The Next Evolution of Hereditary Cancer Genetic Testing Service Delivery: A Descriptive Study of a Primary Collaborative Care Model for Telegenetics

The Next Evolution of Hereditary Cancer Genetic Testing Service Delivery: A Descriptive Study of a Primary Collaborative Care Model for Telegenetics | medRxiv /* */ /* */ <!-- <!-- /*! * yepnope1.5.4 * (c) WTFPL, GPLv2 */ (function(a,b,c){function d(a){return"[object Function]"==o.call(a)}function e(a){return"string"==typeof a}function f(){}function g(a){return!a||"loaded"==a||"complete"==a||"uninitialized"==a}function h(){var a=p.shift();q=1,a?a.t?m(function(){("c"==a.t?B.injectCss:B.injectJs)(a.s,0,a.a,a.x,a.e,1)},0):(a(),h()):q=0}function i(a,c,d,e,f,i,j){function k(b){if(!o&&g(l.readyState)&&(u.r=o=1,!q&&h(),l.onload=l.onreadystatechange=null,b)){"img"!=a&&m(function(){t.removeChild(l)},50);for(var d in y[c])y[c].hasOwnProperty(d)&&y[c][d].onload()}}var j=j||B.errorTimeout,l=b.createElement(a),o=0,r=0,u={t:d,s:c,e:f,a:i,x:j};1===y[c]&&(r=1,y[c]=[]),"object"==a?l.data=c:(l.src=c,l.type=a),l.width=l.height="0",l.onerror=l.onload=l.onreadystatechange=function(){k.call(this,r)},p.splice(e,0,u),"img"!=a&&(r||2===y[c]?(t.insertBefore(l,s?null:n),m(k,j)):y[c].push(l))}function j(a,b,c,d,f){return q=0,b=b||"j",e(a)?i("c"==b?v:u,a,b,this.i++,c,d,f):(p.splice(this.i++,0,a),1==p.length&&h()),this}function k(){var a=B;return a.loader={load:j,i:0},a}var l=b.documentElement,m=a.setTimeout,n=b.getElementsByTagName("script")[0],o={}.toString,p=[],q=0,r="MozAppearance"in l.style,s=r&&!!b.createRange().compareNode,t=s?l:n.parentNode,l=a.opera&&"[object Opera]"==o.call(a.opera),l=!!b.attachEvent&&!l,u=r?"object":l?"script":"img",v=l?"script":u,w=Array.isArray||function(a){return"[object Array]"==o.call(a)},x=[],y={},z={timeout:function(a,b){return b.length&&(a.timeout=b[0]),a}},A,B;B=function(a){function b(a){var a=a.split("!"),b=x.length,c=a.pop(),d=a.length,c={url:c,origUrl:c,prefixes:a},e,f,g;for(f=0;f<d;f++)g=a[f].split("="),(e=z[g.shift()])&&(c=e(c,g));for(f=0;f<b;f++)c=x[f](c);return c}function g(a,e,f,g,h){var i=b(a),j=i.autoCallback;i.url.split(".").pop().split("?").shift(),i.bypass||(e&&(e=d(e)?e:e[a]||e[g]||e[a.split("/").pop().split("?")[0]]),i.instead?i.instead(a,e,f,g,h):(y[i.url]?i.noexec=!0:y[i.url]=1,f.load(i.url,i.forceCSS||!i.forceJS&&"css"==i.url.split(".").pop().split("?").shift()?"c":c,i.noexec,i.attrs,i.timeout),(d(e)||d(j))&&f.load(function(){k(),e&&e(i.origUrl,h,g),j&&j(i.origUrl,h,g),y[i.url]=2})))}function h(a,b){function c(a,c){if(a){if(e(a))c||(j=function(){var a=[].slice.call(arguments);k.apply(this,a),l()}),g(a,j,b,0,h);else if(Object(a)===a)for(n in m=function(){var b=0,c;for(c in a)a.hasOwnProperty(c)&&b++;return b}(),a)a.hasOwnProperty(n)&&(!c&&!--m&&(d(j)?j=function(){var a=[].slice.call(arguments);k.apply(this,a),l()}:j[n]=function(a){return function(){var b=[].slice.call(arguments);a&&a.apply(this,b),l()}}(k[n])),g(a[n],j,b,n,h))}else!c&&l()}var h=!!a.test,i=a.load||a.both,j=a.callback||f,k=j,l=a.complete||f,m,n;c(h?a.yep:a.nope,!!i),i&&c(i)}var i,j,l=this.yepnope.loader;if(e(a))g(a,0,l,0);else if(w(a))for(i=0;i (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0];var j=d.createElement(s);var dl=l!='dataLayer'?'&l='+l:'';j.src='//www.googletagmanager.com/gtm.js?id='+i+dl;j.type='text/javascript';j.async=true;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-P4HH5NV'); Skip to main content Home About Submit ALERTS / RSS Search for this keyword Advanced Search The Next Evolution of Hereditary Cancer Genetic Testing Service Delivery: A Descriptive Study of a Primary Collaborative Care Model for Telegenetics Daniel Chavez-Yenter , Kevin Oeffinger , Brian Egleston , Elisabeth McCarty Wood , Sarah Howe , Sarah Brown , Janice Christiansen , Cara Cacioppo , Michelle Weinberg , Elena Elkin , Linda Fleisher , Rajia Mim , Santina Hernandez , Demetrios Ofidis , Dominique Fetzer , Tara O. Henderson , Angela Bradbury doi: https://doi.org/10.1101/2025.10.21.25338486 Daniel Chavez-Yenter 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania 2 Department of Medical Ethics & Health Policy, Perelman School of Medicine, University of Pennsylvania PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Kevin Oeffinger 3 Department of Medicine, Duke University MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Brian Egleston 4 Fox Chase Cancer Center, Temple University PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Elisabeth McCarty Wood 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site Sarah Howe 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site Sarah Brown 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site Janice Christiansen 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site Cara Cacioppo 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site Michelle Weinberg 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site Elena Elkin 5 