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Table of Contents
Year : 2021  |  Volume : 18  |  Issue : 2  |  Page : 122-126

Telegenomics: Relevance in India

Apollo Telemedicine Networking Foundation, Chennai, Tamil Nadu, India

Date of Submission26-Mar-2021
Date of Acceptance12-Apr-2021
Date of Web Publication13-May-2021

Correspondence Address:
Krishnan Ganapathy
Apollo Telemedicine Networking Foundation, C/O, Apollo Main Hospital, No. 21, Greams Lane, Off Greams Road, Chennai - 600 006, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/am.am_26_21

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Telegenomics, the application of telemedicine for genetic counseling (GC), has considerable growth potential in the India of today. Increasing awareness of preventive medicine, gradual acceptance of telehealth, and widespread availability of reliable good connectivity make remote GC eminently doable. This India-centric review summarises the necessity and importance of telegenetic counseling. In addition to the review of relevant appropriate current literature in this ultra-niche area, the author brings a holistic view, based on his 22 years of personal experience in the field of Telehealth in India. The communication highlights that whatever can be accomplished in a direct face-to-face consultation can be achieved in a virtual session. Following an overview of medical genetics in India and a global survey of GC, the components of and clinical indications for GC are highlighted. Advantages of telegenomics and training facilities in GC are discussed. The necessity to be future-ready in a changing world of “new normal” contactless medicine is stressed.

Keywords: Genetic counseling and telemedicine, telegenomics, telegenomics in India

How to cite this article:
Ganapathy K. Telegenomics: Relevance in India. Apollo Med 2021;18:122-6

How to cite this URL:
Ganapathy K. Telegenomics: Relevance in India. Apollo Med [serial online] 2021 [cited 2022 Jul 5];18:122-6. Available from: https://www.apollomedicine.org/text.asp?2021/18/2/122/315960

  Introduction Top

Several publications[1],[2],[3],[4],[5] from India have confirmed that virtual remote health care is slowly but surely being accepted in the community. The first 15 years after telemedicine was introduced, was primarily spent in creating awareness and inducing behavioral modification. The subsequent commencement of mega Telehealth projects in a Public-Private Partnership mode gave the much-needed impetus.[6],[7] COVID-19 pandemic turned the world upside down. Exponential growth in lockdown enforced remote consultations has radically transformed the acceptance of telehealth.[8],[9],[10] Notification of the Telemedicine Practice Guidelines also helped.[11] It is a matter of immense satisfaction that super specialties in India have started using Telemedicine.[12],[13],[14],[15],[16] Medical genetics is a rapidly emerging discipline with more “genetic” illnesses now being identified. A genetic disorder is a disease caused by change or mutation, in an individual's DNA sequence. 7000 genetic disorders occur with a prevalence ranging from one in 1000 to one in three million. Clinical geneticists in India are very few in number. Counseling the patient and the family is a major component in the practice of medical genetics. Extending the reach of these urban specialists to suburban India, virtually is an urgent requirement. Over 150 genetically based disorders have treatment improving Quality of Life. According to Market Research Future, the global genetic testing market will reach a compounded annual growth rate of 11.50%, worth over $22.8 billion between 2019 and 2024.[17] The genetic testing market in India is growing at 15% annually to reach Rs. 400–Rs. 500 crore. A basic genetic test in India costs between Rs. 3000 to Rs. 70,000.

Of the 26 million annual births in India, a million possibly have undetected genetic diseases. China does 10–12 million genetic tests and the US 100–150 million annually. Unlike other laboratory services, interpretation of results and extrapolation to future preventive care, in the family or ascertaining better response to chemotherapy or other therapeutic options requires considerable domain expertise. Telemedicine can extend the reach of these very limited specialists making distance meaningless. Telegenetics services (Direct to Consumer)[18] have been implemented predominantly in the United States, UK and in Europe, only in the last 5 years.

