Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery.

INTRODUCTION: The high demand for genetic tests and limited supply of genetics professionals has created a need for alternative service delivery models. Digital tools are increasingly being used to support multiple points in the genetic testing journey; however, none are transferable across multiple clinical specialties and settings nor do they encompass the entire trajectory of the journey. We aim to evaluate the effectiveness of the Genetics Adviser, an interactive, patient-facing, online digital health tool that delivers pre-test counselling, provides support during the waiting period for results, and returns results with post-test counselling, encompassing the entire patient genetic testing journey. METHODS AND ANALYSIS: We will compare the Genetics Adviser paired with a brief genetic counselling session to genetic counselling alone in a randomised controlled trial. One hundred and forty patients who previously received uninformative genetic test results for their personal and family history of cancer will be recruited from familial cancer clinics in Toronto and offered all clinically significant results from genomic sequencing. Participants randomised into the intervention arm will use the Genetics Adviser to learn about genomic sequencing, receive pre-test counselling, support during the waiting period and results, supplemented with brief counselling from a genetic counsellor. Participants in the control arm will receive standard pre-test and post-test counselling for genomic sequencing from a genetic counsellor. Our primary outcome is decisional conflict following pre-test counselling from the Genetics Adviser+genetic counsellor or counsellor alone. Secondary outcomes include: knowledge, satisfaction with decision-making, anxiety, quality of life, psychological impact of results, empowerment, acceptability and economic impact for patients and the health system. A subset of patients will be interviewed to assess user experience. ETHICS AND DISSEMINATION: This study has been approved by Clinical Trials Ontario Streamlined Research Ethics Review System (REB#20-035). Results will be shared through stakeholder workshops, national and international conferences and peer-reviewed journals. TRIAL REGISTRATION NUMBER: NCT04725565.

The use of telemedicine in cardiogenetics clinical practice during the COVID-19 pandemic.

BACKGROUND: The COVID-19 pandemic has necessitated the rapid and widespread adoption of novel mechanisms of service delivery, including the use of telemedicine. The aim of this study was to examine the impact of COVID-19 on cardiogenetics practices. METHODS: We retrospectively analyzed the clinical characteristics of patients who were seen for cardiogenetics visits pre-pandemic (1 April-23 December 2019) and during the pandemic (1 April-23 December 2020) at Columbia University Irving Medical Center. RESULTS: Six percent (n = 6) of visits in 2019 were remote telemedicine encounters, whereas 80% (n = 106) of visits in 2020 were telemedicine encounters. In 2019, only 18% (n = 19) of the patients seen for genetic counseling were family members of probands; this percentage increased to 34% in 2020 (n = 45; p = .01). In 2020, the geographic reach of genetic counseling also extended far beyond New York State, reaching a total of 11 states as well as one patient in Puerto Rico. Genetic testing results were similar in 2019 and 2020. CONCLUSION: Despite the health-care delivery barriers created by the COVID-19 pandemic, the use of telemedicine allowed us to expand the reach of cardiovascular genetic counseling and testing.

COVID-19 and the adaptive evolution of genetic counseling.

Emerging diseases such as the Coronavirus Disease (COVID-19) have exposed severe weaknesses in the United States and global health. Healthcare systems have struggled and are still severely challenged and strained by this pandemic. It is clear that additional resources are needed to support healthcare providers in managing this and future pandemics. Genetic counselors can play an important supporting role in this fragile ecosystem because their comprehensive and broad training makes them uniquely qualified to meet many of the challenges that arise when healthcare workers and patients are faced with novel diseases. This paper describes the recent involvement of a telegenetic counseling company (Metis Genetics) in communicating and explaining COVID-19 serum antibody results to patients and physicians. This experience demonstrates how genetic counselors may be called upon to play a vital supporting role in the management of infectious disease pandemics. From May 2020 to July 2020, our genetic counseling telegenetics team was asked to provide support to more than 1,580 patients who underwent serum COVID-19 antibody testing and to educate their healthcare providers on the performance properties of this new test. The genetic counselors were able to utilize their expertise to convey test results, information on Center for Disease Control and Prevention (CDC) recommendations, COVID-19 fact-based evidence, to provide psychological support and reassurance to patients, and to respond to providers questions about the test. This experience suggests that the genetic counselors' skillset that has allowed the profession to continuously evolve can also be used in the management of pandemics by communicating directly with the public, supporting other healthcare workers, and assisting individual patients and families navigate the many medical and psychological issues caused by such events.