Department of Health Policy and Management, Mailman School of Public Health, Columbia University PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Linda Fleisher 4 Fox Chase Cancer Center, Temple University PhD Find this author on Google Scholar Find this author on PubMed Search for this author on this site Rajia Mim 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania MS Find this author on Google Scholar Find this author on PubMed Search for this author on this site Santina Hernandez 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania Find this author on Google Scholar Find this author on PubMed Search for this author on this site Demetrios Ofidis 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania BA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Dominique Fetzer 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania BA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Tara O. Henderson 5 Department of Health Policy and Management, Mailman School of Public Health, Columbia University MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site For correspondence: chavezyd{at}pennmedicine.upenn.edu Angela Bradbury 1 Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania 2 Department of Medical Ethics & Health Policy, Perelman School of Medicine, University of Pennsylvania MD Find this author on Google Scholar Find this author on PubMed Search for this author on this site For correspondence: chavezyd{at}pennmedicine.upenn.edu Abstract Full Text Info/History Metrics Data/Code Preview PDF Abstract Clinical genetic testing demand has increased in the era of precision medicine. However, availability of cancer genetic services remains limited in the US, prompting a rise in telehealth delivery. This report describes the Penn Telegenetics Program experience using a local healthcare provider collaborative model. From 2018-2025, 473 providers (89.4%) successfully registered. Providers were predominately MD/DO licensed (85.0%). Family medicine was the most frequent speciality (54.3%), followed by internal medicine (20.9%) and clinical oncology (11.8%). Most providers were in suburban locations by zip codes (56.2%), 20.1% were in rural zip codes. Only 56 providers declined collaboration (10.6%); the most common reasons reported were preferring local genetic services (22.5%) and not being comfortable as the ordering provider (22.5%). Our data demonstrate that most local providers are willing to collaborate with a centralized telegenetics program. Refining procedures to increase collaborative care and engagement may provide opportunities to increase access to cancer genetic testing. Given the exponential growth of genetic testing services and the limited availability of genetic counselors (GCs) in many areas, there has been an increased interest in providing clinical genetic services via telehealth. 1 – 3 Many genetic programs offer remote services within their state, but broader provision of services are limited by state licensure requirements and limited reimbursement for genetic counseling and telehealth services. Additionally, successful implementation of genetic testing includes changes to screening and risk reduction based on test results, which ultimately requires collaboration with local primary care providers (PCPs) 4 . The Penn Telegenetics Program was founded in 2012 to expand genetic services to community practices without access to genetic counselors. 5 Initially, remote services were provided on-site in collaboration with specific practices and providers. 6 As the program expanded, we sought to provide services nationally to patients who meet clinical guidelines for genetic testing and have limited access to genetic services. Further, we sought to allow patients to self-refer to the program. To achieve this expanded access, we developed the in-home collaborative PCP or local provider (PCP/LP). 7 This delivery model addresses licensure requirements (the GC and physician must be licensed in the state that the patient resides), provides care in the home and allows patients across the U.S. - regardless of location or proximity to a participating clinic - to access remote telegenetic services with their PCP/LP. 7 This in-home collaborative PCP/LP model of care has been used across multiple research studies providing remote cancer genetic services across the US through the Penn Telegenetics Program (see Table 1 ) 7 – 9 . In this brief report, we report procedures and our initial experience implementing the in-home collaborative PCP/LP model across four research studies. View this table: View inline View popup Table 1. Characteristics of providers who agree to registration and collaboration with the Penn Telegenetics Program Our procedures have been informed by the ENGAGE 7 Study PCP Advisory Board, but applied across all the research studies. Patients enrolling on each of the four research studies are requested