Delivering Telegenetics Services: Review and Synthesis of Best Practices

Abstract

Introduction:

Before the COVID-19 public health emergency, few genetics providers used telehealth. As a response to this, many genetics providers began conducting telehealth care, referred to as telegenetics, usually with guidance from their institutions but without specific guidance related to the uniqueness of genetic services.

Objectives:

The Telegenetics Workgroup of the National Coordinating Center for Regional Genetics Networks convened a panel of experts in the fields of telemedicine, genetics, and genomics to review the existing literature on telegenetics and synthesize best operating practices for medical geneticists, genetic counselors, and metabolic dietitians providing telegenetics services.

Methods:

The group searched PubMed using the terms “telegenetics,” “telemedicine + genetics,” and “telehealth + genetics.” The group also reviewed the Northeast Telehealth Resource Center’s telegenetics webliography. Websites were searched, including the American Telemedicine Association’s website, Center for Connected Health Policy, and National Telehealth Resource Center for position statements, standards documents, and guidelines. The group met frequently by videoconference and discussed the literature, and using expert consensus, the group determined best practices in providing telegenetics services.

Results:

These telegenetics best practices cover important aspects of telegenetics services, including, but not limited to, ongoing delivery of telegenetics services, use of special technology, legal and regulatory requirements, and considerations regarding special settings and circumstances in which telegenetics may be conducted.

Conclusions:

Recognizing the growing use of telegenetics and a future in which telegenetics continues to be part of the regular practice of genetics, this guide informs genetics providers of best practices for delivering telegenetics services to patients.

Introduction

Genetics and genomics are increasingly important fields of medicine. However, the professional genetics workforce is small and not well distributed geographically. As a result, meeting the increasing demand for genetic services is difficult, and many patients face challenges in accessing the genetics services they need.

Telemedicine is one way to improve access to health care services of all types, and many studies confirm the feasibility and effectiveness of this approach. ^{1 –4} The provision of genetics services by all types of genetics providers via telemedicine is known as telegenetics. Telegenetics can facilitate accomplishment of the “quadruple aim,” that is, improving patients’ experience, improving health outcomes, reducing costs without sacrificing quality, and improving the providers’ experience. ⁵ When used appropriately, telegenetics can also expand access to services, improve coordination and continuity of care, enhance the patient-centered medical home, and complement in-person encounters, particularly for patients with chronic conditions ⁶ and their families/caregivers.

Although there had been a number of studies demonstrating the effectiveness of telegenetics services, few providers offered genetics services via telemedicine before the COVID-19 pandemic. ^{7 –9} During the pandemic, however, many genetics providers rapidly implemented telegenetics services and are now interested in best practices to continue these services postpandemic. ¹⁰ To assist them, a panel of experts in the fields of telemedicine, genetics, and genomics was convened by the Telegenetics Workgroup of the National Coordinating Center for Regional Genetics Networks to review the existing literature on telegenetics and synthesize best operating practices for medical geneticists, genetic counselors, and metabolic dietitians when providing telegenetics services. The group searched PubMed using the terms “telegenetics,” “telemedicine + genetics,” and “telehealth + genetics.” The group also reviewed the Northeast Telehealth Resource Center’s telegenetics webliography. Websites were searched, including the American Telemedicine Association’s website and Center for Connected Health Policy, National Telehealth Resource Center for position statements, standards documents, and guidelines.

These telegenetics best practices cover important aspects of operating a telegenetics program, including but not limited to:

Ongoing Delivery of Telegenetics Services: Encounter types, staffing at both the originating site (where the patient is located) and the distant site (where the genetics provider is located), using technology to deliver synchronous (live) and asynchronous services, and quality of care for providers in different encounter types

Use of Special Technology: Mobile and peripheral devices

Legal and Regulatory Requirements for Telegenetics Services: Credentialing, privileging, licensure, patient privacy and confidentiality, risk management, and malpractice coverage and Health Insurance Portability and Accountability Act (HIPAA), consent for treatment, and parental and legal representative presence

Special Considerations: School-based services, evaluation for nonaccidental trauma, and preparedness for emergencies

