key: cord-0724444-yab6hrj5 authors: Rao, Nivedita; Kanago, Dhanashree; Morris, Monisha; Narayan, Vinu; Varshney, Kruti; GN, Sanjeeva; Bhat, Meenakshi title: Telegenetics: The experience of an Indian center (Centre for Human Genetics) during the COVID‐19 pandemic date: 2021-10-01 journal: J Genet Couns DOI: 10.1002/jgc4.1517 sha: 87cc0eb32475012218dd6858de9df43d40f5da33 doc_id: 724444 cord_uid: yab6hrj5 Because of the lockdowns and restrictions placed on non‐emergency medical services due to the COVID‐19 pandemic, we were prompted to set up telegenetic services for patients and families with genetic disorders. Genetic medicine poses special challenges because the unit of consultation and counseling is often the family and not just the individual. We describe here our experience over eight months in 2020 in evaluating 539 families with genetic disorders on a virtual platform. Patients from urban and rural districts of Karnataka and neighboring states received telegenetic consultation. Families were phoned by genetic counselors 14–28 days after the initial consultation to measure feedback. One member of each family was invited to complete a modified 9‐item Telehealth Satisfaction Scale (TeSS scale). Of 293 respondents, approximately 87.3% reported satisfaction with the visual and audio quality of online contact and 86.7% on saving travel time and expenses. A shorter waiting time for appointments as compared to in‐person appointments in the previous year was seen in approximately 90%. Nearly 87% reported satisfaction with online genetic consultation; however, 74% of these indicated a preference for a face‐to‐face appointment. The reasons for this included a cultural perception of confidence instilled by meeting medical specialists in person. Telegenetics presents unusual advantages in India because of the high usage of smartphones, unlimited Internet data as a feature of most Internet plans, free web‐based video applications, and digital payments. We suggest that telegenetics may be an alternative in providing a hybrid model of care in non‐emergency situations especially where resources are limited. Telemedicine uses technology and telecommunications to provide health care and education over a distance (Smith, 2007) . In India, it was made possible by the launch of the Indian National Satellite Project on Telemedicine- ISRO, 2000) . Telegenetics, a specialized branch of telemedicine, has been described as 'comprehensive genetics services to reach children and families when travel, distance, and shortage of genetics professionals interfere with access by utilizing interactive video and a secure high-speed connection, genetic counselors can "virtually meet" with a patient at a regional clinic or hospital in real-time' (National Society of Genetic Counselors, USA, 2019) (How to Incorporate Genetic Counseling, 2020). There are approximately 7,000 known rare disorders, and nearly 80% of them have an underlying genetic basis (Rare Diseases, 2019) . It is estimated that there are about 70 million individuals affected by rare diseases in India (Rare Diseases India, 2021) . There is an acute shortage of genetic specialists in India, with fewer than 100 trained clinical geneticists and a handful of qualified genetic counselors (Taneja et al., 2020) . India has a population of 1.3 billion people (India population 2020-StatisticsTimes.com, 2020), and 68.4% of whom are in rural areas (Chellaiyan et al., 2019) . Remote access to specialist health care in India is available to very small numbers (Bagchi, 2006) . During the initial two months of the national shutdown and periodic short, state-wide closures to contain the spread of COVID-19, only emergency medical services were able to operate in a majority of clinics and hospitals. Many genetic clinics and hospitals were forced to cancel appointments of all non-emergency cases. It is often perceived that there are no emergencies in medical genetics. However, examples to illustrate the contrary include a pregnancy where a definitive intervention and genetic test may confirm the fetus to be affected or not, a newborn with an inborn metabolic disorder (IMD) requiring early neonatal diagnosis and intervention to prevent neurological handicap and death, and a child born with ambiguous genitalia requiring a genetic test for gender assignment at the earliest. In these examples, genetic testing and prompt intervention are required. Therefore, genetic services need to be ongoing despite the current pandemic and telegenetics is a means of consultation to assist families in need of genetic interventions. In 2012, a review of telegenetics services in the UK and other European countries noted that the majority of the consultations were between an expert and a patient located in a distant clinic (Hilgart et al., 2012) . These consultations included a range of cases including pediatric, prenatal, and hereditary cancers. The experiences were measured by a quantitative pre-and post-counseling questionnaire, including true/false questions, Likert scale questions, and open-ended questions for free-text responses, which were largely positive. The shortcomings mentioned included difficulty in establishing rapport and some difficulties with the use of the technology involved in telemedicine. Many of the studies reviewed were comprised of small numbers which makes it difficult