Genetic Services in Appalachia Conference Series

Abstract

This study examined the data generated as part of a seven-session webinar series that focused on genetics care provision in the medically underserved, rural Appalachian region and examined how these services have adapted to challenging practice environments. Barriers and facilitators to care in our region were considered. Data included a baseline survey of registrants, transcripts of sessions, and feedback about sessions. We analyzed data with a sequential and concurrent mixed methods approach. Registrants (n = 137) were disproportionately healthcare providers with genetic services expertise (37.2%). Approximately half (43.8%) of registrants were from KY, WV, and TN in the central Appalachian region. Our baseline survey found that the most noted barriers were the cost of services, lack of providers, and access to care. The most common facilitator was telehealth. Analysis of transcripts identified barriers that were consistent with those noted in the baseline survey, but additional support and network opportunities were discussed to allow for learning across services. Numerous barriers to service delivery were noted; however, despite challenges, participants identified opportunities and resources in the community. These insights will inform a research agenda aimed at advancing genetics services in rural Appalachia, addressing challenges, and leveraging assets for improved healthcare access and outcomes.

1 |. Introduction

By 2028, the global precision health market could be as high as $217 billion, and providers without specialized training in genetics may find it difficult to stay abreast of recent diagnostics and treatment (Ginsburg and Phillips 2018; Lu, Terry, and Thomas 2023; BIS Research 2020). With these challenges, providers will be increasingly reliant on specialty genetic services, potentially increasing the healthcare divide between those who have access to genetic specialty care and those who do not. One population which has not equally reaped the benefits of these advanced and necessary specialty services are individuals from the federally designated Appalachian region, which is disproportionately rural. This region is geopolitically defined at the county level, and it includes portions of 12 states and all of West Virginia, in the eastern United States from New York to Mississippi, associated with the Appalachian Mountains (Appalachian Regional Commission 2024). An estimated 26 million people live in Appalachia (Appalachian Regional Commission 2024). Appalachia has disproportionately high poverty rates, health professional shortages, and chronic disease incidence and mortality (Behringer 1994; Burkett 1994; Health Resources and Services Administration 2024; Huang et al. 2002). Although Appalachia is culturally diverse, the importance of knowing one’s family history is a common thread, particularly in the central Appalachian region of West 1 of 14 Virginia, Kentucky, and Tennessee (Coyne, Demian-Popescu, and Friend 2006; Hunsucker, Flannery, and Frank 2000). The combination of family health awareness and low literacy levels may contribute to a heightened desire for help with genetic services in rural Appalachians (Kelly et al. 2007). However, few locations for genetic services are available to rural Appalachians, particularly in West Virginia (Appalachian Regional Commission 2024).

Clinical geneticists and genetic counselors are usually tasked with the provision of genetic services, with counseling being a focus. Pretest counseling is recommended by the National Society for Genetic Counselors (NSGC) and the US Preventive Services Task Force (Genetic Alliance 2009; NSGC 2004; McPherson 2006; Nelson et al. 2014; Nature Portfolio 2020). According to the NSGC, the functions of genetic counseling include helping people understand (i.e., cognition) and adapt (e.g., affect, behavior) to genetic conditions, and non-directiveness should guide genetic counseling, promoting patient autonomy in decision-making (Djurdjinovic 1998; Kessler 1992; NSGC 2004; Resta et al. 2006). Systematic reviews of genetic services have shown the importance of genetic counseling in helping to improve psychosocial outcomes in those at risk for genetic conditions. These reviews document increased knowledge, increased risk perception accuracy, and decreased disease-related worry, anxiety, and depression (Braithwaite et al. 2004; Nelson et al. 2014; Smerecnik et al. 2009).

With the demonstrated benefits of genetic counseling, genetic counselors and clinical geneticists are increasingly seeking novel ways to deliver genetic services to reach underserved populations (Brown et al. 2018; Weissman et al. 2018; Zilliacus et al. 2011). Three methods have been introduced to increase the accessibility of genetics services: telegenetics, nontraditional providers, and decreased genetic testing cost. Even before COVID-19, nearly 70% of genetic counselors reported some telemedicine (telephone or video) service delivery (Zierhut et al. 2018). Mounting evidence indicates that genetic counseling services can be provided remotely, and existing data are suggestive that telegenetics is equivalent to in-person genetic counseling, with some minor exceptions (Buchanan et al. 2015; Falah et al. 2023; Fournier, Bazzell, and Dains 2018; Kinney et al. 2014; Vrecar, Hristovski, and Peterlin 2017). Our medically underserved Appalachian population with limited access to genetic counseling services may be receptive; however, lack of high-speed broadband poses challenges (Federal Communication Commission 2024). Few studies of telegenetics have been conducted in populations of lower socioeconomic status, and most studies have focused on services by traditionally trained master’s level genetic counselors (Binion et al. 2024; Mette et al. 2016). Due to decreases in provider and patient travel time, telegenetics offers the prospect of providing high-quality care at decreased cost for more people (Voils et al. 2018; Zilliacus et al. 2010), but new models of care provision are needed.

