Patient experiences in receiving telegenetics care for inherited cardiovascular diseases

Abstract

Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particular, at our institution, it enabled us to expand our genetic counseling and testing services to non-local family members of patients outside of our prior catchment area. However, as telegenetics continues to be utilized even as social distancing is no longer required, further information is needed regarding the impact of this modality on patient experience within cardiogenetics. This study qualitatively explored the experiences of 12 genotype positive individuals who underwent genetic counseling and testing via telegenetics during the first 22 months of the COVID-19 pandemic and compared the experiences of local vs. non-local patients. Both local and non-local participants discussed similar benefits and drawbacks to the use of technology in telegenetics and overall found the use of telegenetics and at-home genetic testing to be convenient. Both groups also noted having to make changes in their daily lives and future planning as a consequence of the positive genetic testing results. However, access to follow-up care differed between local and non-local participants, with more local participants having scheduled and attended appointments with the appropriate medical providers compared to non-local participants. Supplying non-local patients access to remote cardiogenetic testing may therefore require careful consideration in how to ensure proper follow-up care for genotype positive patients and may necessitate the involvement of national professional or patient-centered organizations to help streamline the referral process.

Supplementary Information

The online version contains supplementary material available at 10.1007/s12687-023-00693-5.

Introduction

Telegenetics is a subset of telemedicine and is defined as the provision of genetic services remotely by telephone, computer, or other mobile application that has audio and/or visual elements (Danylchuk et al. 2021). Telegenetics was originally established to help provide access to genetic services for individuals living in rural and remote areas (Bergstrom et al. 2020; Buchanan et al. 2016). While telephone genetic counseling was routine in some countries, including Australia, neither telephone or videoconferencing was frequently used in genetic counseling in the USA until recent times (Gorrie et al. 2021; Otten et al. 2015; Vrečar et al. 2017). However, the COVID-19 pandemic led to a rapid and unprecedented expansion in telegenetics (Bergstrom et al. 2020; Gray et al. 2000; Pagliazzi et al. 2020; Wosik et al. 2020). In 2019, only about 20% of genetic counselors reported using telemedicine services, whereas this number increased to 85% by late 2020 (NSGC > Policy, Research and Publications > Professional Status Survey, n.d.). Data from the Regional Genetics Networks (RGNs) demonstrate that the number of patients receiving telegenetics services in RGN-supported clinics has continued to increase from 10,082 patients during the pandemic (June 2019 through May 2020) up to 19,140 in the post-pandemic period (June 2021 through May 2022) (Genetics Workforce—National Coordinating Center for the Regional Genetics Networks, n.d.).

Prior studies have largely demonstrated high patient and provider satisfaction with the telegenetics format (Allison et al. 2022; Bergstrom et al. 2020; Solomons et al. 2018; Vrečar et al. 2017). A recent systematic review concluded that telegenetics was non-inferior or comparable to in-person genetic counseling across a number of domains (Danylchuk et al. 2021). However, most of the studies included focused only on cancer genetic counseling, and less is known about telegenetics for cardiovascular services. A retrospective research study conducted in the cardiogenetics clinics at our institution compared cardiogenetics practice characteristics pre-COVID-19 pandemic to peak pandemic, and found that the use of telegenetics facilitated increased cascade screening of family members who did not live locally and may not otherwise have received genetic counseling and/or testing (Liang et al. 2022).

As telegenetics continues to be utilized even as social distancing is no longer required, further information is needed regarding the impact of this modality on patient experience and outcomes within cardiogenetics. In particular, for patients with positive genetic testing results for potentially life-threatening cardiovascular diseases, follow-up care is of critical importance in ensuring proper cardiac screening and management (Asatryan and Medeiros-Domingo 2019; Charron et al. 2002; Naukkarinen et al. 2006). Non-local patients are most vulnerable to loss to follow-up as they are responsible for seeking follow-up care with providers within their own local healthcare systems. The aim of this study was therefore to qualitatively evaluate the experiences of patients with positive genetic testing results who received telegenetics services at our institution during the COVID-19 pandemic and to compare the experiences of local vs. non-local patients.

