Keywords

1 Introduction

The genetics counseling and genetic testing have been widely used in Armenia for more than two decades (Cazeneuve et al. 1999). The practice of medical genetics first concerned hereditary disorders common in the Armenian population (Sarkisian et al. 2005, 2007). Later, genetic testing and related genetic counseling were applied also for diseases with high genetic predisposition as well as in precision medicine. Currently, in Armenia with about three million population more than 135,000 people have passed different genetic or genomic testing, and the number is increasing with more than 5000 genetic tests performed annually.

During this time period the content of genetic information and its further transfer to end-users, including patients, physicians firstly and society in general, became another challenge which required the need of active training and increasing awareness in genetics (Bagboudarian n.d.), for the appropriate management of patients and genetic disorders as a whole within the country. Meanwhile, digitization in many areas and services, including healthcare, raised the importance of similar changes in genetic services, particularly during the COVID-19 pandemic and because of its related restrictions on population movement (Sargsyan et al. 2022; Torosyan 2020). On the other hand, scarcity of genetic services and a very low number of clinical geneticists are another prerequisite for the development of a new model of genetic services with assistance by digital technologies, as compared to the classic in-person visits and time-consuming meetings (taking on average more than 35 min per patient).

In addition, several issues also can be described as secondary contributing factors for the digitisation of genetic services. These secondary contributing factors include, but are not limited to, appropriate genetic information perception, interpretation and accurate understanding both by treating physicians and patients; the need for updated national policy and regulations; cost-effectiveness of services and easier financial administration of allocated costs; societal transparency while maintaining individual privacy; ethnic and religious nuances (due to the geopolitical location of Armenia); and protecting the mental health of patients (Bedirian et al. 2022). Taken together these present a set of interweaved strategic challenges supporting the implementation of a comprehensive digitization framework of genetic services.

2 Current Efforts in Armenia

Currently, the digitization of genetic services in Armenia is fragmented and concerns only a few fields of genetic services with different levels of achievements and integration in the health care system. Here we briefly describe three different cases in use of digital genetic services focused on a program for patient clinical and genetic data submission and analysis for physicians, a toolbox for genetic and/or genomic data at the national database, and a newly developing genetic toolbox for patients and physicians.

2.1 Familial Mediterranean Fever

Familial Mediterranean Fever is the most common genetic disorder in Armenia and to date over 50,000 people were tested for this genetic disorder (Sarkisian et al. 2005, 2007; Ben-Chetrit et al. 2015). In this regard a special web-based program, AIDsBuilder is developed on the basis of autoinflammatory disorders patient’s database of the Center of Medical Genetics and Primary Health Care (based in the capital city of Yerevan) which is designed to submit, store and analyze a complex of clinical, genetic, laboratory data of patients with autoinflammatory diseases. All information about the tested patients is entered into the AIDsBuilder central server that includes genetic, clinical and laboratory data of patients. However, it has open access only for registered physicians with special access codes who also have access to the anonymized database of other patients with similar clinics or genotypes for determination of inheritance patterns in several generations, corrections of doses of relevant medicines as well as for templated reporting of genetic testing. This first digital genetic tool was developed for physicians, incorporating end-user feedback, as an emerging digital assistance for understanding genetic testing data of autoinflammatory disorders and for improving patient outcomes.

2.2 Cancer

Cancer is the second cause of death after cardiovascular disorders in Armenia. Armenia is in the global frontline with the mortality rate of different types of cancer according to the Globocan data. Meantime integration of genomic analysis in the personalized treatment of cancer patients has driven new challenges for oncologists to better understand molecular bases of cancer and genomic data provided after testing (Bedirian et al. 2022; Calvez-Kelm et al. 2011; Moradian et al. 2021). In recent years, a national cancer registry has been developed in Armenia which among several other data incorporates genetic and/or genomic testing reports as well. This web-based registry is open for all clinics and laboratories which have access to cancer patients, therefore, the genetic counseling and genetic testing data of each patient is submitted to the portal, a central national hub of all cancer patients independent of their treatment location. Therefore, cancer registry is also serving a comprehensive digital source of delivery of complex medical data of cancer patients which facilitates patient-centered service delivery, improves the healthcare efficacy and eventually, cancer patient outcomes. At the same time, the overload of genomic data in the clinical oncology workflow is another cause to increase the genetic literacy among physicians. In this regard, digitally delivered genetic reports include interpretation of genetic testing results according to current international guidelines as set by the European Society for Medical Oncology (ESMO), the National Comprehensive Cancer Network (NCCN), and the American Society for Clinical Oncology (ASCO).

3 Digitization of Genetic Services

Eventually, a more comprehensive approach of digitization of genetic services was developed by the Center of Medical Genetics and Primary Health Care (Amaryan et al. 2021). The Patient’s Office is a personal portfolio for each patient and can be co-utilised by the patient and his/her physician. The Patient’s office is a unique toolbox which can navigate the patient from scheduling in person or chat-box genetic counseling, uploading of personal and family medical history data, electronic signing of relevant consent form, delivery of genetic testing reports and personalized interpretation in a standardized form of templated genetic counseling report. Pre-assessment of required medical data, results of laboratory and instrumental analyses, photographs for phenotyping purposes are essential and huge assistance for clinical geneticists before submitting the required genetic test in the Patient’s Office for their further consideration. Eventually, after the genetic testing the genetic reports are accompanied with relevant data when available (e.g., .vcf files after gene panel or whole exome sequencing analysis) which could be assessed by the referring physician as well. Thus, the Patient’s Office is a hybrid approach between in person and fully digital genetic services taking into account still the patients need in personal contacts and clear understanding of the need of relevant genetic tests, their results and further management of patients. At the same time, the Patient’s Office is an ideal tool to escape from post-test visits of patients who have negative test results and does not require any further genetic counseling.

4 Conclusions

Armenia is taking the first steps in digitization of genetic services and for their incorporation in the health care system (Amaryan et al. 2021; Davtyan et al. 2019). The adoption of this process will require development of digital technologies at national level or in a private sector with help of artificial intelligence, proof of their clinically evidence-based and economic efficacies. More importantly, for the development of digital genetic services while restricting personal meetings between patients and physicians, there is a clear and must-do prerequisite when one needs to have a patient’s trust-based approach with privacy and data protection and patient-centered solutions in such a peculiar field of genetic health.