These telegenetics best practices reference general telehealth operating principles/procedures and complement existing guidance from professional organizations and others, including the Health Resources & Services Administration (HRSA)-funded Telehealth Resource Centers, the Center for Connected Health Policy, and the National Telehealth Technology Assessment Resource Center. Groups such as the American Telemedicine Association (ATA) have published guidance for broad-based clinical, technical, and administrative telehealth operations. ¹¹ There are also Operating Procedures for Pediatric Telehealth available on the American Academy of Pediatrics website. ¹²

As is the case with in-person services, providing telegenetics services in a manner consistent with best practices will not always guarantee accurate diagnoses, appropriate clinical treatment, or optimal outcomes. Divergence from these best practices may be indicated under certain conditions, such as during emergency situations that call for prompt action on behalf of the patient. Technological advances may alter prevailing practices or provide new and expanded opportunities for telegenetics. The synthesis of best practices in this document does not purport to establish binding legal standards for the delivery of telegenetics services.

Ongoing Delivery of Telegenetics Services

Encounter types for telegenetics services include but are not limited to initial patient evaluation and diagnosis regarding suspected genetic disorders, genetic counseling, and follow-up management of patients with known genetic disorders. The providers who engage in these encounters typically include medical geneticists, genetic counselors, and genetic metabolic dieticians. These telegenetics best practices are addressed primarily to these providers while performing any or all the encounter types described.

Telehealth services, including telegenetics, are typically provided using software and hardware integrated into telehealth platforms that may or may not be integrated with other systems such as the electronic health record. Telehealth platforms used to provide synchronous (live) telegenetics services generally combine secure software, video cameras, display/computer screens, and microphones. The platforms used to provide asynchronous consults utilize “store-and-forward” technologies (e.g., secure email, electronic health record, and patient portals) for securely sharing images and text. Finally, there are platforms for remote patient monitoring devices that can be used asynchronously or synchronously to send physiological data securely through the internet. ATA has guidelines regarding these types of platforms, cameras, and microphones. ¹³

SYNCHRONOUS AUDIOVISUAL ENCOUNTERS

Synchronous encounters involve at least two sites, the originating site and the distant site. The originating site is where the patient or the patient and family is located and can be a hospital inpatient room, an intensive care unit, a hospital outpatient clinic, a provider office, a skilled nursing facility, a school clinic, or the patient’s home. The distant site is where the provider of the service, in this case the genetics provider, is located. That site can be a hospital, outpatient clinic, office, or home. It should be noted that reimbursement may be affected by the location of the originating site and by individual state requirements, particularly for genetics providers located out of state.

Before encounters, providers shall determine the appropriateness of telegenetics as a modality (i.e., confirm that the patient’s indication or problem can be adequately evaluated during a telegenetics encounter). If something is needed that cannot be obtained/assessed directly by the provider through telegenetics, such as conditions requiring palpation, providers should have a protocol in place that outlines how a telepresenter can assist, or should arrange for an in-person encounter. (A telepresenter is a medical professional or otherwise appropriately trained individual at the originating site who presents the patient to the provider[s] at the distant site).

Providers shall adhere to state and federal regulations and exercise appropriate clinical judgment with the patient, family, and telepresenter, if present, during any part of the physical exam that involves exposure of usually private anatomy (see section on Legal and Regulatory Requirements).

All diagnostic testing (including genetic and metabolic) and management offered or carried out shall be subject to the same rules and regulations that apply to in-person genetics services encounters at both the originating and the distant sites.

SYNCHRONOUS AUDIO-ONLY ENCOUNTERS

During the pandemic, the Centers for Medicare and Medicaid Services (CMS) allowed clinicians to provide virtual care using audio-only methods. ¹⁴ However, it was the consensus of the panel that clinicians should limit care using this modality to those situations in which audio communication alone can appropriately evaluate and manage the patient’s problem(s). It remains to be seen if CMS will extend the waiver after the public health emergency.

Medical interpretation services are frequently needed for synchronous telegenetics visits both audio-visual and audio only. The telegenetics provider shall follow state-specific requirements for the use of interpretation services but may utilize interpretation services as necessary in the absence of such state-specific requirements. Many providers find it ideal if the originating site can provide interpretation services in person. However, if in-person interpretation services are not available, interpretation can be provided virtually.

