An evidence‐based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling

Abstract

There are currently no practice guidelines available for genetic counseling using telehealth modalities. This evidence-based practice guideline was developed in response to increasing use of alternative service delivery models for genetic counseling, specifically telephone and video-based genetic counseling (telehealth genetic counseling or THGC). A recent systematic evidence review (SER) compared outcomes of THGC with in-person genetic counseling and found that for the majority of studied outcomes, THGC was a non-inferior and comparable service delivery model. The SER results were used to develop this guideline. The current and anticipated future use of THGC, including the influence of the COVID-19 pandemic, provides the context for this guideline. Recommendation: The Telehealth Practice Guideline author workgroup conditionally recommends telehealth genetic counseling, either via telephone or video, as a delivery method for genetic counseling. Depending on factors unique to individual healthcare systems and provider and patient populations, THGC may be the only service delivery model available or may be utilized in addition to other service delivery models including in-person genetic counseling. The evidence shows large desirable effects, minor undesirable effects, and increased equity for patients when THGC is available. THGC may reduce or remove existing barriers to patient access to genetic counseling, such as medical conditions and/or disabilities that may affect a patient's ability to travel, inflexible work or school schedules, and lack of reliable transportation, finances, or dependent care. THGC is likely acceptable to key groups impacted by its use and is feasible to implement. Certain patient populations may require additional resources or encounter more barriers in using telemedicine services in general.For these populations, THGC can still be a valuable option if solutions are available.

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

“…The increasing complexity of prenatal screening and the associated genetic counseling workload has been observed in many settings, particularly where expanded NIPT options are available. Further research into alternative genetic counseling delivery techniques such as telehealth, web‐based educational videos, and computerized decision aids is needed to help meet the growing demand for prenatal genetic counseling services 98–101 …”

Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine

“…Unfortunately, access to genetic counselors is frequently hampered by geographical location, cost/insurance limitations, and familial or office visit time constraints. [8][9][10][11] With the rapid advances in CF genetics, 4 as well as diagnostic challenges related to genotypes with variable phenotypes, genetic counselors who are current with the most recent CF Foundation guidelines are critical to providing families with accurate and thorough genetic information about CF. 6 To address the access and expertise issues, GC via telemedicine is an appealing option, as it can provide access to highly knowledgeable and skilled individuals who are in a separate location from the patient.…”

“…Telemedicine is an effective modality for provision of GC services. [8][9][10] Initial randomized trials of telemedicine efforts by Buchanan et al in 2015 8 showed comparable satisfaction with service provision between in-person and telemedicine GC but noted decreased no-show rates for patients randomized into in-person versus telemedicine appointments for cancer GC. Comparison of costs showed significantly lower costs of service via telemedicine, despite the inclusion of IT costs for telemedicine.…”

“…8 | 3479 telemedicine. 10,12 Common themes included physical access and reimbursement including funding concerns. 9 These topics were also discussed by the CF Newborn Screening GC Working Group in the production of their guidelines.…”

“…9 These topics were also discussed by the CF Newborn Screening GC Working Group in the production of their guidelines. 6,10 Most CF care centers do not have sufficient funding or access to an available, dedicated on-site genetic counselor (personal communication). In the centers that do have a dedicated genetic counselor, those counselors take a lead in many areas of patient care, including the CF newborn screening program.…”