Another approach to improve access and reduce cost is to introduce nontraditional providers to assist with genetic services delivery (Feldman 2016; Flannery 2018). Although long playing a role in the care of individuals with genetic conditions, nurses have emerged as a provider of genetic services, particularly at the advanced practice level. More recently, bachelors-prepared nurses and genetic assistants are assuming a greater role in genetic service delivery at a reduced cost, such as assisting with family history screening (Cohen and Nixon 2016; Hnatiuk et al. 2019). Also, a lay genetics referral network (i.e., community members with no formal training in genetics to help refer to genetic services) may be helpful (Persad-Clem et al. 2023). Finally, negotiating a flat rate for testing with a clinical genetics laboratory, seeking support through patient assistance payment programs, using public health programs like newborn screening to cover diagnostic testing, and advocating for coverage through state insurance providers can be helpful. Innovative models are needed to facilitate accessibility and improve the quality of genetic services worldwide, but particularly in medically underserved areas like Appalachia (Boothe et al. 2021; Unim et al. 2019).

Our conference series “Genetic Services in Appalachia” had three objectives: to provide an overview of current models of genetics services, to provide potential resources for genetics service delivery, and to establish a list of priorities for future genetics research in the rural, Appalachian region. Although the conference was open to all, we particularly focused on providers of genetics services in Appalachia. Based on this conference series, innovations in genetic services healthcare provision for medically underserved populations may be realized.

2 |. Materials and Methods

2.1 |. Editorial Policies and Ethical Considerations

West Virginia University and the University Tennessee Health Science Center institutional review boards acknowledged the webinar series and data collection as exempt.

2.2 |. Seminar Series

The seminar series, “Genetic Services in Appalachia,” was advertised widely at West Virginia University through the university listserv, by the National Society of Genetic Counselors listserv, by New York-Mid Atlantic Caribbean Regional Genetics Network (NYMAC), and by word-of-mouth to patients and colleagues. The seminar series included 7 presentations over 7 months and had 3 aims: (1) to provide an overview of current models of genetic service delivery in the rural, Appalachian region and barriers to care provision (WV, KY, and PA); (2) to provide potential resources for genetics service delivery in the rural, Appalachian region (NYMAC-NY and nurses in genetics-PA), and (3) to establish a list of priorities (WV and VA).

• Session 1 was an overview of the seminar series with Dr. Kelly, a behavioral science researcher trained as a genetic counselor, discussing the overall aims of the series and Dr. Falah, a clinical geneticist, discussing the genetic service through West Virginia University in West Virginia.

• Session 2 focused on genetic services in central and Eastern Kentucky (the Appalachian region of Kentucky) provided by the University of Kentucky, detailed the establishment of the services and payment models for their services, led by Ms. Pickarski, a cancer genetic counselor, and by Ms. Au, a pediatric genetic counselor.

• Session 3 was focused on genetic services in Appalachian Pennsylvania provided by the University of Pittsburgh, which included a basic review of genetic services and the services at their institution. The speakers were Ms. Sanoba, who worked as a cancer genetic counselor but transitioned to pancreatic cancer research in NY at the time of the presentation, and Ms. Stone, who worked as a prenatal genetic counselor but transitioned to a clinical genomics laboratory in Pennsylvania.

• Session 4 was presented by Ms. Terry, a genetic counselor from NY, who discussed resources and efforts through NYMAC, particularly available support for telegenetics.

• Session 5 discussed the role of nurses in genetic services, availability of support from the International Society of Nurses in Genetics (ISONG), and opportunities for nurses who want more training in genetic services by Dr. Kronk, a nursing professor at Duquesne University and a past president of ISONG.

• The sixth session included recent research in medically underserved populations, including a discussion of a funded study of lay referral networks that could be utilized in future research in Appalachia, provided by Dr. Graves, a clinical psychologist and researcher.

• The final session, led by Dr. Kelly reviewed the conference, provided a summary of findings to date, and discussed a research agenda with conference participants.

Each speaker presented their experience and reflected on current challenges and future opportunities of genetics in the rural, Appalachian region. Following the live session, recorded sessions were posted online, and a transcript was posted on the website https://pharmacy.hsc.wvu.edu/continuing-education/2021-2022-conference-series-on-genetics-services-in-appalachia/.