QUALITY OF CARE FOR ALL PROVIDERS IN SYNCHRONOUS TELEGENETICS ENCOUNTERS

Provider scope of practice, medication prescribing policies, and communication policies for telegenetics services are the same as for in-person encounters and are determined by state regulations and institutional credentialing. Providers are expected to provide the same quality of care for patients by telehealth as they would in person; this includes following all relevant practice guidelines.

A provider shall be licensed as applicable. Telehealth providers shall be credentialed and privileged as applicable (see section on Legal and Regulatory Requirements).

At the beginning of any telegenetics visit, providers should identify themselves by their names, their credentials, location, and the roles they will be playing in the encounter. The patient or their guardians should be asked to verify their identity and location.

To support a patient-centered medical home for all patients, telegenetics providers should communicate, in a timely manner, all the information from telegenetics encounters to each patient’s primary care provider, as well as to any other specialists involved in the patient’s care in order to ensure continuity and coordination among all providers, including genetic counselors or genetic metabolic dieticians.

It is a good practice to indicate the location of the originating site when documenting the encounter in the medical record at the distant site.

Following a clinical encounter, follow-up (including diagnostic studies, laboratory tests, and other diagnostic and management recommendations) should occur in the same manner as they normally would after an in-person encounter.

GENETIC COUNSELING SYNCHRONOUS ENCOUNTERS: SPECIAL CONSIDERATIONS

Many, but not all, states license genetic counselors, and different states’ licensure rules establish different scopes of practice for genetic counselors. This leads to many nuanced considerations for genetic counseling telegenetics. Circumstances can arise in which there are genetic counselor licensure requirements in both in the originating site state and the distant site state. In this case, it is recommended that genetic counselors are licensed in both states. In other instances, the originating site state will not have genetics counselor licensure, but the genetics counselor still needs to be licensed in the distant site state.

When the ordering of genetic testing is within the scope of practice for the genetic counselor at both the originating and the distant sites, the counselor can order the tests. In states that do not allow genetic counselors to be the “ordering provider” for genetic tests, the orders shall be written by another provider (e.g., a physician or nurse practitioner) who is licensed as an ordering provider in the state in which the originating site is located. In such cases, the genetic counselor should have a clear agreement in place with the designated ordering provider. This is to ensure that the ordering providers are made aware that they will be listed on genetic testing orders and have agreed to that.

GENETIC METABOLIC DIETICIAN SYNCHRONOUS ENCOUNTERS: SPECIAL CONSIDERATIONS

Genetic metabolic dieticians provide crucial care in managing patients with inborn errors of metabolism.

All telegenetics encounters carried out by genetic metabolic dieticians shall be practiced in accordance with the rules and regulations (e.g., state licensure) governing dieticians at both the originating and the distant sites when they provide in-person services. Genetic metabolic dieticians should also follow the same guidelines for telehealth as those followed by any other provider, as described in sections previously.

Genetic metabolic dieticians should be aware of and make patients aware of the unique aspects of telehealth encounters (e.g., how to be sure that weight, height, and head circumference measurements are accurate; how to address formula taste/smell issues; and/or how to assess or teach the measurement and mixing of foods).

ASYNCHRONOUS (STORE-AND-FORWARD) SERVICES

Store-and-forward telemedicine consultation involves a requesting provider collecting clinical information from a patient and sending it electronically to a consultant provider at another site for evaluation. The information collected may include medical history, laboratory test results, and images. The consultant provider is asked a specific question(s) by the requesting provider and sends an assessment and recommendations back to that provider, without interacting directly with the patient. The requesting provider is responsible for incorporating the consultant’s recommendations into a plan of care for the patient and for appropriate follow-up with the patient.

Patients should be informed that their provider is requesting store-and-forward consults.

Store-and-forward consultations shall be conducted using a HIPAA-compliant secure software platform. This is especially important when images are being shared.

Requesting and consulting providers shall decide whether to exclude certain types of cases from store-and-forward consultations where real-time (“live”) interaction may be more appropriate, such as observing gait, movement, or speech disorders, as well as other components of the physical exam requiring real-time evaluation.

Asynchronous direct patient-to-provider encounters are a developing model of telehealth, but guidelines for these encounters have not yet been established.