Methods

A qualitative case study was conducted on genotype positive patients after receiving cardiogenetic counseling and testing at Columbia University Irving Medical Center (CUIMC) via telegenetics during the COVID-19 pandemic. Commercial genetic testing kits were mailed to patients with instructions on how to provide a saliva sample and return the testing kit. All study activities were approved by the CUIMC Institutional Review Board.

Participants

Eligibility criteria included English speaking adults who were identified to have a pathogenic or likely pathogenic mutation between April 1, 2020, and November 30, 2021, and completed genetic counseling and testing via telegenetics. Qualitative interviews were conducted a minimum of 2 months after an individual’s report date of their genetic testing results to provide sufficient opportunity for initiation of follow-up care. Participants with diverse cardiogenetic clinical indications were recruited to allow for broad insights based on maximum variation among the study population.

Procedures

A purposive sampling approach was utilized to recruit eligible participants. Eligible participants were recruited by phone or email, and a total of three attempts were made for each eligible participant. Participants who were interested in participating were provided the study consent form prior to the interview date to allow participants adequate time to review the consent form and have an opportunity to discuss any questions or concerns. Each participant was asked to provide verbal consent for participating in the qualitative interview, as well as being audio recorded. All interviews were audio recorded and transcribed using the Zoom software. Transcriptions were reviewed, checked, and verified against the recordings to correct any mistakes in the transcription (Zoom, 2021). Participants were assigned pseudonyms to protect their confidentiality, and all transcripts were de-identified and password protected. One study team member maintained access to the key that connected pseudonyms to participant demographic information.

Materials

An interview guide was developed by the study team to address the aims of this research study. The interview guide was piloted with genetics healthcare professionals, such as physicians and genetic counselors, who provide care to patients with inherited cardiovascular disorders. Feedback from the interview guide pilot allowed the research team to modify and improve the clarity of questions. The interview guide included questions about what motivated individuals to pursue genetic testing, their experience with remote cardiogenetic counseling and testing, and follow-up care after receiving positive genetic testing results. The full interview guide is included in Supplemental Materials.

Data analysis

Since the aim of this study was to understand the experiences of genetically positive patients who received telegenetics services, a grounded theory approach towards data analysis was undertaken. A predefined set of codes were generated from the interview guide using deductive coding (Creswell 2013; Creswell and Plano Clark 2017). Interview transcripts were coded using this a priori coding schema that was informed by the research questions and interview guide (Creswell 2013; Creswell and Plano Clark 2017). Transcripts were analyzed concurrently and iteratively. Half of the transcripts were double coded by two members of the study team to ensure coding alignment. The final half of the transcripts were single coded by a single study team member using the developed coding schema. As new information emerged from the interviews, inductive coding was utilized to generate new codes. A constant comparative method of data analysis allowed researchers to compare the a priori coding schema, emerging new codes, and interview data to allow for saturation among topics (Corbin and Strauss 2008).

Results

Participants

A total of 49 individuals met eligibility criteria for this study. Twelve individuals (24.5%) responded, scheduled, and completed an interview. Interviews lasted between 17 and 65 min. Half of the participants identified as female (n = 6). Participants represented a variety of cardiogenetic clinical indications including long QT syndrome (n = 2), hypertrophic cardiomyopathy (n = 2), familial hypercholesterolemia (n = 4), and thoracic aortic aneurysm (n = 2). Age at the time of receiving genetic testing results ranged from 27 to 67 years, with the majority (n = 8) being younger than 40. Half of study participants (n = 6) were local, which was defined as living within 100 miles of CUIMC. Demographic information can be found in Table 1.

Table 1.

