The shortage of genetics professionals coupled with a rapidly growing need has been described as one of the biggest challenges facing the field [1]. There is approximately 1 genetics professional per 300,000 individuals in the United States [2]. Radford et al [3] reported similar deficits in staffing, noting that 2500 certified genetic counselors practice in the United States, equating to 8.1 genetic counselors per 1 million population. Rural areas and certain states experience these shortages more profoundly [3,4]. Increased demand for genetics professionals is based on a few factors, including the growing number of conditions that can now be identified as having a genetic cause, affordability of testing technologies, and demand for genetic counselors in more diverse clinical settings [3,5].

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 [6]. One study related to newborn hearing loss reported that the deficit in the workforce has resulted in poor follow-up of patients. Al-Mulki and Todd [7] sought to explore staffing and loss to follow-up in newborns who did not pass hearing screening. The authors found that follow-up rates were higher when a full-time navigator position was filled [7].

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 [1]. In some areas, genetic counseling positions have been difficult to fill [8].

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 [1]. In a survey of cancer genetic counselors, 92% were spending fewer than 75 min for initial counseling, although recommendations suggest up to 3 hours [9]. Genetic counseling sessions have been reported to take longer when conducted by a genetics professional compared with another specialist [10]. Time was also mentioned in a study by Brierley et al [11], where nongenetics professionals required more time than they had available to perform genetic counseling and testing. In addition to the length of genetics appointments, several studies have discussed wait time as a significant barrier to accessing services, which is often linked to limitations in the workforce and geography [1,4,12].

Several studies have explored the delivery of genetic services by nongenetics professionals and the resulting challenges and impacts on patients [1,4,11,13-15].

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 [1]. In addition, nongenetics professionals do not always follow guidelines. This was indicated in one survey conducted in Florida that focused on pretest genetic counseling services for hereditary breast and ovarian cancer [15]. Another study reviewed 200 patients with breast or ovarian cancer who met the criteria for genetic testing. Lacking a referral from the attending oncologist was cited as the biggest barrier for 30% of the patients who did not receive adequate testing or counseling [16].

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 [13]. Another study invited genetic counselors from the National Society of Genetic Counselors (NSGC) Cancer Special Interest Group to submit cases of adverse outcomes of genetic counseling and testing performed by nongenetics professionals. The list included incorrect genetic tests ordered, misinterpretation of results, inadequate genetic counseling, unnecessary testing and surgery, distress, and false reassurance [11].

There are inherent challenges related to difficulties in implementing, sustaining, and scaling alternative delivery models [1,5]. Some of these challenges are because of logistical issues, including billing, reimbursement, required equipment and setup, and the inability to see the patient (ie, in the case of telephone counseling) [17]. Nonuniform delivery of services may be because of the varying state-level laws and license requirements for genetic counselors [2]. Others have described that alternative models have not been widely tested, and given the increasing role of technology, new approaches to training counselors will also need to be developed [6].

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 [12] found that many clinics in the Mid-Atlantic region had started using telegenetics to deliver services to patients. Clinics that had used telegenetics were often located in academic or other medical institutions with a focus on prenatal and cancer services. However, in-person counseling is still a prevalent method of genetic counseling delivery. In a web-based survey of members of the NSGC Familial Cancer Special Interest Group, the face-to-face pretest and posttest model was reported as the most commonly used (92.2%) [18].

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 [8,19-21]. In addition, patient satisfaction is high, with many studies citing benefits such as reduced travel time and increased convenience [22-28]. Most patients report being comfortable with using technology [22], although some still prefer in-person care, given possible technical problems or reduction in the quality of the interaction [24]. Those who are less in favor of telegenetics are often older patients [26].

A mini-review by Buchanan et al [23] identified models that use telephone genetic counseling at different points of care. This included pretest telephone counseling, posttest telephone counseling, and a model developed by a Dutch group, called DNA-direct, with a telephone pretest counseling model accompanied by mailed educational materials, followed by an in-person posttest consultation. Rayes et al [29] described the protocol for MAGENTA (MAking GENetic Testing Accessible), a national randomized controlled trial that will compare web-based genetic education and telephone genetic counseling for hereditary cancer genetic testing.

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 [22]. Telephone counseling has also reported positive outcomes [30], although one study found better outcomes for video- versus phone-based genetic counseling [31].

