models [
The use of telehealth practices in the field of genetics, often referred to as telegenetics, has increased steadily in the past decade. Most often, this is through the use of video-based technology, although phone-based delivery of services to patients has also been used. A landscape review article by Terry et al [
Those who have used telegenetics to deliver services to patients indicate that it allows providers to see more patients, reduces wait time, and improves costs [
A mini-review by Buchanan et al [
Outcomes reported through telegenetics are fairly well documented, with most focusing on the delivery of telegenetic counseling. When compared with baseline scores or in-person genetic service delivery, most patients reported reduced anxiety and high levels of knowledge [
Another possible option for improving the efficiency of genetic services is the delivery of genetic counseling services through a group model. Two studies compared group counseling with individual counseling [
In this model, primary care providers have access to specialty providers to gain knowledge regarding care and monitoring of patients with special health care needs. Much of this work has been patterned after the Extension for Community Healthcare Outcomes model. This approach is gaining traction in the field of genetics [
In addition to telegenetics, the use of a team-based or collaborative approach has been suggested as an alternative genetic service delivery model [
Other studies have discussed a partnership model between genetic counselors and physicians in oncology [
One study in Hong Kong used a new model to provide clinical genetic services [
Partnership models with other health professionals, such as social workers and psychologists, also emerged as potential models for patient-centered genetic care. Telfair argues that social work education should include the basics of genomics because social workers may play a large role in genetic counseling, noting their ability to ensure that clients have access to counseling and testing [
With genetics and nongenetics professionals alike, training and educational resources were indicated as needs [
Another approach to the delivery of genetic services is to embed genetic services or genetic counselors into nongenetic clinical practices. In 2012, Battista et al [
One study assessed the attitudes and barriers of incorporating a genetic counselor into a cystic fibrosis clinic in New York [
This model has been translated into and tested in multiple clinical settings, including cancer care. In a gynecologic oncology clinic in Ohio, a higher number of patients were referred for genetic consultation after changing to a genetics-embedded model; referrals increased from 21% to 44% of patients [
The use of genetic counseling assistants (GCAs) has also been explored as a solution to the shortage of genetic counselors. Pirzadeh-Miller et al [
In a recent survey, members of the NSGC responded to a survey regarding the role of GCAs and the impact they may have on the genetic counseling profession [
A handful of studies described various technologies that are being implemented to support the delivery of genetic services. Flannery [
Kearney et al [
A few recent papers explored how to best implement or evaluate the use of alternate service delivery models. For example, Chou et al [
Other quality improvement initiatives have underscored the potential for new and innovative frameworks or learning collaboratives to address existing shortcomings and challenges in genetic service delivery. Russ et al [
Patient-to-provider telegenetics
Group genetic counseling
Use of genetic counseling assistants
Use of health technologies and patient educational tools
Implementation and evaluation of alternate service delivery models
Patient-to-provider telegenetics
Use of health technologies and patient educational tools
Implementation and evaluation of alternate service delivery models
Embedding genetic counselors within clinical settings
Provider-to-provider telegenetic consultation
Partnership models between genetics and nongenetics providers
Training and educational resources
Use of health technologies and patient educational tools
Implementation and evaluation of alternate service delivery models
Use of genetic counseling assistants
Implementation and evaluation of alternate service delivery models
The literature review pointed out several challenges that are currently facing the field of genetics. Those that cause the most concern for access to genetic services are the limited number of genetics specialists available to meet the growing demand for services and the long wait times needed to get appointments. However, several possible solutions highlighted in this literature review could be implemented to address these challenges.
The use of telehealth is one of the main ways to increase access to genetic services. On the basis of the literature review, there is ample evidence to support the use of telehealth. Several challenges can be addressed through the use of telehealth. First, because of the vastness of the United States and the dearth of genetic service providers, each of the genetic services centers serves a large catchment area. Thus, there are geographic barriers to access to care. Telehealth can help alleviate these barriers. Second, many states have a large Spanish-speaking population. However, there is a shortage of Spanish-speaking providers. Through telehealth, bilingual providers can expand their reach. In addition, telehealth can facilitate the use of remote translation services. Finally, there is a nationwide shortage of genetic service providers across the continuum. Telehealth expansion can help with workforce issues by obviating the need for staff to travel to multiple locations. In addition, telehealth can help with load-balancing staff across locations.
Increasing the use of telehealth services, however, may require additional assistance or planning. Other needs related to the expansion of telehealth may emerge. For example, providers may need access to training opportunities, to purchase equipment, or to feel prepared to implement telehealth. Support for training can come through existing resources, such as those provided by Telehealth Resource Centers [
In addition to telehealth, there are a few possible solutions related to clinical workflow that may improve access to genetic services. The use of GCAs has been rated favorably in many of the studies included in the literature review. For high-volume clinics, another consideration to improve clinic flow could be the use of group genetic counseling for low-risk populations followed by an individual in-person or telephone session. Another possibility is the use of patient education tools to assist with the amount of time genetic counselors spend with patients individually.
Given that fewer genetics professionals are entering the field and the current workforce issues, there is a need to build genetics knowledge and expertise among nongenetics professionals. This can be accomplished by using one or more possible approaches that were revealed during the literature review. Partnership models were used to expand access to genetic services in collaboration with nongenetics professionals, sometimes through telehealth. These solutions allow patients and families to access a genetics specialist and build relationships with nongenetics providers, which enhances their expertise. This could be accomplished through outreach to primary care settings of existing patients who see a genetics professional. Similarly, provider-to-provider telegenetic consultation is a strategy that can be employed to pair genetics providers with nongenetics providers. Through consultation with experts, nongenetics professionals gain a better understanding of their patients and are better able to care for their unique needs. Both these approaches would also help to address the noted challenges of nongenetics providers delivering services without the support of a genetics specialist (eg, ordering the wrong genetic test or panel).
Another possible solution to improve the knowledge and expertise of nongenetics professionals is to embed genetics providers within primary care settings. Typically, genetic counselors are hired to be part of primary care settings to assist with referrals and provide long-term support to patients. This approach, though, may be more challenging to implement, given there is still an insufficient number of genetic counselors, although the field is growing. It may also be more difficult, given that the state does not have the authority to direct how primary care providers structure their office staff.
The literature review illuminated the challenges and identified possible solutions that could be implemented to improve the delivery of genetic services. Options that include telehealth applications may be the most straightforward and immediate option for genetic centers to pilot. However, a more long-term investment will be to complement telehealth models with the education of nongenetics professionals. Given the likely continued shortage of providers in the field of genetics, a transdisciplinary approach will be needed to build the expertise of primary care providers and other health care professionals to best serve the needs of patients and families.
artificial intelligence
genetic counseling assistant
National Society of Genetic Counselors
The authors appreciate the support, help, and guidance from the State Department of Health involved in this work.
MR and SH conceived the study design. All authors reviewed the search terms. RM and SH collected articles, and MR, RM, DT, and SH analyzed and interpreted the data. MR, RM, DT, and SH drafted, critically reviewed, and approved the submission of the manuscript.
None declared.