Demographics and clinical characteristics of participants

	N	%
Gender:
Female	6	50
Male	6	50
Distance from CUIMCa:
Local	6	50
Non-local	6	50
Indication:
Long QT syndrome	2	16.67
Cardiomyopathy (HCMb, ARVCc, DCMd)	4	33.33
Familial hypercholesterolemia	4	33.33
Thoracic aortic aneurysms/dissections	2	16.67
Age (years old):
21–30	4	33.33
31–40	4	33.33
41–50	1	8.33
51–60	1	8.33
61–70	2	16.67

^aColumbia University Irving Medical Center

^bHypertrophic cardiomyopathy

^cArrhythmogenic right ventricular cardiomyopathy

^dDilated cardiomyopathy

With regard to participants’ past experience, all participants expressed being the most experienced with in-person healthcare visits, though our sample included participants with a range of stated comfort levels with both in-person and remote visits. The majority of participants (n = 8) had experience with cardiac care prior to receiving genetic testing results, such as undergoing an electrocardiogram, echocardiogram, or consultation with a cardiologist. An equivalent number of participants underwent visits related to genetic testing conducted by telephone, video, and a combination of these two modalities. Further details about participant experiences are included in Table 2.

Table 2.

Close-ended questions

	N	%
Type of healthcare visit an individual has experienced the most often
In-person	12	100
Remote	0	0
Type of healthcare visit an individual is most comfortable with
In-person	5	41.67
Remote	1	8.33
No preference	2	16.67
Depends on reason for visit	4	33.33
Type of remote cardiogenetics appointment
Telephone	4	33.33
Video	4	33.33
Both	4	33.33%
Experience with cardiac care prior to receiving genetic testing results
Yes	8	66.67
No	4	33.33

Motivations for pursuing genetic counseling

Two primary motivators were identified for participants to pursue cardiogenetic testing. The first was a cardiogenetic diagnosis in a family member:

My older brother, he came back positive with a rare heart condition and we decided as a family, because he got, I’m pretty sure, it was a pacemaker. And we decided to look into it, because we were told that it's genetic and it can pass through generations through the family, so we decided to get a jump on the ball I guess before it gets worse.

[34-year-old male, Local]

Well, my son was diagnosed with a genetic condition and part of trying to learn how he inherited the mutation that he has, was to be genetic tested.

[63-year-old female, Non-local]

The second was a healthcare provider’s recommendation:

My doctor suggested [the genetic testing] so that one was also one other factor that prompted me to do [the genetic testing].

[27-year-old male, Non-local]

Barriers to genetic counseling care

While some participants did not reference any factors that made it difficult to move forward with remote cardiogenetic testing, logistical barriers and emotional trepidation were mentioned by others:

The initial apprehension that this is becoming a bigger deal than what it is. […] it could have […] long term effects so going through the more specific testing, such as genetic testing, was uncomfortable.

[37-year-old male, Local]

I’m an active military. […] there is such a thing as genetic discrimination and there aren’t many laws protecting us and in place yet. […] it’s kind of like you’re putting your career in jeopardy.

[29-year-old male, Non-local]

Experiences of telegenetics care

Using both deductive and inductive coding, four topic summaries were identified from our analysis of the experiences of participants undergoing remote cardiogenetic counseling and testing.

Topic Summary 1: Modality of communication for telegenetics. Participants described several difficulties towards using technology for the cardiogenetics appointment including where they were located during the remote appointment, a lack of privacy, and internet connectivity issues.

There was not much privacy because the boys were home. So that was an issue for me [...] I think the problem for me personally was the environment I was in that made it difficult. [...] I had to suppress my feelings so that my kids will not see me, and that is what made it difficult. Not the technology. The technology is fine - phone, video. It's a matter of where you are in your surroundings.

[39-year-old female, Local]

There was a little bit of an audio issue, the video was fine. And towards the latter part of the call, it was kind of cutting out a little bit. […] So it was just the audio issue that I experienced a little bit, but it was fine because I was able to get all the information.

[37-year-old male, Local]

Some benefits discussed by participants included the ability to find information through the computer to make the cardiogenetic appointment more informative, and the ability to express more emotion through audio-only (for those who had telephone visits). Participants described how being at home in a comfortable space allowed the encounter to feel like a social conversation, which allowed them to open up more than they might have in a clinical setting.

I was able to look up certain things. So if the cardiologist wanted to know, […] I could go and look up previous results, because I had access to my computer as well and see kinds of trend in the test results. So that actually gave me extra information versus if I were [in an] in-person visit, I wouldn’t have been be on my computer while I’m speaking to the physician.