2.3 |. Data Collection

Three types of data were generated in our conference series: a baseline survey, transcripts of sessions, and evaluations. For the baseline survey, descriptive data were collected from individuals as they registered for the conference series in an online Qualtrics platform: knowledge and experience with genetics, location, type and funding for service provision, and barriers and opportunities for genetic services in the Appalachian region. Transcriptions of sessions were generated by Zoom and reviewed by the PI and/or a research assistant (RA) and compared with the videotape for quality assurance. The transcripts were shared with speakers who made final edits. A brief evaluation was given after each session, which included questions about the speaker, the quality of the online presentation, and feedback about genetic services. Five questions assessed attention, liking, comprehension, self-efficacy, and yielding/intentions on a 1 (not at all) to 7 (very much) scale (Kelly et al. 2022; Kelly et al. 2015). At the end of the series, we asked participants about the relevance of each session and whether it met expectations on a 1 (not at all) to 5 (very much) scale. The survey and evaluations were administered with a Qualtrics survey platform. A mixed methods (qualitative and quantitative) approach was used to analyze data, with methodological triangulation (Brewer and Hunter 1989; Fielding and Fielding 1986; Patton 1990). Hence, in terms of Morse’s model of combining qualitative and quantitative data, a sequential timing of data analysis was conducted (Miller and Crabtree 1994; Morse 1991). Descriptive statistics (e.g., means, standard deviations) were generated to describe the participants and assess the feedback from each session individual and the group. Open-ended survey items and transcripts were then reviewed and coded dually by the PI and an RA in an iterative manner, using a line-by-line immersion/crystallization approach to identify common themes, with discussion to achieve consensus. Member checking was used for qualitative validity (Kelly and Dhumal 2022; Miller and Crabtree 2000). To improve applicability to the clinical enterprise, a content analysis was conducted on codes and themes identified in thematic coding, kappa was computed for inter-rater reliability between KK and TD, and frequencies of codes were computed (Burla et al. 2008; Kelly and Dhumal 2022).

3 |. Results

3.1 |. Baseline Survey

2013Individuals (n = 137) registered for the series through an online registration survey. Most (59.9%) registered in the first month of the conference We had an increase in registration (23.4%) before session 4 when we began our talks about resources for genetic services. Registrants came from 22 states, Puerto Rico, and the District of Columbia. Conference registrants were mostly from WV (n = 36, 26.3%), KY (n = 23, 16.8%), and PA (n = 15, 10.9%). In addition, participants were from NY (n = 10, 7.3%) and MD/VA/DC (n = 7, 5.1%; n = 8, 5.8%; n = 4, 2.9%, respectively). Of the 13 Appalachian states, 11 were represented, except Mississippi and South Carolina. Registrants were disproportionately healthcare providers with genetic services expertise (37.2%). Approximately half (43.8%) of registrants were from the central Appalachian region (KY, WV, TN). Fourteen of the genetic specialists were from KY, WV, and TN. Most registrants (75.9%) were from an Appalachian state; although some of those not in an Appalachian state may have provided clinical, educational, or testing services to Appalachian patients (e.g., “Every state in the US and international,” which was indicated by a registrant from California) or have other ties to the region. Also, some from outside of Appalachian states did not report barriers (n = 8, 5.8%) or facilitators (n = 15, 10.9%). Thus, nearly all those reporting barriers and facilitators had a connection to the Appalachian population. Table 1 includes additional information about participant demographics. Those with professional specialties included medicine, pharmacy, genetic counseling, dietetics, social work, special education, jurisprudence, nursing, business, and communications. Figure 1 includes a. self-rated genetics background and b. patient care type. The number of active Zoom participants ranged from approximately 20–25 per session, but this is an underestimation of the number of participants. In some cases, a Zoom participant had others in the room with them to view the presentation. In addition, some may have viewed the recorded session later. Thus, the actual number of viewers may be greater.

TABLE 1 |.

Registrant demographics.

	Frequency % (n)
Education level
Some college	1.5 (2)
2-year degree	2.9 (4)
4-year degree	19.7 (27)
Professional degree	51.8 (71)
Self-reported specialization
Genetic counselor/student	14.6 (20)
Nurse	3.6 (5)
Public health	2.9 (4)
Doctorate degree	24.1 (33)
Self-reported specialization
MD	4.4 (6)
PhD	6.6 (9)
PharmD	2.2 (3)
DNP	0.7 (1)
Role (may be more than 1)
• Patient	2.2 (3)
• Caregiver	3.6 (5)
• Community member	2.9 (4)
• Healthcare provider	53.3 (73)
• Researcher	13.9 (19)
• Other (administrative assistant, administrator, laboratory personnel, research coordinator, student, clinical trial recruiter, educator, marketing manager, quality assurance manager, navigator)	35.8 (39)
Payment method (may be more than 1)
Private insurance	27.7 (38)
Medicare	25.5 (35)
Medi-Gap	7.3 (10)
Medicaid	27.0 (30)
SCHIP	7.3 (10)
Military	17.5 (24)
Indian health service	8.0 (11)
State-sponsored	21.2 (29)
Other government	16.1 (22)

FIGURE 1 |.