There are 4000 genetic counselors and 2,500 geneticists in the US.[19] In India, there are only about 75 qualified medical geneticists. Although the use of genomic analysis in clinical management is limited, for 1.3 billion the absolute numbers are large. Referrals to genetic services are suggested if a patient is at risk of, or affected by, a genetic disorder or if molecular genetics of the pathology influences management. Next-generation sequencing (NGS) techniques are becoming increasingly available. NGS has the potential for diagnosing more syndromic/heritable diseases requiring genetic counseling (GC). Demand for GC in India will rise due to an increase in dedicated oncology, neonatal facilities, and genetic testing laboratories Clinicians have to be knowledgeable about genetic tests, knowing which ones to order, who would benefit, and how to interpret results.[20]

  Medical Genetics in India Top

Medical Genetics residency DM program was first established 27 years ago at SGPGI Lucknow.[21] The growth of molecular genetics and cytogenetics in diagnosis and management has led to the expansion of diagnostic and counseling services. As trained genetic counselors are not freely available, medical geneticists also provide GC services. Almost all known reported genetic disorders are found in India. Beta thalassemia is the most common with a carrier frequency of 5%–17%. Common genetic disorders such as Hemophilia, Achondroplasia, Lysosomal storage disorders have been reported in large numbers, along with all inborn errors of metabolism and “Dysmorphology” syndromes. Counseling for Haemoglobinopathies during Neonatal Screening Programme undertaken for sickle cell disease in Kalahandi district of Orissa and Community Screening Programmes in primitive tribes of India in Orissa, Gujarat, Tamil Nadu, and Maharashtra have been reported.[22]

  What is Genetic Counselling? Top

Communicating the nature and implications of disorders with a predominantly genetic basis, to the “at risk” family is the basis of GC. The complexity of information to be given to a family necessitates a trained genetic counselor. GC is more than just communicating complex medical information to families. Genomics involves studying a person's genes, the interaction of the genes with each other and with the environment, to determine how they could impact and fight various clinical conditions.[23] What good is genetic testing if the patient (and often family physician and specialist) does not understand what the results mean or how this knowledge is to be applied ?

  Genetic Counselling: A Global Overview Top

In early 2018, there were only about 7,000 genetic counsellors in over 28 countries. Predominantly in the US, Canada, UK, and Australia.[24] Specific protocols for direct and remote GC have been developed in various centers, specifically in the Netherlands/UK and USA. The Huntington Protocol is also widely used.[25] The Penn Telegenetics Program[26] has a relatively simple algorithm. Partnering sites and physicians in the community offer a secure VC connection to a Penn genetic counselor in a private setting for a pretest session. Assessment for inherited risk factors, discussion of genetic testing options and outcomes, education on early detection and risk-reduction options, and psychosocial concerns are addressed. Patient's personal and family history of cancer is reviewed and options for genetic testing and cancer risk reduction are discussed. The Penn GC works with the patient and the remote site-designated coordinator-typically a local physician or nurse-to facilitate the patient's desired course of action, such as ordering appropriate genetic tests. Sample of blood or saliva is collected and sent to a genetic testing lab. Test results are then sent to a Penn Genetic Counsellor, who consults with members of the Penn Telegenetics Program and participating local team, to develop the next steps for the patient. A one-on-one teleconsult is then scheduled with the telegenetic counselor. Test results and implications for family and clinical care is discussed. In India, at present, neither GC nor genetic testing is covered by insurance or government funds. In the United States, there is a National Telegenetics Workgroup[27],[28] to facilitate cooperation and exchange between various regional telegenetics initiatives.

  Tele Genetic Counselling–Contents Top

A Telegenomics program should connect patients who need or have had genetic testing, with experts (genetic counselors) who can help them understand the results. This will be done virtually through a telehealth platform. Genetic Counsellors will be able to answer all questions regarding risks for transmission of specific conditions, etc., on a case-by-case basis by reviewing the genomic analysis and drawing a hereditary tree with available information. Counselors identify individuals and/or families at risk for a genetic condition, investigate the problem, interpret information about disorders, analyze inheritance patterns and risks of occurrence or recurrence, reviewing available options leading to an informed choice. Counselors can spend more time clarifying doubts if the primary clinician had suggested a different mode of chemotherapy based on genomic analysis. Posttest consultation includes a detailed “clinical action plan,” summarizing findings, implications, and recommendations. Online counseling of presymptomatic patients in their homes, is in contrast to counseling of symptomatic patients advised GC during face-to-face consults. Genetic testing without GC has been linked to negative testing outcomes. These include the absence of informed decision-making around testing, ordering costly and unnecessary genetic tests, misinterpretation of results, inappropriate or inadequate medical management, violations of ethical standards, and adverse psychosocial outcomes. GC has implications not only for the affected individual but for the wider family. What is the diagnosis? Why did it happen? Was it because of something I did or did not do in pregnancy? Will it affect the life span, intelligence, prospects of marriage, and childbearing? Is there a treatment? Will it happen again if I have more children? What can I do to prevent it from happening again? These queries are addressed by GC.