[37-year-old male, Local]

I think I was probably more open about answers because I wasn’t looking at anybody, I was just chit chatting […] And I was in my own home and I felt like I was having a nice conversation with a friend about my family. It didn’t feel like a doctor’s appointment. […] It felt like more of a social conversation. […].

[47-year-old female, Local]

Topic Summary 2: Convenience. The concept of convenience was acknowledged by many participants throughout different parts of the interviews. When discussing remote sample collection, packaging, and shipping, many described how easy the process was. Additionally, some referenced free shipping of the genetic testing sample as contributing to convenience.

It was pretty simple. Once I got the kit, it had all the instructions. It was really was very noninvasive. [...] All the equipment was there, the instructions were there, it was easy.

[37-year-old male, Local]

The instruction was pretty straightforward.[…] Everything was easy enough to understand and follow and I didn’t have any problem with it.

[67-year-old male, Non-local]

In addition, participants acknowledged the support of the genetic counselor and the cardiogenetic team which made the process easier to navigate.

The doctors and his team, I think, part of or the genetic testing team arranged everything. They took care of everything - contacted the insurance, they send the kits home and they took ever took care of everything. I didn’t have to do anything. I think that’s what made it easy to move forward with it.

[39-year-old female, Local]

Definitely, the institution that my son was at that just provided, just made it very easy for me to get the test, just told me what to do.

[63-year-old female, Non-local]

Other participants referenced free shipping of the genetic testing sample as contributing to convenience:

The instructions were clear. I just did it and I had my husband bring it for me. [...] I mean just the fact that they mail it right to you and you don’t have to pay. It comes with the return label and the box, everything you need to just send it back.

[38-year-old female, Local]

So it was free. I did it quick, easy from home. I mailed it out for free. It took me 30 seconds to do so there’s really no cons to doing it, I guess.

[27-year-old male, Non-local]

Participants also appreciated that the entire process could be done from their home, without having to travel to CUIMC, as well as reducing the chance of COVID exposure by not having to travel anywhere.

I guess it was easy that it was remote because I lived at the time in Wisconsin and I would probably not have flown to New York to do it. So that made it easy.

[28-year-old female, Non-local]

Well, it didn’t take up extra time in my life commuting on the subway getting there. You know, waiting in the waiting room. It was just fantastic.

[47-year-old female, Local]

Finally, participants referenced the convenience related to the physical and/or emotional comfort of their home.

Home’s a comfortable place, right. So it kind of reduces any anxiety of going to a doctor, I guess. So it’s nice to be home, I would say.

[27-year-old male, Non-local]

It was nice to be in my quote, unquote safe space with my wife. As opposed to being in some doctor’s office.

[29-year-old male, Non-local]

Topic Summary 3: Expectations, feelings, and life planning surrounding positive genetic testing results. While many participants expected their results to be positive, some hoped they would be negative, but understood the chances based on information discussed in the cardiogenetics appointment.

I was pretty much sure that I’m going to be tested as someone with […] having the high blood lipid problem, elevated LDL level, and genetically being prone to it.

[67-year-old male, Non-local]

Well, it was 50/50 right, so I was optimistic that I wouldn’t be a carrier, but I also was preparing myself for the fact that I could be. So that was my expectation, I guess.

[28-year-old female, Non-local]

A wide variety of feelings after receiving positive results were mentioned. Some participants indicated feeling shocked, while others were not surprised at all. Participants also acknowledged feelings towards their family members, such as worry about the risk to their children.

When I found out that I was positive, it didn’t do anything to me personally in thinking about how my health could be. It’s like I didn’t exist and immediately I started thinking about my boys, because I knew they would have to be tested [...] So when I got it, for me it didn’t do much - what I was doing was praying that [my kids] didn’t test positive.

[39-year-old female, Local]

A little worried that my daughters might have this gene. […] I was pretty worried about my kids.

[47-year-old female, Local].

The impact that positive genetic testing results would have on an individual’s daily life was also discussed, such as taking medications, restricting exercise, or being more aware of cardiovascular-related symptoms.

Well, the results themselves didn’t affect it other than I did get on the medication right away and my cholesterol is now down to zero. It’s in very much normal range or low for the first time in my life.