(a) Self-rated genetics background (% reporting). (b) Patient care type for clinicians (% reporting of total registrants).

3.2 |. Barriers in Survey and Transcripts

In the baseline survey, most participants (71.5%) reported barriers to genetic services. Table 2 includes qualitative themes and codes for baseline and transcripts with representative quotations for barriers. Figure 2a reports the frequencies of common barriers in the baseline survey. Raters had difficulty distinguishing between provider and patient need for genetics knowledge in many cases; thus, these codes were collapsed into one overall theme. Following this merger, the lowest inter-rater reliability was κ = 0.7 for “Institutional Support/Care Fragmentation.” The average was κ = 0.9 for 13 codes. In codes where agreement was not perfect (where κ < 1.0) between two raters (7 codes), the average frequency was reported.

TABLE 2 |.

Barriers and facilitators identified in the baseline survey and transcripts.

	Baseline survey	Transcripts
Barriers themes
Cost and access
*Reimbursement/cost of care/insurance	“Inhibitive cost for services/travel/testing”	“We have tried billing for genetic counseling, but we found that there was such a low rate of reimbursement for genetic counselors that at some point we questioned if it was worth continuing to attempt billing, since such a high percentage of our patients have some Medicaid plan… we were also concerned that these patients might be getting some balance bill…”
*Access/referral	“Access to care. We are the only genetics office in the state with a long waiting list”	“Some of the barriers are exportable to different communities; so in rural Appalachia, the number and location of genetic professionals: specifically, genetic counselors. We need more genetic counselors overall in this country. And then, making sure that community-based clinics have access, if not in house, then access to a genetic counselor ideally by something like telephone. So that individuals who are identified as having potential risk for hereditary cancer syndrome can be connected directly, without having to travel, ideally, from the comfort of their own home. Or from the clinic itself through telephone or through video, so number of genetic counselors is one barrier”
*Lack of providers/workforce	“Workforce, lack of genetic counselors”	“When I came on, they had been without a genetic counselor for almost a year, so there was a lot of backlog and things to be done there”
*Licensure for genetic counselors	“Lack of state licensure and hiring of trained professionals (e.g., genetic counselors) in rural areas and lack of service reimbursement”	“We really hope to change a lot of policies for genetic services that are provided in West Virginia, including licensure to genetic counselors, as well as a coverage by insurance companies, especially West Virginia Medicaid, where they cover the service, they cover the genetic testing, which could ease a lot of what we provide”
*Limited scope of practice for genetic counselors	“Limitations for genetic counselors… cannot be utilized their fullest potential”	“The state of Kentucky has established licensure for genetic counselors starting in 2018, and these are the tasks that we are allowed to perform under our license: getting family histories, medical histories, talking about genetic diagnoses, identifying and ordering genetic testing, which is kind of a yes and no situation, because we are not yet recognized by Medicare and Medicaid”
Education and awareness
*Provider knowledge/awareness	“Provider understanding and whether or not the referring provider gives adequate info to the patient about the importance of seeing genetics”	“Patients can’t get to us if they or their providers don’t know that our services are out there”
*Patient genetics literacy/health literacy	“In many areas of Appalachia, you are talking about these services with people who have only taken one high school biology class, if any”	“It’s not a surprise that many of our patients come to see us, and say, ‘I don’t know the reason why I'm here today.’ And we have to educate them about the service, what we can offer, what genetic testing we could give them, and how it could help them manage their disorder”
Structural barriers to care
*Distance/transportation/geography	“Long distance from centers”	“It’s interesting. We, as an organization, we have started recognizing that we see three very common themes whenever we talk to any location, that we work with; so, we see themes under the bucket of distance to care, sort of where you are versus where the closest clinic is and how you get from A to B. Even if you're within the same city sometimes those issues can be really important, so distance to care is one really big one”
*Technology/internet/broadband	“Lack of Internet and phone service in Appalachia”	“Telehealth can be a challenge when broadband or cell phone coverage is not good, as we see across the region in certain areas. This is really important to keep in mind when you're trying to use telehealth to reach families that already have challenges in accessing care and services”
*Available treatments/lack of guidelines/changing guidelines/rare conditions	“Diagnosis, access, rare conditions without evidence-based treatments”	“An important concept that genetic providers do, that are practicing anywhere, not just in Appalachia, is to be up to date with information. So we keep up our education through maintaining certification, attending seminars, conferences, we go to conferences: ACMG, ASHG. We review a lot of genetic materials, even within, when the patient comes to see us again. The entire guidelines change every year. The recommendations could change every year, as well”
*Institutional support/care fragmentation	“Fragmented healthcare system”	“There's obviously been work done over the years demonstrating the value of having a genetics visit for a family… but maybe that needs to be studied more specifically in the region, just to be able to demonstrate really concretely why. It brings value to the system and the family, for them to go to care to sort of convince institutions that it’s worth it… A lot of times we do see genetics providers or even genetics clinics being on paper, looking like they are losing money for the institution because of the billing situation. But a lot of places are able to document that there's these other impacts on families and downstream within the institution that argue for the value of genetics. So I think that for places that are struggling with having enough providers or having institutional support for genetics providers maybe taking a look again at really documenting and demonstrating why it matters, what impact it has, and how it does benefit the institution, even if it’s not an immediate billing cycle”
Population barriers to care
*Number needing services/demand	“Genetic conditions are individual rare, but collectively common”	“Tip of the iceberg here. Over a billion people worldwide live with disability; so that’s about 15% of the world's population. And it truly is the largest minority group in the world... But I want you to keep this in mind as talk about the Appalachia region because I think that there's this amplifying phenomenon that we need to pay attention to. So the Disability Belt is this geographic distribution of people on disability in rural areas of Appalachia, the Deep South, and along the Arkansas-Missouri border. It covers much of the Appalachian region”
*Language barriers	“Need for more genetic counselors (and bilingual genetic counselors)	“Our participants indicated that they were very interested in learning about this information, not only for themselves, but in particular for their family members… we also asked about barriers to genetic counseling and testing. And the ones that kept surfacing including cost, language barriers, and insurance barriers.
*Stigma/vulnerability	“Stigma from lack of education and stereotypes”	“And yet, they are three times more likely to be denied healthcare, four times more likely to access healthcare, but be treated poorly… There's a greater risk of exposure to violence, and when I read the statistics on this, I'm blown away. People with disabilities are three times more likely to have experienced violent victimization—those are things like rape, robbery and assault, and as a child, they're 1.5 times more likely to be abused”