to draw conclusive opinions. In another review of reviews from multiple centers, it was reported that telegenetics added to the efficiency in providing medical services (Ekeland et al., 2010) . Qualitative assessments in this study reported 21 reviews highlighting conclusive success and 18 reporting promising but incomplete evidence of telemedicine effectiveness. The utility of videoconferencing in obtaining detailed family and medical history and in accurately diagnosing pediatric genetic and dysmorphic disorders are highlighted by Stalker et al., 2006 . The advantages noted were shorter waiting times for appointments and the maintenance of the child's privacy. However, as this study involved pediatric dysmorphology, the consultations followed a hybrid model with an online consultation followed by a face-to-face appointment. Even prenatal genetic counseling has successfully been done through telegenetics (Abrams & Geier, 2006) . Recent reports from Australia and the USA note that telegenetics has the potential to evaluate individuals remotely, which reduces travel and other costs with an increase in patient satisfaction levels (Hilgart et al., 2012; Hopper et al., 2011; Stalker et al., 2006) . From India, the single previous reference to telegenetic consultation was an abstract outlining the positive experiences from counseling BRCA1-related breast cancer families by telephone and by video consultation (Dawood et al., 2019) . We describe our experience over eight months ( May 2 to December 31, 2020) at the Centre for Human Genetics. This center, located in Bengaluru (population of 12.6 million) (India Population (2020)-Population Stat, 2020), is served by three clinical geneticists Telegenetics has been used in developed countries for genetic counseling connecting counselors from a center of expertise to peripheral health centers mostly through videoconferencing. This is the first detailed report from India where telegenetics has been used to connect centers of expertise to families in their homes. The unique local advantages, methodology, and challenges have been described. and three genetic counselors. In the 539 families seen for telegenic consultation, one or more members were affected (n = 333) or at risk (n = 206) with one or more genetic disorders. Most probands were referred by physicians; however, a few (n = 5) were self-referred. In the majority, the proband and closely related family members were present during the consultation, which is culturally the norm in Indian society. Around 80% were from the state of Karnataka (67 million population) (Karnataka Population 2011, 2020) and 20% from other states. The Medical Council of India (MCI) formulated telemedicine practice guidelines in early 2020 (MoHFW, 2020). Based on these guidelines, we began telegenetics services using the ZOOM application. A pictorial instruction manual in English was created and translated into other languages depending on the patients' needs ( Figure 1 ). Two sessions of contact with the referred family were usually made. At first, all families were contacted via telephone by a genetic counselor for an introduction, obtaining a family history and clinical details (clinical, operative, or other medical records). Instructions to connect by ZOOM were sent by e-mail to the family. The second contact by ZOOM, with the clinical geneticist and the counselor, was scheduled within the next day or two. A single consultation lasted 40-45 min. Where indicated, blood samples for genetic testing (for chromosome studies and molecular diagnostic testing including exome sequencing) were collected from home by phlebotomists from the testing laboratories, which has become the norm in the changed circumstances. The signed informed consent and request form for genetic testing were completed by the counselor and emailed to the laboratory after consultation. Payments were collected for consultation and laboratory tests using online portals, described under discussion. A post-consultation written summary was shared by e-mail with the family and the referring doctor. In review appointments, genetic results were emailed as a soft copy to the family prior to the appointment and the results were discussed by the clinical geneticist in detail during the consultation. The entire process is denoted in a cartoon in Figure 2 . Around 14-28 days after the online consultation, the consultands were called via telephone for feedback about their telemedicine experience. Based on a 10-item Tess scale (Morgan et al., 2014) , we used 9-item questionnaire to measure patient satisfaction. A Likert scale was used to mark responses (1 = poor, 2 = fair, 3 = good, and 4 = excellent). Higher marking on the scales indicates a larger degree of satisfaction. Scores 3 and 4 were combined to indicate a high measure of satisfaction: Table 1 . Five hundred thirty-nine consecutive families were assessed over an eight-month period from May 2 to December 31, 2020. ( Figure 3 ). Around 10% of these required translators (from English to regional language) who were often relatives or friends picked by the family. The largest number of patients counseled had pregnancy-related issues (206 cases, 38%). Of these, 83 families (15.3% of the total) had an ongoing pregnancy with either a previously affected child with a genetic disorder, an abnormal ultrasound scan with