Use of Special Technology: Mobile Devices and Peripherals

As a result of the COVID-19 pandemic and the temporary relaxations in regulations it brought about, many patients and providers are now using telehealth platforms that operate on mobile devices, such as smartphones and tablet computers. There are, however, many issues to consider regarding the use of these devices for telegenetics services. Detailed information and best practices for addressing them are found in the ATA standards document. ¹⁴

Key points to consider include the following: All mobile devices used for telegenetics encounters shall have proper authentication, timeout thresholds, and data protection and shall be retained in the possession of the provider or securely stored. When using a mobile device for telegenetics encounters, any cameras and audio equipment shall meet ATA Core Guidelines standards, including appropriate security, such as antivirus software and personal firewall. Third, all software shall be updated regularly for security. Unless a provider has access to a specialized secure app, such as direct secure messaging, texting should not be used for communication of any identifiable protected health information (PHI), including data or patient image transmission. The ATA Core Operational Guidelines for Telehealth Services Involving Provider-Patient Interactions has further guidelines for mobile device use. ¹⁵

Many telegenetics visits do not require special examination equipment. If it is necessary to have specific examination equipment (e.g., otoscope, dermatoscope, stethophone, or stethoscope) to appropriately evaluate the patient, it should be in good working order and appropriate for the age and size of the patient. In addition, at least one individual should be present at the originating site who can operate the equipment in accordance with standard operating instructions, and provisions should be in place to help ensure patient comfort and cooperation. If the necessary equipment to appropriately evaluate the patient are not available, the patient should be referred to a provider or location where an appropriate evaluation can be carried out.

Legal and Regulatory Requirements for Telegenetics Services

The practice of telegenetics needs to be compliant with many legal and regulatory standards.

CREDENTIALING, PRIVILEGES, AND LICENSURE

Providers shall practice in accordance with federal, state, and local regulations related to their scope of practice.

Providers shall follow applicable federal and state laws regarding the conduct of telemedicine visits. For example, some states limit telemedicine visits to established patients only, whereas other states allow the establishment of a new provider–patient relationship via telemedicine.

Providers shall follow applicable laws regarding the need for licensure in the originating site and the distant site. Indian Health Service facilities and other federal agencies (e.g., Veterans Administration) might not require state licensure in the originating or the distant site if the provider is licensed in another state. However, licensure requirements should be investigated and clarified before any practice/organization undertakes the provision of telegenetics services. Similar considerations should be applied to genetic counselor licensure and genetic metabolic dietician licensure if required by the state where the originating site is located.

Providers shall determine whether there is a need for credentialing at the originating site and/or the distant site per Joint Commission standards.

Providers should ensure that the risk management and malpractice insurance of their organization or practice cover the provision of telemedicine services.

Special legal considerations may come into play if the patient is a minor. These considerations include consent-to-treatment, confidentiality, and, in certain circumstances, whether parents need to be informed about the process of a telemedicine encounter. These legal considerations vary from state to state, and providers should become familiar with them.

PATIENT PRIVACY AND CONFIDENTIALITY

In telemedicine, privacy, confidentiality, and security issues must be considered as they pertain to PHI; the patient’s location (e.g., home, clinic room); physical examinations; digital records; storage of video/data files; and audio and video stream. Telegenetics providers shall be well informed about best practices in telehealth privacy, confidentiality, and security in order to, at a minimum, identify privacy/confidentiality concerns, perform a privacy and security check before a telemedicine session, and explain privacy/confidentiality protections to their patients. ¹⁶ Operating procedures recommended for ensuring privacy, confidentiality, and security include establishing a business associate agreement (BAA) with telemedicine platform providers (see section on HIPAA); having technical controls, such as data encryption; securing all endpoints (e.g., laptops and tablets); maintaining compliance with the Health Information Technology for Economic and Clinical Health Act; ¹⁷ and having PHI theft/loss policies in place.

Providers shall comply with all federal and state laws and regulations regarding patient privacy and confidentiality. The telegenetics provider should be in a location that is private and allows for confidentiality. Background noises and distractions should be eliminated or minimized as much as possible. The patient/family should also endeavor to be in a private and quiet location that enables a confidential conversation and examination.

If the patient is attending a telegenetics visit at a health care facility, the facility should offer a private and confidential visit location, adhere to the American Disability Act, and appropriately accommodate those individuals present for the visit (including the patient, parents or guardians, and telepresenter) in a way that ensures accurate and understandable communication. If the visit is occurring in the patient’s home or other nonclinical location, the patient/family should be instructed to limit distractions, interruptions, and background noise as much as possible. Providers should ensure the patient is not in an unsafe location (e.g., driving a car).