Facilitators themes
Delivery models
*Telegenetics/technology/online registries/research	“Telehealth has been a big resource for reaching patients who live in more rural areas”	“Some clinics have incorporated other technology beyond telegenetics, including things like chatbots to answer questions, online family history collection tools, various databases and risk calculators, and even using artificial intelligence and some settings like facial recognition to predict potential diagnoses. So sometimes these health IT applications are integrated into the telehealth program. Sometimes there sort of a side project that goes along with both the in-person and the telehealth, but it’s been really interesting to see the evolution of these other technology applications in genetics”
*Regional clinics/local clinics/health departments/travel	“Traveling to clinics outside of the provider's primary location allows the Genetics team to reach more patients”	“…leveraging our regional networks, having smaller facilities pair with larger facilities. In West Virginia, WVU has been acquiring a lot of smaller hospitals. In an NCI meeting, about 3 or 4years ago, they were talking about the dramatic loss of our regional hospitals, our small community rural hospitals. We were losing a lot of those health care centers, and so the effort in West Virginia, with the medical system here, is that the University has been acquiring a lot of those smaller hospitals to have satellites. I know that a similar situation has been established with the University of Kentucky to reach out into Eastern Kentucky which has a large rural population”
*New clinical models/evidence-based medicine	“Telemed and new models of care”	“There was 1 week late in 2019 that I had like five pancreatic cancer patients on my schedule, and I didn’t end up seeing any of them because they were all too sick to come in for their visit, or had gone home with hospice, or had already passed away. That week prompted us to really look at our model and come up with a way to ensure that patients were able to have testing done because often they were being referred, but they weren’t able to be seen, or have their testing done. So, the genetic counselors along with our medical oncologist and our surgical oncologist, we all worked together to come up with a workflow to help improve the access to germline testing for these patients”
Networking/partnerships
*New clinics/institutional buy-in	“New efforts from the team involved with the Children's Hospital addition in Morgantown”	“There's a whole host of other genetic services. The two big ones that I want to highlight, that I think are really unique, we have an ophthalmology genetics clinics and group of genetic counselors that meets with both children and adults for evaluation and in discussion about inherited eye diseases, that’s not a common clinic… And then we also have a physician and a team of genetic counselors that are incorporating genetic services into a primary care clinic. So they call it a primary care physician medicine clinic, and I'm really interested in seeing where that kind of continues to go and what comes out of it. Because I think that’s a really interesting practice and how to incorporate genetic services into a day-to-day primary care facility”
*Professional organizations/genetic counselors	“Professional organizations that advocate for geneticists, genetic counselors, APP, etc… They also support educational efforts at all levels for the public and professionals”	“Other organizations: One of them I'm most familiar with, and I've been with ISONG for many years. This organization was started in 1988, and we have around 350 plus members from all over the world… And this organization is really to support nurses from any field but that are interested in genetic and genomic education, leadership opportunities, research opportunities, or maybe just want to learn more about genetics for their clinical practice”
*Partnerships/other professionals/networking/social workers/pharmacy	“Collaboration brings support and innovation”	“We get some referrals from primary care physicians there were a number of people that were savvy enough to ask family history questions and recognize that certain patterns of things should warrant a referral. There are also some dermatologists, urologists, and gastroenterologists that either were knowledgeable and would refer to us, and oftentimes, these people were, we had kind of a symbiotic relationship with them”
Education/outreach
*Provider education/provider compassion	“Getting providers on board, providing them with literacy about genetic illness”	“At the end of the course, I will hear things like ‘this has changed my practice; this has really changed my life.’ You know even personally they haven’t thought about some of the ways that genetics can be incorporated, into ethical situations, religious situations, thinking about the health literacy of their patient. They can do referral activities by the end of this course, things that they wouldn’t normally get in a biology or pathophysiology course, so I think that makes a pretty profound difference, and they see that by the end”
*Patient education/social media	“I manage a grant funded program that supports parents of x by providing information about resources, making referrals, providing peer-to-peer self-advocacy coaching, hosting parental/caregiver support groups”	“Some patient advocacy and patient education-type groups like FORCE (Facing Our Risk of Cancer Empowered) have really done a great job developing educational materials, videos, interpretation of some of the science, interpretation of some of the headlines, and I believe that they're also working on some health literacy and genomic literacy educational modules. So maybe partnering with existing groups that have already done a deep dive into some of the work and then tailoring that for different communities or audiences or topics could be one to save costs of developing something from scratch and then also expand the reach of those community and patient advocacy type groups”
Increasing affordability
*Industry-sponsored testing/labs	“Lab financial assistance”	“There are patient payment plans and out of pocket options, and many labs are pretty generous programs. For patient assistance that are income-based, a surprising number of people qualify for it, like if you're within 300% of the poverty line, your testing can be reduced or free. And many labs also have generous options for coverage for Medicare and Medicaid patients”
*Insurance coverage	“Medicaid expansion”	“One thing that we often do either at the time of the visit or very shortly after the patient has decided to proceed with testing, is to provide an estimate of cost. So I think a lot of the genetic counselors on the call will be familiar with the patient anxiety associated with the potential cost of cancer genetic testing. There is still this sort of memory that’s been either present in patients or are passed on through families that testing used to be very expensive. So in order to kind of provide that information, and to reduce at least one part of the anxiety, we are able to get cost estimates ahead of time. We often send the test result out. There are different labs that are contracted with various insurances; so depending on what type of coverage a patient has that will dictate where their sample goes”
*Policy change	“Lobby with legislatures for support”	“There's been an initiative to consider genetic counselors as providers in the CMS system, and we're still not there. Pharmacy has also been going through a similar path, and now with the COVID pandemic, they're probably a little bit closer now to receiving a provider status… so these are exciting developments, and we will maybe learn some things from the pharmacist about how we can better get compensation for these kinds of services. The one that has been sitting in the House for a while, I think, is HR 2144”