to provide the name and contact information for their local PCP/LP. The research team contacts the office to confirm the mutual patient and then faxes a registration packet, which includes an informational flyer and the provider registration form (which can be completed by office staff). The one-page flyer describes the Telegenetics program, what we are asking of local providers and how they can contact the team for any questions. The registration form requests: the providers name, provider type (MD, DO, NP, PA, etc), provider speciality, practice contact information and address, gender, and practice type. Registration is considered part of clinical care and not direct engagement in research, as these procedures could be utilized if we were providing clinical billable services. If the registration form is not returned, the research team contacts the providers office to confirm receipt and remind the office that testing can’t proceed without the provider registration. If provider’s decline, the Penn telegenetics physician attempts to contact the local provider directly to discuss the value of testing and address any concerns. Reasons for declining registration, as reported by the office staff or provider, are recorded. If a provider declines or can’t be reached, patients are contacted to see if they would like to provide a second local provider. Patients complete pre-test counseling according to individual study procedures. The GC coordinates with the patient to select the appropriate testing and to order the test, including the local provider on the test requisition with the GC. Genetic test results are shared with the patient by the Penn GC via telehealth or digital platforms according to study protocols. All patients have the option to speak directly with a GC, even if randomized to a digital visit. GCs are licenced in US states as required by state licensure laws. The GC pre-test counseling visit note, disclosure visit note and test results are faxed to the local provider. Registration attempts and successful registrations are recorded in study databases. Categorical data includes provider type, speciality, practice location, gender, and practice type. Reasons for declining registration and testing are recorded when available. Categorical data are presented descriptively. Chi-square tests were used to test across categorical data and Generalized Estimating Equation models for repeated measures by study in Table 1 . Qualitative reasons for refusal were open coded by two investigators (DCY, AB) for analysis. Across the studies employing the in-home collaborative PCP/LP model (2018-2025), 529 providers were contacted, with 473 providers (89.4%) successfully registered ( Table 1 ). Providers were predominately MD/DO licensed (85.0%). Most came from a group practices (51.0%) or multi-specialty practices (22.8%). Family medicine was the most frequent speciality (54.3%), followed by internal medicine (20.9%) and oncology (11.8%). Most providers were in suburban locations by zip codes (56.2%) and 20.1% were in rural areas. Only 4 states, Nebraska, Oregon, South Dakota, and Hawaii did not have any registered providers. Noted significant differences across studies in provider characteristics were in practice setting location (p=.005), provider speciality (p<.001), type of practice (p<.001), and region setting (p<.001). Provider specialities varied by study, reflecting the populations recruited. For example, ENGAGE had higher representation among PCPs, while eREACH1 (recruiting patients with metastatic cancer) included higher representation from oncology. Although most local providers were willing to register and collaborate with the program to facilitate genetic testing for their patients, 10.6% of providers declined registration resulting in their patient not receiving genetic testing through our program ( Table 2 ). The most frequent reasons for declining registration were the provider’s preference for local genetic testing services (22.5%) and not being comfortable being on the genetic testing requestion form (22.5%). Some providers reported they needed to see or speak with the patient before testing (14.1%). In some cases, patients reported that they had spoken with their local provider and decided not to pursue genetic testing (14.1%). Other reasons for failed registrations included the provider no longer being at the practice or not being able to reach the provider after multiple attempts. View this table: View inline View popup Download powerpoint Table 2. Reasons for providers declining registration and collaboration with the Penn Telegenetics Program (n=56) Among registered providers, we did not receive any requests from providers for additional information about test results or recommendations. We also did not receive subsequent referrals for testing in new patients in provider practices. These data demonstrate that the collaborative in-home PCP/LP telegenetics delivery model is feasible and has potential to improve access to genetic testing across the US. Our data demonstrate that the large majority of local providers are willing to register with the program and provide access to genetic testing for their patient. The success might be due to some PCPs interest in testing for their patients but low comfort or training in genetics. 