Before beginning the visit, the telegenetics provider shall verify who is present at both the distant and originating sites. During the visit, it should be made clear to all participants who is joining or leaving the encounter.

Care should be taken that no personal health information that is not specific to the patient being seen is visible to the individuals taking part in the visit (e.g., no other patient information or charts are displayed on a whiteboard).

If appropriate privacy cannot be ensured for a telemedicine visit by both the patient/family and the provider, the provider should cancel the visit and help reschedule an alternative visit at a time and location in which privacy can be assured.

The official location for the medical record for each telegenetics encounter should be established in advance, and each visit should be documented in the medical record/EHR upon its initiation. Copies of the documentation of the telehealth visit may be kept in the medical record/EHR at either the originating or the distant site and should be accessible by the patient in the same manner as are all other medical records. The safety and privacy rules established for in-person medical record documentation apply to telemedicine encounters.

There may be additional state or federal regulations related to the security of patient privacy and confidentiality around “sensitive conditions,” including genetic disorders. Some of these regulations may include specific language related to care being delivered via telehealth. Providers shall comply with all such relevant regulations.

In the special circumstance of evaluation for possible child abuse or neglect, state laws dictate which specific agencies, such as child protective services or law enforcement, are permitted to receive the child’s PHI without the authorization of the legal guardian. ¹⁸ These laws apply to telehealth as well as to in-person visits.

HIPAA

HIPAA privacy regulations apply to health care providers utilizing telehealth for patient encounters, and providers shall meet the same requirements that guide the provision of in-person services. Ensuring privacy in the provision of genetics services may be even more important than it is for other types of medical services. Under HIPAA, health plans and providers are called HIPAA-covered entities. Entities may engage a business associate (BA) to help carry out health care activities and functions. ¹⁹

Telegenetics providers should be aware of the activities of HIPAA-defined BAs that are related to their services; these include parties that generate, obtain, transmit, or encounter PHI. Performing appropriate due diligence to understand the practices of potential BAs is recommended. A formal written BAA is an essential protection and should outline how other parties will protect PHI. ²⁰

In telehealth settings, relevant entities may include both the originating and the distant sites and BAs, such as technology companies or platforms. Regular risk assessment, training, and system reviews, or audits of the privacy and security practices of all relevant entities, are necessary to ensure that all videoconferencing and technology systems being used are HIPAA compliant. ¹⁹

Telegenetics providers should understand that HIPAA compliance for the encounter comprises physical, administrative, and technical practices within and between covered entities.

In a clinical telehealth setting, all staff, including but not limited to specialist providers and clinical presenters, shall be trained on how to handle, store, and share necessary medical information and documents within and between the sites in a HIPAA-compliant manner. If state regulations or institutional policies are more stringent than HIPAA, the state and/or institutional regulations/policies need to be followed. ²¹

See also ATA Core Operational Guidelines for Telehealth Services Involving Provider-Patient Interactions for further guidelines for mobile device use. ¹⁵

CONSENT FOR TREATMENT

At the beginning of every new or initial telegenetics encounter, consent to be seen and treated shall be obtained in accordance with all relevant state regulations for both the distant and the originating sites and institutional policies. Consent shall be carried out and documented before starting the visit. This process shall include ascertaining whether the patient is able to give consent (which could be affected by such factors as mental status or age) or whether someone else (e.g., parent or legal guardian/representative) is being designated to give consent. The provider shall inform the patient or designee about the patient’s rights and responsibilities related to the receipt of care via telemedicine.

Patients and families should be told that participation in a telehealth visit is voluntary and may be declined. A patient may opt out of a telemedicine visit at any time and request in-person services. However, provision of identical in-person services on the same day or at the same time or location may not be feasible and is not required to be available. Patients should be informed about all potentially relevant costs associated with a telemedicine visit.

PARENTAL/LEGAL REPRESENTATIVE PRESENCE

With few exceptions (e.g., emergency care), telegenetics providers shall obtain consent for the telegenetics visit from the parent or legal representative of a minor patient unless that child is legally authorized to consent to his/her own care. If a parent or legal representative is not present with the minor, mechanisms must be in place to ensure communication with the parent or legal representative immediately before the start of the visit. This individual may participate in the encounter either in-person or remotely via telephone, multipoint video, or other mechanism.