FIGURE 2 |.

(a) Barriers (number reporting). (b) Facilitators (number reporting).

The most common barrier was cost and access, led by cost of services/lack of reimbursement. Next was lack of providers/workforce issues and access/referral issues. In other words, there are not enough genetic service providers in the Appalachian region, and suitable ways to compensate specialty providers for care are lacking. Providers from WV noted genetic counselor licensure to be a challenge. Two related themes were lack of knowledge/awareness of services and genetics literacy, whether patients, providers, or community members. Structural barriers to care included distance to care and transportation, with specific mention of rural residence. Concerns about Internet and telephone access and their quality were noted. Population barriers included language barriers, stigma, volume/rarity, and institutional support.

3.3 |. Facilitators in Survey and Transcripts

In the baseline survey, approximately half of registrants (56.0%) reported facilitators of genetic services. Table 2 includes qualitative themes and codes for baseline and transcripts with representative quotations for facilitators. Figure 2b reports frequencies of common facilitators in the baseline survey. Raters had difficulty distinguishing between provider and patient educational efforts in many cases; thus, these codes were collapsed into one overall theme. Following this merger, the lowest inter-rater reliability was κ = 0.7 for “Medicaid Expansion/Affordability.” The average was κ = 0.9 for 10 codes. In codes where agreement was not perfect (where κ < 1.0) between two raters (6 codes), the average frequency was reported.