[60-year-old female, Local]

I guess I’m more aware of when my chest hurts, or when I get a sharp pain. I’m more aware of it now, because before I thought, maybe it was heartburn maybe it was something else. But now maybe I think... I’m aware that it might be something more than what I think it is. Because I have the knowledge that I have now about my family.

[34-year-old male, Local]

My activity level had to change, I can’t really weight lift anymore, I’m on medication now, I’ve been to like 12 different doctors, I’m getting discharged from the military, I have open heart surgery on the table.

[29-year-old male, Non-local]

In addition to daily life modifications, participants discussed how positive genetic testing results could impact their future including the decision to have children or to undergo surgery related to the genetic testing results.

The only thing that really was a little disappointing was the fact that it’s genetic and if I would ever have children down the road, the impact it could have on them.

[27-year-old male, Non-local]

I decided not to have more children so that’s a long-term thing. And then also like, I guess, eventually, I will need surgery so I’m kind of preparing mentally for that also.

[38-year-old female, Local]

Topic Summary 4. Follow-up care. It was within this final topic that a difference was noted between local and non-local participants. While all six local participants described getting appropriate follow-up care, only two out of the six non-local participants had obtained appropriate follow-up care at the time of the interviews. Participants within the catchment area of CUIMC described how the cardiogenetic care team coordinated referrals for cardiac imaging and follow-up appointments:

Well, I got all the referrals. When I got my results, I was very overwhelmed with the diagnosis, but [the cardiogenetics team] set me up with the providers so that part was easy. And then once I met with the providers, they just ordered all the tests, so that was also easy.

[38-year-old female, Local]

Well, Columbia has been easy in itself to get an appointment. I think they might have even called me to schedule the appointment. I think that’s how it was set up. I think they knew about me from my appointment with my cardiogenetic doctor. So I think they contacted me to schedule the appointment.

[38-year-old female, Local]

[The genetic counselor] referred me to the lead cardiologist and [the genetic counselor] even went above and beyond, because she contacted the secretary of the doctor herself. Gave her, the secretary, all of my information so that they will contact me directly to make an appointment. And that I am very appreciative of. Because at that moment, I mean it’s not that I don’t know how to do that, but at the moment, I was in an emotional state where it would take me two or three days to do that. She did that for me.

[39-year-old female, Local]

Non-local participants described a lack of access to follow-up care:

Because I moved to England and had to get a GP here and now I do have a GP so I can make an appointment with them, but I just haven’t done it yet.

[28-year-old female, Non-local]

I think the most difficult thing is that I have to go and then explain my situation to them. And I feel like I’m responsible for the transfer of information, which I don’t like. I prefer to just have it…. I don’t know, maybe just somehow they know the information […], rather than me having to be the one that remembers all of it and explains it and that feels like a burden.

[28-year-old female, Non-local]

I haven’t really done any follow up […] I’ve been meaning to get around to it, but life gets busy.

[27-year-old-male, Non-local]

Okay, so I got my positive results when my doctor was on holidays and it’s […] made it go on the back of my mind and kind of like being forgotten. So now that you mentioned it, I should probably reach my medical doctor here at Hopkins and try to schedule a cardiac test.

[27-year-old male, Non-local]

Both local and non-local participants discussed barriers to follow-up care services beyond finding providers and scheduling services. Other barriers included taking time from work, childcare issues, cost of services, and lack of insurance coverage.

Actually, getting the tests done has not been that easy because it’s kind of an all-day thing and it’s kind of a hassle. […] I have childcare issues and then also I had to go into Manhattan a few times and parking […] was difficult.

[38-year-old female, Local]

The echocardiogram I don’t know why I haven’t done it. [...] Maybe I’m just in denial, because I think it’s going to be normal. And the pain in the neck of doing it and the cost.

[63-year-old female, Non-local]

Even though they have a radiology department, they have a couple radiology [..] locations, shall I say, and they don’t do this testing at all the locations. So I had to call a couple times to get to the right location and actually sending the prescription- the issue, they only took fax which is very odd to me in this day and age. I thought an email attachment would suffice, but they only took fax.