10 – 12 Willingness may also have been related to the low burden for the local practice. 11 Future work to understand local providers motivations, perceptions and experience engaging with telegenetics programs could be helpful. Still, we did encounter a subset of PCPs that declined to collaborate with the telegenetics program. Some providers refused given a preference for using local genetic testing services, although we don’t know if patients ultimately completed testing. Some reported not being comfortable being on the test requisition. It may be useful to develop materials for the patient to share with the PCP/LPs when discussing the testing process. This may prompt mutual informed decision making between patient and provider, greater willingness for providers to collaborate and subsequent testing. Interviews with local providers could provide additional insights and areas for improvement. Representing a potential missed opportunity, we have not received follow-up contact from local providers, nor have registered providers referred other patients. We had hoped that providers would see the service as a low-burden for them and of benefit for their individual patients. It could be that providers felt comfortable modifying medical care based on the genetic test results. or it may not be impacting care at all. Unfortunately, we don’t know at this time how providers used the results or GC notes that we sent. 13 Several studies are collecting longitudinal behaviors, which could provide insights when these data are available. Limited referrals and engagement could be due to time constraints in busy local practices 14 , 15 , limited interest in genetic testing 16 , or lack of training in genetic medicine 17 or identification of ideal candidates for genetic testing 11 , 12 , 18 . While the program has been successful, we believe there are areas for improvement. Future qualitative research will include interviews with providers to understand their perceptions of the program, and their perceived barriers and facilitators to testing uptake. It will also be important to understand their perceived utility of genetic testing, and how it impacts their local workflow. Interviews may also provide insights on how we can improve our collaborative model to better address provider questions and reservations. Connecting with other practice members (e.g. nurses or office staff) or providing educational content for providers could be beneficial to increasing uptake of the program. These data demonstrate that most local providers are willing to collaborate with a centralized cancer genetics program to provide remote genetic services to their patients in the home. Refining procedures or increasing engagement may provide opportunities to increase willingness among local providers and to facilitate additional referrals and access to genetic services in community practices. Data Availability All data produced in the present work are contained in the manuscript Footnotes * Senior Authors References 1. ↵ Gorrie A , Gold J , Cameron C , Krause M , Kincaid H. Benefits and limitations of telegenetics: A literature review . J Genet Couns . 2021 ; 30 ( 4 ): 924 – 937 . doi: 10.1002/jgc4.1418 OpenUrl CrossRef PubMed 2. Flannery D , Alverson D , Greene C , et al. Delivering Telegenetics Services: Review and Synthesis of Best Practices . Telemed J E-Health Off J Am Telemed Assoc . 2024 ; 30 ( 8 ): e2232 – e2239 . doi: 10.1089/tmj.2024.0110 OpenUrl CrossRef 3. ↵ Singh T , Freeman JQ , Akhiwu T , et al. Telehealth utilization and cancer genetic testing discussion and uptake in US adults . 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Genet Med . 2025 ; 27 ( 4 ): 101307 . doi: 10.1016/j.gim.2024.101307 OpenUrl CrossRef PubMed 18. ↵ Rodriguez NJ , Ricker C , Stoffel EM , Syngal S. Barriers and Facilitators to Genetic Education, Risk Assessment, and Testing: Considerations on Advancing Equitable Genetics Care . Clin Gastroenterol Hepatol Off Clin Pract J Am Gastroenterol Assoc . 2023 ; 21 ( 1 ): 3 – 7 . doi: 10.1016/j.cgh.2022.10.025 OpenUrl CrossRef View the discussion thread. Back to top Previous Next Posted October 23, 2025. Download PDF Data/Code Email Thank you for your interest in spreading the word about medRxiv. NOTE: Your email address is requested solely to identify you as the sender of this article. Your Email * Your Name * Send To * Enter multiple addresses on separate lines or separate them with commas. 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