Delivery models were the most common theme, and overwhelmingly registrants reported telehealth. Another major theme was the chance to network and learn more about professional and regional partnerships. Notably, several indicated that they looked to academic hospitals like West Virginia University and the University of Kentucky for leadership and support in specialty care and appreciated rural traveling clinics. Another theme was the opportunity for improved education, including direct education to providers about appropriate referrals and education to the public. A fourth theme of facilitators included policy change at the state and federal levels, with an emphasis on licensure for genetic counselors, as a first step in getting insurance reimbursement for their services. Along with potential reimbursement that may come from policy change, some attendees mentioned ways to increase the affordability of genetics services, such as industry-sponsored testing, patient support programs, Medicaid expansion, and a general decrease in the cost of genetic testing. Finally, one registrant noted the commitment of providers in Appalachia, “provider’s compassion and willingness to support and meet patient needs.”

3.4 |. Research Agenda in Transcripts

Each speaker commented about future areas of research in their presentations. These were summarized and discussed in Session 7. Lay referral networks were seen to increase referral to genetics services; however, with the dearth of providers, this was not seen as a high-priority area. Policy goals included federal passage of licensure for genetic counselors and increased compensation for genetic services. Research into patient and provider resources was seen as a priority, including websites, outreach clinics, multidisciplinary clinics, training for nurses, and alternative service delivery models. Building on community ties, improving community genetic literacy, and overall creating a better infrastructure to help families follow-up with recommendations were also seen as important areas for future development and research. New technologies to reach patient populations (e.g., telegenetics), increased use of artificial intelligence to decrease workload for genetic service providers, and pharmacogenomics were seen as potential opportunities as the research infrastructure developed.

3.5 |. Evaluations

Individual evaluations were conducted for each of the sessions, except sessions 6 and 7, with a response range of 1 = lowest/worst and 7 = highest/best. Table 3 shows mean ratings for each of the sessions for attention (mean range 5.4–7.0), liking (mean range 5.7–7.0), comprehension (mean range 6.0–7.0), self-efficacy (mean range 5.7–7.0), and intentions (mean range 5.0–6.8). Only 3 surveys were returned for the overall evaluation (sent after session 7), with 1 not evaluating any of the sessions, and of the two remaining, session 1 (n = 1; relevant M = 5.0, met expectations M = 5.0) and session 7 (n = 2; relevant M = 5.0, met expectations M = 5.0) were evaluated on a scale from 1 = lowest/worst and 5 = highest/best. The biggest barriers noted included poor reimbursement for services, access to services, lack of providers, and low genetic literacy and awareness in patients and professionals. The biggest facilitators included educational tools and programs, alternative service delivery models (e.g., telegenetics), and collaborations with physicians, organizations, and agencies. The highest priorities included increasing access to care, improving awareness of genetic services and genetics literacy, and genetic counselor licensure for reimbursement.

TABLE 3 |.

Evaluations of sessions.

Session	Attention	Liking	Comprehension	Self-efficacy	Behavior intentions
1. West Virginia (n = 12)	M = 6.0, SD = 1.0	M = 6.2, SD = 1.2	M = 6.8, SD = 0.5	M = 6.3, SD = 1.0	M = 6.1, SD = 1.3
2. Kentucky (n = 15)	M = 6.6, SD = 0.8	M = 6.6, SD = 0.8	M = 6.9, SD = 0.3	M = 6.5, SD = 0.7	M = 6.3, SD = 1.0
3. Pennsylvania (n = 4)	M = 6.8, SD = 0.5	M = 7.0, SD = 0.0	M = 7.0, SD = 0.0	M = 7.0, SD = 0.0	M = 6.8, SD = 0.5
4. NYMAC (n = 3)	M = 7.0, SD = 0.0	M = 7.0, SD = 0.0	M = 7.0, SD = 0.0	M = 7.0, SD = 0.0	M = 5.0, SD = 1.7
5. Nurses in genetics (n = 7)	M = 5.4, SD = 1.0	M = 5.7, SD = 0.8	M = 6.0, SD = 1.2	M = 5.7, SD = 0.8	M = 5.4, SD = 1.0

4 |. Discussion

We successfully achieved our webinar series’ objectives over 7 months to understand the barriers and facilitators of genetic services in Appalachia and used this information to develop a research agenda. As noted in our baseline registration and in the presentations from our providers in central and northern Appalachia, we have considerable work to do. Although a diverse region that covers all or portions of 13 states, the Appalachian population tends to have lower levels of education, making genetics literacy and health literacy efforts more challenging and a priority (Kelly et al. 2007). One of the key findings was the prevalent barrier of cost and reimbursement issues, indicating a significant financial hurdle for both patients and providers seeking or offering genetic services. Cost and access stand foremost in the mind of registrants as critical barriers to genetic services provision; however, providers are working to identify novel payment methods (Boothe et al. 2021). Part of the challenge is the patchwork of states with the licensure of genetic counselors, the lack of recognition of genetic counselors by Medicare and some Medicaid plans, and poor levels of compensation for genetic services from Medicare/Medicaid and private insurers. There is a clear dearth of qualified genetics providers, particularly servicing rural and otherwise medically underserved populations like those living in Appalachia. Currently, WV has 3 genetic counselors registered with the NSGC and 1 clinical geneticist, which is 2 more practicing genetic counselors since our conference series (NSGC 2024).