  Components of Genetic Counselling Top

The National Society of Genetic Counsellors (NSGC) officially defines GC as promoting understanding and adaptation of medical, psychological, and familial implications of genetic contributions to disease. To “counsel” means to advice, to recommend, to advocate, to exhort, to suggest, to urge. Counseling assists individuals to take decisions, to effect change, to prevent and manage problems. Patients and relatives at risk of developing a genetically influenced condition need to understand the nature of the disorder, the probability of developing it, and risk of passing it on to future generations. Education and emotional support to individuals and families facing genetic and inherited diseases are critical. Premarital and antenatal GC may be indicated. Genetic Counsellors translate genomic information into adaptable, clinically meaningful, compliant interpretations. Streamlining process of pre- and posttest counseling and delivering test results increase willingness for genetic testing in 65% of those with breast cancer. The Indian GC model needs to evolve and adapt based on local needs and cost constraints. With the burden of breast and/or ovarian cancers rising steadily, preemptive testing will ensure early detection and appropriate management. To communicate effectively, GC must consider the educational background of the beneficiary, what, where, and when to disclose. Obstacles to counseling include emotional conflicts and ignorance of genetics and biology. Counseling should include information about disease and implications if detected as a carrier.

  Clinical Indications for Tele Genetic Counselling Top

These include (1) Male and Female Infertility, bad obstetric history (2) patients with dysmorphology, disorders of sexual differentiation (3) Certain types of Diabetes, Asthma (4) Certain types of Stroke and Psychiatric disorders (5) Certain types of neurodegenerative disorders, skeletal disorders (6) Certain types of musculoskeletal disorders especially muscular dystrophies, connective tissue disorders e.g., Marfan syndrome (7) Certain types of Metabolic disorders (8) Cystic fibrosis, sickle cell anemia, Tay-Sachs disease (9) Familial Disorder, for example., Thalassemia (10) Down's syndrome, Achondroplasia (11) Increased susceptibility to infectious diseases, for example., f tuberculosis, human papillomavirus, HIV (12) Colour blindness, Gaucher Disease, Di George Syndrome (13) Certain types of Deafness, Eye, Skin, Renal, and Hematological disorders. Genetic basis for cardiac disorders has been identified in certain types of arrhythmias, congenital heart disease, cardiomyopathy, hypertension, hypercholesterolemia, Coronary Artery Disease, sudden cardiac death, and heart failure. Neurological disorders with a genetic basis include certain types of seizure disorders, benign and malignant brain tumors (Neurofibromatosis Type II– Bilateral ANF with or without associated glioma/meningioma), spina bifida overta/occulta/meningocele/meningomyelocele, CV anomaly. Ophthalmological disorders with a genetic basis include congenital cataract, retinitis pigmentosa and congenital glaucoma, Dermatological disorders include Albinism, Epidermolysis bullosa, Ichthyosis, Xeroderma pigmentosum. Short stature, skeletal dysplasias, Osteogenesis Imperfecta, Metatarsus Adductus, Clubfoot, Developmental Dysplasia of the Hip, and Congenital Limb Defects are some genetically determined orthopedic disorders.

  Tele Genetic Counselling in Oncology Top

One million new cancer cases are diagnosed annually in India. 10% of breast cancers are hereditary. 1% of the general population could carry a mutation in BRCA1 or BRCA2. BRCA mutations are associated with the increased lifetime risk of breast cancer. A recent study found 30.1% to be mutation carriers. The risk of developing breast/ovarian cancers in BRCA ½ mutation carriers is 65% and 45%, and that of ovarian cancer is 39 and 11%, by the age of 70. GC could play a major role in facilitating early diagnosis. GC could reduce the cancer burden.

  Antenatal Tele Genetic Counselling Top

GC is crucial in prenatal diagnosis. Diagnostic options available, decision to have a prenatal test, implications of finding an adverse result and long-term impact of a genetic disorder need to be discussed. Down's Syndrome, Turner's syndrome, neurofibromatosis type 1, oculo-cutaneous albinism, and many other disorders[29] can be detected. Decisions taken by parents after the tele-counseling session must leave them satisfied not confused. In urban India, congenital malformations and genetic disorders are the third most common cause of mortality in newborns. Specific tests to be discussed during the Telegenomic session would include a standard prenatal screening test (alpha-fetoprotein levels) and amniocentesis to detect the chromosomal defect. Genetic testing would be suggested if either parent or a close relative has an inherited disease or birth defect or if parents already have children with birth defects, intellectual disabilities, or genetic disorders[30] or mother-to-be has had two or more miscarriages or babies that died in infancy or the mother-to-be will be 35 or older or if either parent is concerned about exposures they have had to radiation or medications.