[37-year-old male, Local]

Participants who had follow-up care described changes in their medical care as a result of the genetic testing and subsequent follow-up testing results.

I did get on the medication right away and my cholesterol is now down to zero. It’s in very much normal range or low for the first time in my life.

[60-year-old female, Local]

Nadolol—we’re both on it now and we both got EKGs.

[47-year-old female, Local]

I have had an echocardiogram. I’ve had a CT angio. I had an appointment with a cardiologist after those tests and I had a meeting yesterday with a cardiothoracic surgeon.

[29-year-old male, Non-local]

Discussion

This study explored the experiences of genotype positive individuals who underwent genetic counseling and testing via telegenetics during the first 22 months of the COVID-19 pandemic. Both local and non-local participants discussed similar benefits and drawbacks to the use of technology in telegenetics and overall found the use of telegenetics and at-home genetic testing to be convenient. Both groups also noted having to make changes in their daily lives and future planning as a consequence of the positive genetic testing results. However, access to follow-up care differed between local and non-local participants, with more local participants having scheduled and attended appointments with the appropriate medical providers compared to non-local participants.

Benefits and drawbacks to telegenetics

The experiences of the participants in this study corroborated findings from prior studies in telegenetics, demonstrating that patients appreciate the ease of use and decreased travel time offered by telegenetics (Allison et al. 2022; Bashshur et al. 2020; Danylchuk et al. 2021; Srinivasan et al. 2020). Several novel benefits were also identified by the participants in this study. First, the ability for patients to access their own electronic medical records during the appointment allowed for a more informative discussion between patient and provider, including tailored management recommendations for cardiac and extra-cardiac features, risk assessment for family members, and guidance for pharmacological, surgical, and reproductive decision-making. Second, the ability for patients to be in a comfortable space when speaking with a provider enhances communication and the provider-patient relationship which can contribute to improved health outcomes for patients (Teutsch, 2003). Third, the ease at which patients were able to collect, package, and mail their samples can increase the reach of genetic testing to individuals who cannot readily access a healthcare center as well as decrease the responsibilities of providers who do not have the time nor support to perform sample collection and shipment. However, a number of limitations still exist, including technology-related issues and communication barriers (Terry et al. 2019). On the provider side, since licensing requirements vary by state, providing telegenetics to patients out of state can be logistically complex (Bergstrom et al. 2020). In states that do not offer licensing to genetic counselors, such as New York state, patients may also need to be seen by a separate healthcare provider in order to fulfill department and institutional requirements for billing and reimbursement.

Barriers and facilitators to pursing appropriate follow-up care

This study revealed that although telegenetics allowed us to provide genetic counseling and testing services to patients beyond our prior catchment area, this did not necessarily translate into more patients receiving appropriate cardiac testing and follow-up. Importantly, non-local patients expressed a number of barriers to seeking follow-up care, including needing to find appropriate providers themselves as well as having to convey complex medical information to these new providers. The responsibility for patients with an array of health literacy levels to communicate complex medical information and advocate for services can cause patients to experience negative feelings such as stress and frustration. These emotions can further prevent patients from pursuing follow-up care for their inherited cardiovascular condition, thus leading to worsened health outcomes.

Conversely, local patients were able to have their appointments scheduled for them by the genetic counselors within the same hospital system. This highlights a key consideration for practitioners who offer genetic counseling and testing. While guidelines support the use of genetic testing in clinical practice, as well as cascade screening for at-risk relatives for cardiovascular conditions, the operationalization of such recommendations is less well-known (Musunuru et al. 2020). Thus, it is important for institutions to consider the downstream screening and testing that may be required for genetically positive individuals. A limiting factor towards this ease of follow-up care is if the institution conducting the genetic testing does not have the services available to perform the appropriate follow-up screening and testing.

In both local and non-local patients, prior experience with cardiac care also impacted follow-up, with those having received prior cardiac testing being more likely to pursue the recommended follow-up care. This may be due to a variety of factors including increased knowledge of the screening procedures which can translate to reduced negative emotions such as anxiety or fear regarding cardiac screening, as well as increased access to screening including a connection to individuals to assist with scheduling and healthcare professionals to perform the screening.