Distance to care is particularly challenging for rural populations, especially those in mountainous areas like central Appalachia. Although telegenetics has been implemented widely in other parts of the country, due to challenges with broadband access in Appalachia, telegenetics is somewhat novel to, and problematic for, our region (Schwartz et al. 2014). Furthermore, we have challenges with referral patterns. Improving our network of providers and increasing awareness of our services can assist here. Yet, we cannot increase awareness of genetic services until we overcome workforce issues in our region. In addition, even when patients are referred, they may not understand the significance of genetic information, which may lead them to not present for genetics appointments or not follow through with recommended testing (Falah et al. 2023). Many of these challenges are shared with other medically underserved populations, and reciprocal sharing of information about solutions can help to address unmet needs.

Overall, the sessions received positive evaluations from those who attended. Although many barriers such as the limited number of providers and cost of services were noted, there is reason for optimism, including the decreasing cost of genetic testing and new payment models for genetic services. Basic research to understand the interaction of genes and the environment and how genes affect the efficacy of medications can help to provide new treatment modalities; although without addressing access barriers to genetic services, these new modalities may deepen disparities in medically underserved populations. These health inequities raise important issues of nonmaleficence (e.g., giving people elevated risk information that they cannot afford to act upon, resulting in increased distress), autonomy (e.g., being given enough information to make independent choices), and justice (e.g., making sure individuals have access to needed genetic services). Ultimately, we as a community of patients, caregivers, scholars, educators, providers, family, and friends must seek ways to reduce and eliminate these disparities in access to and receipt of genetic services. Policy work, such as the passage of H.R.3876 “Access to Genetic Counselor Services Act of 2023” (a bill that would allow payment of genetic counseling services by Medicare), can help to improve the credentialing and compensation of genetic counselors and their services. Perhaps the best support and resource for this population, along with a growing broadband infrastructure, is the network of providers and support personnel who care deeply about the population and who are trying novel methods to overcome barriers (e.g., Falah et al. 2023; Falah, Mallow, and Kelly 2022). Individuals in rural communities and regional centers look to academic medical centers for leadership and value outreach efforts into their communities, and sessions identified working with communities as a priority for research. These relationships run counter to concerns about medical mistrust noted in other populations (Dash et al. 2014).

There is considerable diversity in Appalachia, with many differences between and within states in terms of barriers to and facilitators of genetic services, with states like Mississippi having few providers and states like Pennsylvania and New York being better resourced, albeit not evenly distributed. Future research in Appalachia should examine these differences at a more granular level. In West Virginia, a key task at the institutions is to work with leaders to rebuild the clinical genetics program before launching any provider education and referral programs in the area. NYMAC has been aiding in this effort, resulting in the hire of 2 additional genetic counselors. Although these developments were seen as a net positive for genetic services at WVUMedicine and the new WVU Children’s Hospital, emergent financial pressures from the academic enterprise contributed to the departure of some faculty.

Assessment of this webinar series had its limitations, including a small sample (particularly of patients and community members), variable attendance, and limited discussion of the topics by individuals who joined the call. In terms of data collection, we were not able to discern who attended all sessions, and we had challenges receiving evaluations, with a missing evaluation for session 6, which may have happened when the lead author changed institutions. In addition, future research should directly speak with patients and caregivers about their needs for genetic services like our previous study, as our results were driven by other invested groups who may not directly experience the challenges of healthcare access (Kelly et al. 2007). Also, we quantized qualitative data, which can facilitate interpretation for clinicians, but may not reflect the true level of agreement with individual barriers and facilitators. Other models outside of the Appalachian region could be helpful.

Despite the challenges, the conduct of this online conference series over several months had advantages. It was presented monthly; so that attendees and participants had opportunities to digest and reflect on the information. It also overcame potential challenges of the COVID-19 epidemic that required some to quarantine or otherwise restricted travel. Furthermore, dissemination efforts over the conference series offered the potential to build a broader audience. Maintaining sessions online presented the opportunity for individuals who joined the group later to review and learn from previous sessions. Our results indicate that there is work to do to improve the provision of genetic services in Appalachia. Although there is a small group of committed individuals using innovative strategies to reach and provide services to those in need, more effort and research are needed to lessen the evident health disparities.

Data Availability Statement

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.