an identified fetal abnormality, or an age-related risk of a genetic disorder in the gravid lady. One hundred twenty- In the families that were provided teleconsultation, an estimate of travel expenses saved was calculated. An average cost of ₹12/km (1$=Rs.73, July 2021) was used (the usual cost of travel by public transport, including Ola, Uber, and other private taxi services) to calculate the round-trip distance required to be traveled for consultation. For a family that would have required an overnight stay, a nominal charge of ₹500/family/day was included in the calculation. As a majority of patients referred to our clinics belonged to the lower socioeconomic strata (class IV and V on Kuppuswamy socioeconomic scale, Saleem & Jan, 2021), the travel and overnight estimates were at the lowest level of expenses likely to be incurred. Based on these calculations, the average cost savings per consultation was about ₹1,000 ($13.69). This, in addition to the travel time and days saved, was significant. Overseas patients (seven) and families from distant states (ten) were not included in this calculation. Out of 539 families, individuals from 293 (54.3%) families consented to answer questions regarding their satisfaction with telegenetics. In F I G U R E 3 Distribution of 539 cases evaluated from May 2 to December 31, 2020 India, medical appointments for children are invariably attended by both the parents. Of those who agreed to participate in the survey, it was the male head of the family in the majority (father or husband, 61%), and in the remaining, it was the mother of the proband who answered the questions. This was based on who was available at Forty-seven individuals (nearly 16%) reported some difficulty in connecting to the ZOOM teleportal as they were using an online application for the first time. Around 19% had an interruption of a session lasting a few minutes due to a power outage at the family end. The majority were able to reconnect successfully. Most of these had successful consultations. Two individuals were reluctant to connect from home as they were concerned about the lack of privacy in a joint family. Consultation for a few families (<10) with a poor appreciation of technology was over WhatsApp video call. Around 10 families had to travel a short distance from home for better network coverage including one family who had their consultation in their car parked in the nearby town center. Five hundred thirty-nine families with genetic disorders had telegenetics consultation over an eight-month period in their own homes. Each family that was counselled was counted as a single (539 had at least one consultation, and 180 (33%) had one or more review appointments (Verma, 2020) . This enabled seamless documentation and sharing of receipts between the clinic and the testing laboratories, both often located within the same institution. To mitigate the difficulties faced by patients and families with genetic disorders to obtain in-person consultation during the ongoing COVID pandemic, we took advantage of the wide availability of Internet and telecommunication services in India to conduct online video clinics for 539 patient families with known or at risk of genetic disorders. The services provided included diagnosis based on clinical features, testing followed by genetic counseling, advice on management, and treatment. Both new and follow-up cases received a consultation with repeat appointments finding it easier to connect. While there were obvious advantages to the patient in obtaining telegenetic services, attention is also drawn to a few challenges that we encountered. We believe that telegenetics can be a viable alternative to in-person consultation even in the absence of an epidemic situation. The authors Nivedita Rao and Meenakshi Bhat confirm that they 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. All of the authors gave final approval of this version to be published and agree to be accountable for the all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. N. Rao, D. Kanago, M. Morris, V. Narayan, K. Varshney, GN Sanjeeva, and M. Bhat made substantial contributions to the conception of the work, the acquisition, analysis, and interpretation of the data, assisted in drafting the initial manuscript and revisions, gave final approval of the version to be published, and agrees to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. We thank Professor H Sharat Chandra for critical review and useful suggestions on the manuscript and Sri N A Prakash for editorial assistance. Meenakshi Bhat was supported by a grant from Kiran Mazumdar-Shaw Philanthropy. Melanie Myers served as Action Editor for this manuscript. This study was approved by and conducted to the ethical standards of the institutional ethics committee, Centre for Human Genetics, Bangalore. IRB number: CHG/077/2020-21/004. All applicable international, national and/or institutional guidelines were followed. This study was approved by the expedited review and was granted an informed consent waiver. No non-human animal studies were carried out by the authors of this article. The data that support the findings of this study are available on request. Meenakshi Bhat https://orcid.org/0000-0002-3867-8250 ZOOM now has 300 million users despite security flaws. 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