Implications for future practice

Prior studies in telegenetics have focused mainly on patient and provider experience with very limited information available on follow-up care after genetic testing results. Our study demonstrates that patients may be lost to follow-up after receiving their genetic testing results, and this seems to apply in particular to patients who do not live locally and to those with limited prior exposure to medical care. While telegenetics may provide increased access to genetic counseling and testing services, patients who receive positive genetic testing results must be followed up appropriately in order for these findings to translate into improved outcomes for patients with cardiac genetic conditions. For example, patients with untreated heterozygous familial hypercholesterolemia are at 10–20-fold increased risk for premature coronary artery disease and require lipid panel testing, as well as possible initiation of lipid-lowering therapy with close follow-up testing (Besseling et al. 2014). Furthermore, patients with conditions like long QT syndrome and hypertrophic cardiomyopathy are at an increased risk of sudden cardiac death and select patients may require implantation of a cardioverter-defibrillator for primary prevention (Asatryan and Medeiros-Domingo 2019; Ommen et al. 2020).

Moving forward, there will need to be more streamlined processes that can help to optimize follow-up care in non-local patients with positive genetic testing. As the volume of telegenetics increases, it may not be feasible to expect genetic counselors to be able to reach out to appropriate specialists in the patient’s area and help schedule appointments on their behalf. A more practical approach may be to get in touch with the patient’s primary care provider who could then coordinate further specialty care as needed. The genetic counselor should also provide the genetic testing results to the patient and provider in written form (either via e-mail or mailed letter). For those patients with limited prior experience receiving medical care, there may also be a role for the genetic counselor to provide educational materials and reassurance to help patients feel more prepared to seek follow-up care. In the long term, it would be beneficial to involve national societies in order to create a more connected system of referrals such that patients and genetic counselors can more easily identify appropriate follow-up providers.

Study limitations

Participants were interviewed after receiving their genetic testing results, which could have impacted their perceptions of the genetic counseling experience. A wide range of diagnoses were included which require different types of follow-up care (i.e., procedures, medications, imaging) and generalizability is limited by small sample numbers within each diagnosis. Furthermore, our study was only conducted in one center, so generalizability to other centers, including those outside of the USA, may be limited. Study recruitment was limited to patients seen during the height of the COVID-19 pandemic, which may have created additional barriers to follow-up care. In addition, volunteer bias may be present due to the methodology of recruitment in the study. Based on the qualitative methodology of the study, quantitative assessment of outcomes was also limited. Finally, phenotype data was not collected during the time of cascade screening; thus, there was limited knowledge as to the extent of the cardiac burden of disease for the proband’s family members. Genotype-positive individuals, via proband and cascade testing, were selected for this research to better understand follow-up care as genotype-positive individuals had an increased risk for symptoms as compared to genotype-negative individuals. To gain a comprehensive understanding of follow-up care post-genetic counseling and testing, future research should incorporate the perspectives and experiences of phenotype-positive genotype-negative individuals as well.

Conclusions

While the COVID-19 pandemic shifted the primary model of cardiogenetic service delivery to telehealth, this did not influence an individual’s motivation to pursue cardiogenetic testing. Providing cardiogenetic counseling and testing via telegenetics expanded access to patients from all over the USA. Supplying non-local patients access to remote cardiogenetic testing requires careful consideration in how to ensure proper follow-up care for genotype positive patients and may require the involvement of national professional or patient-centered organizations to help streamline the referral process. Cardiogenetic conditions can be life-threatening, and therefore, it is critical these patients receive follow-up care after a genetic diagnosis.

Supplementary Information

Below is the link to the electronic supplementary material.

Author contribution

DT performed the interviews, summarized and interpreted the results, and helped to write up the manuscript. LL and IK contributed to the study concept and design, helped interpret the results, and wrote up the manuscript. MR and AB contributed to the study concept and design, helped interpret the results, and critically revised the manuscript. All authors approved the manuscript. DT, LL, and IK had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

Data Availability

The data that support the findings of this study are available from the corresponding author, IK, upon reasonable request.

Declarations

Conflict of interest

The authors declare no competing interests.

Human subjects

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.