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 [32,33]. In both the studies, participants in each group reported high levels of satisfaction. Although participants in both the group and individual genetic counseling encounters reported significantly decreased patient anxiety, increased perceived personal control, decreased decisional conflict, and increased knowledge, those in the individual session reported a greater reduction in anxiety than those in the group session [32]. Woodson et al [34] described a group counseling model for an underserved population in Texas focused on women receiving counseling for hereditary breast and ovarian cancer [34]. Group genetic counseling was also reported to increase efficiency by decreasing the time spent per patient [23]. When asked to rate their preference for individual versus group counseling, however, most ranked individual counseling higher [35].

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 [36].

In addition to telegenetics, the use of a team-based or collaborative approach has been suggested as an alternative genetic service delivery model [37]. Kubendran et al [38] described the implementation of pediatric telegenetic services by a team comprising a geneticist, a pediatrician, and a genetic counselor. Patients reported high satisfaction with this team-based approach. A similar multidisciplinary approach was used in a pediatric metabolic practice for patients with inborn errors of metabolism [39]. This team consisted of metabolic geneticists, pediatric dietitians, clinical pharmacists, social workers, metabolic nurses, and genetic counselors who provide care and frequent follow-up to patients. An important feature that was highlighted as part of this model was the ability of the genetic counselor to build a long-term relationship with the patients and families because of the frequency of management visits. Other benefits of the multidisciplinary model include reducing the burden of frequent visits to the hospital for the patient and family to see each care provider separately and reducing the financial burden for frequent visits to the hospital because many patients travel from longer distances to access tertiary care.

Other studies have discussed a partnership model between genetic counselors and physicians in oncology [40]. One study in an oncology clinical setting evaluated the differences between a model of cancer genetic counselors in traditional clinics combined with a medical geneticist compared with genetic counselor–only appointments [41]. The authors tracked the amount of time spent on patient interaction and outpatient-related care over 9 months and found that genetic counselors performed similar activities without the medical geneticist present and spent significantly less time in appointments when they worked alone as opposed to working with a medical geneticist, which may be attributed to redundancy in services.

One study in Hong Kong used a new model to provide clinical genetic services [42]. An institute located within a hospital provided genetic diagnostic and counseling clinics that were supported by an in-house laboratory, including cytogenetics, molecular genetics, and diagnostic laboratories. This model allowed the genetics team to work closely with a variety of other providers in the hospital setting.

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 [43]. Other authors explore partnerships with psychologists to improve care for patients and families receiving genetic services. For example, the feasibility of offering a narrative group session offered by a genetic counselor and a clinical psychologist to individuals who tested negative for Huntington disease was assessed, and participants provided overwhelmingly positive feedback about this approach [44]. Another study assessed the level of satisfaction among Brazilian mothers of children with Down syndrome who received care from a multidisciplinary team consisting of 3 counselors, 3 psychologists, a social worker, 3 physicians, and 2 nurses. Satisfaction with the information received and psychological support was high among the mothers [45].

With genetics and nongenetics professionals alike, training and educational resources were indicated as needs [2,6,14,15]. Genetic counselor training programs face challenges related to the need to expand knowledge and to meet increasing demands within the context of the various roles that genetic counselors play in academia, clinical service, and industry [5]. Moreover, as genetic services continue to become more integrated into primary care or other specialties, roles, data and database sharing, and preparation of nongenetics professionals will need to be explored [46]. Stoll et al [1] discuss training and educational interventions as solutions to assist primary care providers in improving knowledge and helping to recognize and triage patients for genetic testing and counseling services [1]. Others have noted that professionals can incur liability, and patients can experience negative outcomes as a result of inadequately trained providers [6].

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 [46] carried out a literature review of genetic services in North America, Europe, and Australia, highlighting the advantages of integrating genetic services into primary care. For rare genetic conditions, the study’s authors recommended the use of multidisciplinary specialist clinics or coordinated services with primary care providers. For other common genetic conditions, such as genetics-related cancers, interprofessional collaboration between geneticists and other medical providers seemed sufficient for coordinating care.