Patient-focused pathogen genetic counselling-has the time come?

Ensuring accordance with principles of healthcare ethics requires improved communication of pathogen genomic data. This could include educating healthcare professionals in communicating pathogen genomic information to individuals, developing ethical frameworks for reporting pathogen genomic results to individuals, responsible media reporting guidelines, and counselling for individuals ('pathogen genetic counselling').

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19.

The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID-19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow-up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists, genetic counselors, and biochemical dietitians, together and separately. This allowed the program to develop detailed standard operating procedures. At the onset of the COVID-19 pandemic, this pilot-program was deployed by the full team of 22 providers in one business day. Two physicians remained on-site for patients requiring in-person evaluations. This model optimized patient safety and workforce preservation while providing full access to patients during a pandemic. We provide initial data on visit numbers, types of diagnoses, and no-show rates. Experience in this implementation before and during the pandemic has confirmed the effectiveness and value of telemedicine for a highly complex medical population. This program is a model that can and will be continued well-beyond the current crisis.

Genetic counseling during COVID-19 pandemic: Tuscany experience.

BACKGROUND: COVID-19 outbreak prompted health centres to reorganize their clinical and surgical activity. In this paper, we show how medical genetics department's activity, in our tertiary pediatric hospital, has changed due to pandemic. METHODS: We stratified all our scheduled visits, from March 9th through April 30th, and assessed case-by-case which genetic consultations should be maintained as face-to-face visit, or postponed/switched to telemedicine. RESULTS: Out of 288 scheduled appointments, 60 were prenatal consultations and 228 were postnatal visits. We performed most of prenatal consultations as face-to-face visits, as women would have been present in the hospital to perform other procedures in addition to our consult. As for postnatal care, we suspended all outpatient first visits and opted for telemedicine for selected follow-up consultations: interestingly, 75% of our patients' parents revealed that they would have cancelled the appointment themselves for the fear to contract an infection. CONCLUSIONS: Spread of COVID-19 in Italy forced us to change our working habits. Given the necessity to optimize healthcare resources and minimize the risk of in-hospital infections, we experienced the benefits of telegenetics. Current pandemic made us familiar with telemedicine, laying the foundations for its application to deal with the increasing number of requests in clinical genetics.

Telegenetics: Remote Counseling During the COVID-19 Pandemic.

During the COVID-19 pandemic, in-person provision of cancer genetic counseling and education services was not possible for a prolonged period. This article outlines why such services can continue remotely, despite the disruption of a pandemic, as well as describes the strengths and limitations of remote counseling to individuals and families about their hereditary risk for developing cancer. Considerations for the provision of remote counseling and some of the challenges of telehealth, with potential solutions, are described.

Telehealth for High-Risk Pregnancies in the Setting of the COVID-19 Pandemic.

As New York City became an international epicenter of the novel coronavirus disease 2019 (COVID-19) pandemic, telehealth was rapidly integrated into prenatal care at Columbia University Irving Medical Center, an academic hospital system in Manhattan. Goals of implementation were to consolidate in-person prenatal screening, surveillance, and examinations into fewer in-person visits while maintaining patient access to ongoing antenatal care and subspecialty consultations via telehealth virtual visits. The rationale for this change was to minimize patient travel and thus risk for COVID-19 exposure. Because a large portion of obstetric patients had underlying medical or fetal conditions placing them at increased risk for adverse outcomes, prenatal care telehealth regimens were tailored for increased surveillance and/or counseling. Based on the incorporation of telehealth into prenatal care for high-risk patients, specific recommendations are made for the following conditions, clinical scenarios, and services: (1) hypertensive disorders of pregnancy including preeclampsia, gestational hypertension, and chronic hypertension; (2) pregestational and gestational diabetes mellitus; (3) maternal cardiovascular disease; (4) maternal neurologic conditions; (5) history of preterm birth and poor obstetrical history including prior stillbirth; (6) fetal conditions such as intrauterine growth restriction, congenital anomalies, and multiple gestations including monochorionic placentation; (7) genetic counseling; (8) mental health services; (9) obstetric anesthesia consultations; and (10) postpartum care. While telehealth virtual visits do not fully replace in-person encounters during prenatal care, they do offer a means of reducing potential patient and provider exposure to COVID-19 while providing consolidated in-person testing and services. KEY POINTS: · Telehealth for prenatal care is feasible.. · Telehealth may reduce coronavirus exposure during prenatal care.. · Telehealth should be tailored for high risk prenatal patients..