  Telegenetic Counselling for Pharmacogenomics Top

The study of the response of an individual to certain drugs based on their genes is called pharmacogenomics.[31] Pharmacogenomics studies how drugs interact with inherited genes. This field of science and genomics allows the prediction of an individual's response to a drug, allowing the selection of medications. It also has the potential to help develop effective, safe medications and doses tailored to an individual's genetic makeup. In 2019, over 260 drugs discussed pharmacogenetics on their Food and Drug Administration labels, with 20,0000 publications. Genetic differences mean that a drug can be safe for one person but harmful for another. Pharmacogenomics helps understand why individuals respond differently to medicines. Because of genetic makeup, drugs are metabolized differently leading to toxicity or sub-therapeutic levels. Olaparib is used for the treatment of BRCA1/2 mutant cells. GC is required to identify BRCA1/2 mutant cancers earlier and start treatment early for effective control. With the approval of poly (ADP-ribose) polymerase inhibitors for both germline and somatic BRCA1/2 mutations and data indicating the efficacy of platinum-based chemotherapy in gBRCA mutant cases, genetic testing has the potential to affect treatment decisions. Irinotecan (Camptosar) is a type of chemotherapy used in treating colon cancer where the response is genetically determined. The importance of genetic variants of drug metabolizing enzymes to explain inter-individual differences in drug concentrations and corresponding pharmacodynamic effects is now well known. Illustrations of genetic influence on drugs include metabolism of succinylcholine, isoniazid, debrisoquine, or sparteine Drugs used in the management of depression, cardiovascular diseases, thromboembolic disorders, and malignancies response is based on genetic makeup.

  Advantages of Tele Genetic Counseling Top

Online telegenomic services would provide timely and flexible hours. Services of limited trained individuals in metros and state capitals can be made available in Tier II and Tier III cities. Samples (serum, saliva) from anywhere can be sent to genetic labs for testing. The increasing availability of cost-effective laboratory genetic tests in different geographies allows more accurate diagnosis and prenatal and presymptomatic diagnosis in high-risk families. Identifying probands, and informing relatives directly, using phone-based counseling tools, in families with a strong germline predisposition for cancer is doable. In India, the social structure is still quite close-knit. Informing relatives directly nearly doubles the number of relatives tested. Large potential is in line with the shift toward personalized and tailored medicine, focusing on personal needs

  Training for Genetic Counselling Available in India Top

Formal training in GC is available in several countries.[32],[33],[34] A masters course in GC is available at Kasturba Medical College. SGPGI Lucknow offers a 2-week annual program for clinicians. 6-month track course in GC as part of a Master's program in biomedical genetics is available at Vellore Institute of Technology. The NSGC[35] has framed the clinical scope of practice for GC, to include medical roles (history taking, risk assessment, education regarding inheritance, natural history, genetic testing, coordination of testing including cascade testing, psychosocial support (assessing adaptation, providing anticipatory guidance and short-term client-centered counseling) and case management (documentation; provision of resources).

  Conclusions Top

Genetic Counselors work mainly in cancer genetics (48%), cardiogenetics (10%), neurogenetics (8%), infertility genetics (5%), and other specialty areas. GC has been associated with improved adherence to cancer risk management strategies and lower patient distress levels, better informed surgical decision-making, high patient satisfaction, and cost savings. Recent technologies of exome sequencing in combination with SNP microarray can identify causative genes in very small families. Group Tele counseling for similarly afflicted families is in the author's opinion an innovation which can be attempted. Preliminary reports in face-to-face group counseling in individuals with similar health dysfunctions have demonstrated that it is cost-effective, covers a larger number of individuals, and most interesting, is welcomed by the beneficiaries. Opportunity to “exchange notes” with those similarly afflicted leads to better compliance and adherence. Today with current video conferencing techniques this can be done individually or collectively remotely as well. Many of us are afraid of the future. We cling desperately to the present not realizing that we have already become the past. We need to remember that the future is always ahead of schedule. It is just a question of time before telegenomics becomes a reality in India.


Secretarial assistance given by Ms. Lakshmi is acknowledged.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

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Medical Genetics...
What is Genetic ...
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Tele Genetic Cou...
Components of Ge...
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Antenatal Tele G...
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