One study assessed the attitudes and barriers of incorporating a genetic counselor into a cystic fibrosis clinic in New York [47]. Among center directors and clinic coordinators who responded to the survey, 84% indicated that genetic counselors provide a valuable service in the clinic and 85% endorse this relationship (as indicated by a recommend or strongly recommend response).

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 [48]. In addition, time from referral to scheduling a genetics appointment was reduced. A similar finding was reported in a specialized gastrointestinal cancer center [49]. A 223% increase in the number of patients receiving genetic services occurred after integrating genetic counselors into the gastrointestinal cancer center. Pederson et al [50] conducted a retrospective review of patterns of genetics referrals, compliance, and testing over a 2-year period before and after a genetic counselor was embedded within a breast surgery clinic [50]. Not only did the likelihood of being referred to genetic services increase by 49%, but a greater number of patients were also more likely to go through with a genetic counseling appointment and take part in a genetic counseling session before surgery. Notably, the authors reported a 31% reduction in time to treatment between the 2 periods.

The use of genetic counseling assistants (GCAs) has also been explored as a solution to the shortage of genetic counselors. Pirzadeh-Miller et al [51] explored the use of GCAs from a survey distributed to certified genetic counselors, GCAs, and genetic counseling program directors [51]. Genetic counselors were able to see more patients when they had a GCA (58.5% more patients with a ratio of 3 genetic counselors to 1 GCA), and all genetic counselors surveyed reported an increase in efficiency in patient care or productive time utilization. GCA responsibilities endorsed by genetic counselors included entering data, shipping test kits, performing administrative tasks, and ordering supplies. However, fewer than half of genetic counselors reported endorsing GCAs for calling patients with test results or formulating results letters for patients. Of the genetic counselor respondents, 90% reported that the GCA profession could lead to a genetic counseling career. GCA respondents reported similar duties, and most GCAs (86%) were interested in a genetic counseling career.

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 [52]. Themes that arose for how GCAs could change their practice included increased time available for higher-level duties, higher patient volumes, and increased efficiency. There was consensus among respondents on what GCAs should be doing, but the scope and guidelines for the role of GCAs have not been clearly defined. Respondents who currently did not use GCAs had greater concerns about the role of, and burden of supervising, GCAs compared with respondents who were currently working with GCAs.

A handful of studies described various technologies that are being implemented to support the delivery of genetic services. Flannery [53] identified some of these technologies, including eConsult, an internet-based communication method between primary care physicians and specialists; chatbots, which use artificial intelligence (AI) to produce interactive conversations; and a web-based platform that integrates education on carrier results with personal test results. Moreover, 2 other studies endorse the use of chatbots [54,55]. Schmidlen et al [55] explored the use of chatbots for scaling up communication in genomics research, specifically for consenting to research, interacting with health care providers after receiving genomics results, and sharing genetic information with relatives.

Kearney et al [56] describe the current applications of AI in genomics and genetic counseling and the potential for continued and increased integration of AI in genetics. Medical genetic testing is one of the major applications of machine learning and deep learning in genomics. Another use of machine learning is in the development of clinical decision support tools. Examples cited include tools that could search literature based on molecular profile, image recognition to identify a genetic diagnosis based on a patient’s phenotype, or matching genetic diseases to the identified symptoms.

A few recent papers explored how to best implement or evaluate the use of alternate service delivery models. For example, Chou et al [57] developed a genetic services assessment tool consisting of 16 quality indicators for states to use to evaluate public health genetic services. The major domains identified include (1) structural metrics that are key components to quality genetic services: workforce, training and education, information systems, and types of programs provided; (2) clinical process metrics affecting quality genetic services: patient-provider interactions, care coordination and management, quality assurance and improvement mechanisms, and care provision and service delivery (metrics describe patient-provider interactions, continuity of care, quality programs, and performance tracking); and (3) outcome measures of quality genetic services: process-of-care outcomes (screenings and referrals rather than health outcomes). The authors suggest that this tool will help states identify key areas for improvement and quantify progress made.

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 [58] described one such quality improvement approach that was used to reduce the significant loss to follow-up after newborn hearing screening. Before implementation, more than half of the children were lost to follow-up after a newborn hearing screening. However, after using this quality improvement approach, new strategies were adopted, and teams reported decreasing loss to follow-up rates.

Textbox 3 presents an overview of the challenges and possible solutions outlined in the literature.