Mechanisms shall be in place to ensure that state-specific guidelines around a minor’s confidentiality are followed. For example, during a physical examination or during the intake of sensitive, protected information, the parent or guardian may be asked to temporarily leave the encounter and be notified when to rejoin the visit. If a parent/guardian is asked to leave the visit for some time and is unwilling to do so, the telegenetics provider should explain why the request is important and be prepared to end the encounter, if necessary, as he/she/they would during an in-person visit. If a telepresenter is participating in an encounter, the telepresenter may help facilitate patient privacy by ensuring that the parent/guardian has left the room (both physically and/or electronically) and by returning the parent/guardian to the encounter at the appropriate time.

Patients and providers may consider the use of headphones during an encounter to facilitate privacy if this does not interfere with appropriate interactions with the parent or legal representative. Visit participants should be documented in the encounter notes, including any requests for them to leave the visit, their compliance with those requests, and their return to the encounter.

Patient site telepresenters may identify a pediatric or dependent patient. Telegenetics providers shall identify themselves by name, credentials, and roles at the start of each visit.

Special Considerations

SCHOOL-BASED TELEHEALTH SERVICES

Telemedicine services are frequently provided in school settings. Telegenetics providers shall be aware that special rules apply in school settings because of the Family Educational Rights and Privacy Act (FERPA) regulations. ²²

As both HIPAA and FERPA regulations apply to school telehealth encounters, specific policies shall be developed between the school system and the telegenetics provider(s). Specific policies vary among schools and health services because of different staffing models for telemedicine encounters (e.g., school nurse present or absent).

The need for and appropriateness of parental participation in school-based telemedicine visits should be determined in the same manner as they are for face-to-face encounters (i.e., depending on age and physical or intellectual disability of the pediatric patient).

Appropriate consent shall be obtained for sharing information between the school and the provider; consent documents shall outline what information may be shared and why it will be shared. For example, it may be necessary to inform the school of a child’s diagnosis or have school staff collaborate with the provider in treating a condition (e.g., by allowing snacks in the classroom for a child who cannot wait until lunch or school dismissal to eat).

EVALUATION OF POSSIBLE NONACCIDENTAL TRAUMA

As in the case of an in-person medical encounter, when a genetic condition is relevant to the evaluation of possible nonaccidental trauma in a telemedicine encounter, HIPAA regulations are superseded by state child protective rules (see section on Patient Privacy and Confidentiality).

Store-and-forward guidance and additional institutional policies shall be used to regulate the use of telemedicine images captured in the subsequent evaluation of nonaccidental trauma.

EMERGENCY CONTINGENCIES

Medical emergencies during a telegenetics clinic visit are unlikely; however, it is a best practice for providers to have an emergency plan for telehealth encounters. Typically, this plan will reflect emergency protocols at the originating site. If an emergency occurs, the provider should try to stay connected to the originating site and provide medical advice as appropriate until care is transferred to a provider equipped to deal with the emergency. Telegenetics providers should have a plan in place to remotely address emotional stress that may arise during a telegenetics encounter.

Conclusions

Telegenetics can improve access to care in the face of a variety of challenges, including uneven distribution of genetics providers. Efforts to expand the use of telehealth, including telegenetics, have been underway for years, but the current COVID-19 epidemic has led to a significant increase in the use of telehealth as a way of providing care while protecting patients and providers from exposure to infection. Telegenetics is not a universal substitute for in-person visits; certain aspects of physical examination and interpersonal communication lend themselves best to in-person encounters. However, there are instances in which telegenetics may be superior to in-person visits, for example, when a patient with a known diagnosis has issues with transportation or mobility or when a patient is on a special diet and a video link into the kitchen can be used to explore the mixing of formula and choice of foods in the home. Recognizing the growing use of telegenetics because of the COVID-19 pandemic and looking forward to a future in which telegenetics continues to be part of the regular practice of genetics, the authors have presented this guide to best practices for telegenetics. We anticipate that future developments in technology and in policies regarding the use of technology in health care will require updates to these recommendations.